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Editorial: CASE REPORTs

José Ricardo Navarro-Vargas Universidad Nacional de Colombia Bogotá Campus Faculty of Medicine Department of Surgery Bogotá, D.C. – Colombia

Corresponding author José Ricardo Navarro-Vargas Departamento de Cirugía Facultad de Medicina Universidad Nacional de Colombia Bogotá. Colombia. Email: [email protected]

https://doi.org/10.15446/cr.v3n2.69219 Case reports Vol. 3 No. 2: 57-9

58 Observing and recording that which may be amazement, since a control group represents relevant and disseminating it through a con- the expected course of the disease regarding crete and well-written text are the teachings the occurrence of a new phenomenon. All of Charles Darwin (1809-1882) and William this makes it necessary to review the literatu- Osler (1849-1919). Darwin published one of re and make new associations, new interpre- the greatest scientific books of all time, On the tations, generate new knowledge. Origin of Species (1859), which was the re- For example, the case of Mary Mallon (bet- sult of multiple observations written down by ter known as Typhoid Mary) was groundbrea- the author on a daily basis. For his part, Osler king, since she was the first patient diagno- was an outstanding doctor, a great semiolo- sed as a healthy carrier of Salmonella Typhi in gist, the father of modern medicine, and did North America. However, thanks to the report not waste a moment to write down his scien- of 53 infected patients and 3 deaths who tific concerns and make them public. had contact with her through her services as Evidence-based medicine displaced case a cook, the necessary associations could be series and case reports in the medical literatu- established from a public health perspective re. However, according to Vandenbroucke, “all and she was left in quarantine (at that time, it kinds of research have a place in science, as was the best treatment to prevent the trans- well as their own space”, in other words, they mission of contagious diseases). must be understood as complementary to me- In order to prepare a good case report, it is dical research. Reporting particular or rare di- necessary to ask the following questions: why seases is one of the objectives of case reports, exactly is this observation important? What but it is not the only one, since many of them teaching does it bring? Do you object to any have served as the basis for the development previous evidence? Is it against some scienti- of major controlled clinical trials that have led to fic concept or current evidence? Is there any discover and describe new diseases, pharma- unexpected association? Was it a provoked cological side effects (beneficial or deleterious), observation that led to study a mechanism? the mechanisms of diseases, to provide educa- Can this mechanism be generalized? Is it a tion and promote medical audit, and to recogni- rare entity that, if reported, brings a great bene- ze rare manifestations of certain diseases. fit to the scientific community and to patients? Some researchers consider case reports Once these questions have been answered, it as the first line of evidence-based medicine is recommended to follow the IMRaD format research. For example, finding a strange coa- (Introduction - Methods - Results –and - Dis- gulation property in a person coming from a cussion), although it is not always the most family that has had multiple venous thrombo- appropriate method to report a case or series sis events led to discover activated protein C of cases. resistance, which is the most frequent cause This issue presents case reports as broad of the congenital anomaly that leads to deep as medicine itself: spontaneous pneumome- vein thrombosis: Factor V Leiden. diastinum, Ekbom’s syndrome, appendiceal Case reports foster new ideas, new pro- cystic dilation, pulmonary paracoccidioidomy- posals and new theories; they allow to indu- cosis and septic shock in an immunocompe- ce, infer, and even develop new projects from tent patient, congenital laryngeal saccular cyst, editorial

splenic rupture associated with thrombocyto- As you can see, case reports will continue 59 penic purpura due to mononucleosis infection, to give us a lot to talk and teach about, I would dissection of ascending aorta in a patient with say, forever, since they are the starting point Marfan syndrome, and vesicular agenesis and for macro studies done with the best available choledocholithiasis. clinical evidence. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.62212 Pulmonary paracoccidioidomycosis associated with septic shock in an immunocompetent patient. Case report

Keywords: Paracoccidioidomycosis, Fungus, Paracoccidioides, amphotericin B, Sepsis, Klebsiella pneumoniae. Palabras clave: Paracoccidioidomicosis; Hongo; Paracoccidioides; Anfotericina B; Sepsis; Klebsiella pneumoniae.

Freddy Mauricio Quintero-Álvarez Juan Pablo Báez-Duarte Jessica Paola Montes-Ortíz Sergio Andrés Mendinueta-Giacometto Emergency Service Hospital Universitario de Santander Bucaramanga – Colombia.

José Mauricio García-Habeych Department of Internal Medicine Faculty of Health Universidad Industrial de Santander Bucaramanga – Colombia.

Corresponding author: Freddy Mauricio Quintero-Álvarez. Email: [email protected]

Received: 26/1/2017 Accepted: 25/7/2017 pulmonary paracoccidioidomycosis associated with septic shock

ABSTRACT described in 1908 by Adolfo Lutz. This is a 61 chronic granulomatous disease caused by Introduction. Paracoccidioidomycosis (PCM) the dimorphic fungus known as Paracoc- is a chronic granulomatous disease caused by cidioides brasiliensis. It is endemic in Latin the dimorphic fungus known as Paracoccidioi- America, with predominance in Brazil —with des brasiliensis. This entity compromises main- the highest incidence in the southeast of the ly the lungs, but can spread to other organs, country— followed by Venezuela, Colombia, with particular trophism, through oral mucosa, Ecuador and Argentina. (1). The dimorphic adrenal glands, lymph nodes, among others. fungus grows as a yeast in the tissues of the host and in cultures at 36-37ºC, but it devel- Case presentation. This paper reports ops as a slow growing mold at temperatures the case of a male patient with pulmonary <28ºC (2). PCM treated at the Hospital Universitario de This disease compromises mainly the lungs, Santander. The patient was admitted with ini- but can spread to other organs, with particular tial suspicion of active pulmonary tuberculo- trophism, through oral mucosa, adrenal glands, sis due to the presence of multiple cavitations reticuloendothelial system, skin and bones. (3) and nodules of random distribution in the lung This paper reports a case of pulmonary PCM in parenchyma observed in the chest tomogra- an immunocompetent patient —a rare disease phy, and subsequent isolation of yeasts com- in Colombia— who was diagnosed in a tertiary patible with Paracoccidioides. Amphotericin care hospital in Santander, Colombia, and had B deoxycholate was administered without fa- a fatal outcome. vorable outcomes and development of septic shock by extended spectrum Klebsiella pneu- Case presentation moniae. In spite of multi-conjugate antibiotic management, the patient presented multiple 67-year-old mestizo male from the rural area organ failure syndrome with fatal outcome at of the municipality of Aratoca (where tem- 21 days of hospitalization. peratures vary between 16ºC and 26ºC), who worked as a farmer (mostly in coffee Conclusion. Pulmonary PCM is an endemic crops), with unclear pathological history of disease that leads to an inadequate immune epilepsy without treatment, chronic smoking response of the host that —along with risk associated with regular consumption of alco- factors such as smoking, alcohol abuse, mal- holic drinks, and without exposure to individ- nutrition and low socioeconomic status— fa- uals with a history of tuberculosis. cilitates the onset of life-threatening infec- The patient visited a primary health cen- tions or coexisting diseases. Timely diagnosis ter referring symptoms of 4 months evolution based on early clinical suspicion potentially including productive cough with mucopuru- influences the patient’s survival. lent expectoration, progressive dyspnea even when putting small efforts, fever, chills and un- Introduction intentional progressive weight loss. He stated that the symptoms exacerbated 7 days before Paracoccidioidomycosis (PCM), also known with hemoptoic cough and evening diaphore- as South American blastomycosis, was first sis. The patient was referred to a secondary Case reports Vol. 3 No. 2: 60-9

62 care health center where a chest x-ray was intracytoplasmic vacuoles with multiple or performed, showing abundant alveolar opaci- chain budding. The results were compatible ties in both pulmonary fields, formation of dif- with paracoccidioides, so he was assessed fuse pneumatoceles, and signs of air trapping by the internal medicine service and referred (Figure 1). A sputum KOH test was performed, to the Hospital Universitario de Santander due reporting a double refractory wall of yeast with to the high risk of ventilatory failure.

Figure 1. Chest x-ray with abundant alveolar opacities in both lung fields with formation of pneumatoceles. Source: Own elaboration based on the data obtained in the study.

On physical examination at admission, the ation ELISA technique. Three serial sputum patient presented with respiratory distress at smears were performed, which reported neg- rest despite supplementary oxygen with a mask ative results for acid-alcohol resistant bacillus and Ventury mask with a 50% inspired frac- (BAAR). In addition, a polymerase chain reaction, significant reduction in muscle mass, vital tion (GenXpert) was performed for each bacil- signs with normal blood pressure, a heart rate loscopy sample, yielding negative results for of 106 bpm and respiratory rate of 23 breaths BAAR as well. A sputum KOH test was per- per minute. He did not have a feverish state at formed again, which confirmed the presence the time of assessment, but there were inter- of blastoconidia related to P. brasiliensis. costal retractions with diminished respiratory Similarly, leukocytosis, progressive throm- sounds on auscultation and rhonchi with dif- bocytopenia and deterioration of renal function fuse rales. were documented (Table 1). Blood gas tests High-resolution computed tomography were made, showing hypoxemia with hyper- (HRCT) of the chest was performed (Figure 2), capnia associated with mixed acid-base disor- which showed multiple cavitations, mostly thin- ders due to normochloremic metabolic acido- walled, and randomly distributed nodules with a sis, metabolic alkalosis and respiratory alkalosis predominantly right pleural effusion. (Table 2). The initial tests ruled out infection by human During hospital stay, the patient was as- immunodeficiency virus through fourth-gener- sessed by pneumology, indicating treatment pulmonary paracoccidioidomycosis associated with septic shock

with amphotericin B deoxycholate at a dose addition, control laboratories reported sig- 63 of 0.7-0.8 mg/kg/day. On day 12 of hospi- nificant leukocytosis and thrombocytopenia talization, the patient presented increased without bleeding (Table 1). Bronchial se- respiratory function and worsening of hypox- cretion and blood cultures reported growth emia (Table 2), invasive mechanical ventilato- of Klebsiella pneumoniae with antimicrobi- ry support requirement, hypotension refrac- al resistance pattern of extended-spectrum tory to fluid management, and vasopressor beta-lactamase (ESBL), for which antibiotic support with norepinephrine was initiated. In treatment with Meropenem was prescribed.

Figure 2. High-resolution computed tomography of the chest. Source: Own elaboration based on the data obtained in the study.

Table 1. Laboratory tests. WBC Platelets BUN Creatinine Day (5-10) x 10^3/uL (150-450) x 10^3/uL (8-23) mg/dL (0.67-1.17) mg/dL 1 17.5 480 10 0.34 2 10.6 338 23 1.24 3 10.5 320 29 1.24 4 10.4 307 30 1.03 5 5.8 283 30 0.89 6 11.3 234 30 0.89 7 15.4 215 27 0.85 8 22.2 205 23 0.93 9 19.7 186 23 0.93 10 49.7 68 13 0.92 11 67 28 17 1.55 12 31.4 10 20 2.25 13 23.8 10 19 2.22 Continúa en la siguiente página. Case reports Vol. 3 No. 2: 60-9

64 WBC Platelets BUN Creatinine Day (5-10) x 10^3/uL (150-450) x 10^3/uL (8-23) mg/dL (0.67-1.17) mg/dL 14 14.4 16 21 2.06 15 22.9 44 22 1.76 16 15.6 47 24 1.7 17 16 90 31 1.44 18 12.5 99 30 1.22 Source: Own elaboration based on data obtained in the study.

Table 2. Arterial blood gases. PO2 PCO2 HCO3 Lactate pH PaFi SO2 (75-100) (38-42) FiO2 (22-28) (0.5-2) Day (7.35-7.45) (>300) (94-100) % mmHg mmHg mEq/L mmol/L 8 7.40 78 32.1 50% 156 96 19.5 1.8 9 7.40 99 32.7 50% 198 98 20.0 Not taken 10 7.25 83 38.1 70% 118 94 16.4 5.6 11 7.22 107 42.0 80% 134 97 17.1 2.9 12 7.23 100 40.2 70% 143 97 16.7 3.6 13 7.27 94 40.1 70% 134 97 18.0 2.7 14 7.27 79 47.5 90% 87 95 21.7 2.2 15 7.26 148 47.2 100% 148 99 21.1 2.4 16 7.23 119 55.0 70% 170 98 22.9 2.2 17 7.20 103 62.4 70% 147 97 24.1 2.6 Source: Own elaboration based on data obtained in the study.

The subject was taken to a medical-sci- tissue hypoperfusion and triggered by septic entific autopsy, in which histopathological shock. studies were carried out, including cuts of the lung parenchyma (Figure 3), showing Discussion the presence of granulomas with abundant multinucleated Langhans giant cells and re- This paper reported a case of PCM in a fractory rounded structures in the cytoplasm. patient with undefined structural lung dis- Some of the latter had multiple budding and ease, with subsequent complication due to were compatible with P. brasiliensis through septic shock associated with K. pneumo- periodic acid-Schiff (PAS) staining and niae. This disease is found in Latin Amer- methenamine silver stain (GMS). This find- ica, with 80% of the cases reported in ing was also observed in lymphatic and he- Brazil, followed by Colombia, particularly matopoietic system cuts, while no foci of Santander and Norte de Santander, which pneumonia caused by K. pneumoniae were are considered endemic areas. The national identified. The renal parenchyma showed incidence ranges from 0.1 to 2.4 per million diffuse and generalized necrosis of the epi- inhabitants and mortality is approximately thelium of the proximal tubules, secondary to 10-15% (4-7). pulmonary paracoccidioidomycosis associated with septic shock

Figure 3. Lung histopathology. A and B: periodic acid-Schiff (PAS) staining; C and D: coloration with methenamine silver stain (GMS) corresponding to P. brasiliensis.

P. brasiliensis is a dimorphic fungus (2) parenchymal injury and tendency to fibrosis that affects mostly individuals who are en- (2). Given this possible coexistence, tuber- gaged in agricultural activities because of culosis was one of the first pathologies to be the manipulation of soils that generate aero- discarded in this patient, besides an immuno- sols with spores of this fungus, which end deficiency state as a trigger of the infection. up being inhaled by the farmers. In addition, Moreover, the association with other pul- a greater incidence is observed in the male monary structural processes, such as chronic gender, with a male-to-female ratio of 2:1 (3). obstructive pulmonary disease and lung can- This difference may be caused by the fact cer, has been described (11). In this case, that men are more dedicated to agricultural the association of PCM, in the absence of activities and the protective effect of estro- tuberculosis, and the bacteremia by K. pneu- gen in women, thus avoiding the transition of moniae was striking. Although the concurrent the fungus from mycelium to yeast (2). The process of tuberculosis and pulmonary PCM transmission from person to person of this (11) and pulmonary tuberculosis and bacte- mycosis has not been documented, and to- rial pneumonia have been documented (12), bacco and alcohol consumption has been the association of pulmonary PCM and K. associated with the risk of PCM infection (8). pneumoniae infections is not frequent. In a PCM is a chronic systemic invasive my- series of reference cases, only one presented cosis that, like tuberculosis, mainly affects the concomitant process (13). Although this the lungs; both diseases can coexist in 15- patient did not comply with the description 20% of cases (9,10) with varying degrees of of the CD40L phenotype and HIV infection Case reports Vol. 3 No. 2: 60-9

66 was ruled out, the presence of structural lung and molecular evaluation methods (19). The disease should be highlighted, as well as his reference diagnostics are: malnutrition status, smoking and active alcohol consumption, hospital stay —which favors • Pulmonary tuberculosis nosocomial infections—, and his exposure to • Histoplasmosis drugs with potent adverse effects such as • Systemic lupus erythematosus amphotericin B —which favors a possible • Hodgkin lymphoma poor immune response. • Cutaneous and mucosal Leishmaniasis The presence of non-modifiable risk fac- • Wegener’s granulomatosis tors such as age and sex, together with modi- • Actinomycosis fiable factors such as type of job, smoking and • Blastomycosis consumption of alcoholic drinks, associated with a low socioeconomic level and high de- Microscopic evaluation of sputum or com- gree of malnutrition conditioned a depressed promised tissues allows rapid diagnosis. The immune response and subsequent infection use of routine stains, such as potassium hy- by P. brasiliensis (11). However, mycosis per droxide (KOH), calcofluor for wet mounts se modulates the host’s innate and acquired and Grocott-Gomori staining or periodic ac- immune response, so that overlapping or id-Schiff (PAS) for smear (20), allows to visu- co-existing infections may be facilitated. alize spherical or double-walled yeasts, from Chest scans are the main tool to sus- 30μ to 60μ in diameter, with multiple budding pect this infection. Findings are nonspecific (14). Digested or concentrated sputum can and include diffuse micronodular infiltrates be positive in 60-70% of chronic PCM cases predominantly in the middle zone of the lung, (15). Cultivation of the fungus on Sabouraud cavitations and tumor masses (5,14,15). dextrose agar medium is ideal for isolation, but Chest radiography shows mainly interstitial may take 20 to 90 days (14,15,21). In certain opacities (nodular or reticular), and when cases, microbiological documentation of the caverns are observed, pulmonary tuberculo- presence of PCM is not possible, so, in case sis is the main differential diagnosis. (15,16). of clinical and radiological suspicion, the use In high-resolution chest tomography, untreat- of serological methods is necessary. ed PCM findings are characterized by atten- The detection of antibodies against the uation of the ground-glass lung parenchyma gp43 antigen is carried out by means of an associated with small centrilobular nodules, immunodiffusion reaction, which is positive cavity nodules, large nodules, and scar em- in 90% of the patients prior to the eradica- physema (5,15,16), being the peripheral and tion treatment (19,22,23). In HIV patients, the posterior distributions in the lung pre- results should be interpreted with caution dominant (16). The reversed halo sign is ob- due to cross-reaction with Histoplasma cap- served in about 10% of cases (16). sulatum (24). Another option is to detect the Considering the wide differential diagno- p27 antigen, with a sensitivity and specificity sis (17) and the clinical-radiological dissoci- of almost 100% (5,20), which avoids cross ation (18), a rapid confirmation of the diag- reaction (20). Molecular methods based on nosis is required to initiate treatment. These the polymerase chain reaction technique are tools include microbiological, immunological not commercially feasible yet (20). pulmonary paracoccidioidomycosis associated with septic shock

The treatment of P. brasiliensis differs from tion should be made according to the severity 67 other invasive fungi due to its high sensitivity of the disease (Table 3). to different antifungal medications; the selec-

Table 3. Treatment options for pulmonary paracoccidioidomycosis.

Drug Dose Interaction Adverse effects Trimethoprim/ 480-960 mg every Leukopenia, megaloblastic Phenytoin Sulfamethoxazole 8-12 hours anemia, thrombocytopenia Astemizole, fexofenadine, Ketoconazole 200-400 mg/day Itching, vomiting, nausea, anorexia loratadine Cisapride, quinidine, Nausea, vomiting, increased diazepam, digoxin, serum transaminases, Itraconazole 100-400 mg/ day indinavir, ritonavir, hypokalemia, hypertriglyceridemia sulfonylureas and hyperuricemia. Cisapride, cyclosporine, Headache, nausea, vomiting, Fluconazole 300-400 mg/ day rifampicin, rifabutin, abdominal pain, diarrhea sulfonylureas, theophylline Fever, dyspnea, bronchospasm, Cyclosporine and Amphotericin B 1-3 mg/kg/day redness, tachycardia, acute aminoglycosides kidney injury Source: Own elaboration based on data obtained in the study.

In cases of mild to moderate infection, the Conclusions therapeutic option is itraconazole. The literature reports a 90% cure rate with relapses up Pulmonary paracoccidioidomycosis is an en- to 15%. One treatment option is to combine demic disease in Santander, although it is trimethoprim and sulfamethoxazole (25). In underdiagnosed due to the presence of more case of serious infections, the use of intrave- common pathologies and similar clinical char- nous agents is indicated, being amphotericin B acteristics such as tuberculosis and histoplas- in its conventional or lipid formulation the pre- mosis. For this reason, late diagnosis is frequent ferred choice (14,15,19) —as administered to in most of the affected individuals. Unfortunate- this patient— evaluated at a dose of 1-3 mg/ ly, mycosis modulates the immune, innate and kg/day. Similarly, in order to prevent relapse, acquired response of the host, thus facilitating long-term treatments with sulphonamides or the onset of superimposed or co-existing infec- azoles are indicated (15). tions, whose complications such as sepsis and Although PCM is an endemic entity with secondary multiple organ failure eventually lead high incidence and mortality, few studies have to a fatal outcome. been carried out to define the appropriate The timely diagnosis of PCM is of utmost therapeutic option (15). In addition, both the importance, considering that the ideal diagno- adverse effects and the interaction of medica- sis is achieved through microscopic evaluation tions that may affect its effectiveness must be of the sputum or detection of gp43 antibod- considered (10). ies. Pharmacological treatment, despite being Case reports Vol. 3 No. 2: 60-9

68 aggressive and considering that the disease 7. Torrado E, Castañeda E, de la Hoz F, usually occurs in immunologically compromised Restrepo A. Paracoccidioidomicocic : defi- patients, could have a favorable impact on the nición de las áreas endémicas de Colombia. reduction of complications and mortality in this Biomédica. 2000;20:327-34. type of patients. 8. dos Santos WA, da Silva BM, Passos ED, Zandonade E, Falqueto A. Associação Conflict of interests entre tabagismo e paracoccidioidomicose: um estudo de caso-controle no Estado do None stated by the authors. Espírito Santo, Brasil. Cad Saúde Pública. 2003;19(1):245-53. http://doi.org/d553sd. Funding 9. Mariaca-Flórez CJ, Cardona-Castro N. Paracoccidioidomicosis. MEDICINA UPB. None stated by the authors. 2015;34(2):126-37. 10. Rezusta A, Gil J, Rubio MC, Revillo ML. REFERENCES Micosis Importadas. Madrid: SEMIC; 2006 [cited 2017 Sep 28]. Available from: https:// 1. Morejón KM, Machado AA, Martinez R. goo.gl/gf7cxL. Paracoccidioidomycosis in patients infected 11. Pato AM, Giusiano G, Mangiaterra M. with and not infected with human immunode- Paracoccidioidomicosis asociada a otras pa- ficiency virus: a case-control study. Am J Trop tologías respiratorias en un hospital de Co- Med Hyg. 2009;80(3):359-66. rrientes, Argentina. Rev. Argent. Microbiol. 2. Mantilla-Hernández JC, Angarita-Africa- 2007;39(3):161-5. no AM, Cárdenas-Guevara M. Paracocci- 12. Arora AA, Krishnaswamy UM, Moideen dioidomicosis diseminada con insuficiencia RP, Padmaja MS. Tubercular and bacte- suprarrenal: reporte de un caso de autopsia. rial coinfection: A case series. Lung India. MÉD. UIS. 2008;21(3):97-105. 2015;32(2):172-4. http://doi.org/cdnr. 3. Martínez R. Epidemiology of paracoccidioi- 13. Cabral-Marques O, Schimke LF, Perei- domycosis. Rev Inst Med Trop Sao Paulo. ra PV, Falcai A, de Oliveira JB, Hackett 2015;57(Suppl 19):11-20. http://doi.org/f7vsdz. MJ, et al. Expanding the clinical and genetic 4. Dawaher J, Colella MT, Roselló A, Pérez spectrum of human CD40L deficiency: The C, Olaizola C, Newman W, et al. Paracoc- occurrence of paracoccidioidomycosis and cidioidomicosis: clínica, epidemiología y tra- other unusual infections in brazilian patients. tamiento. kasmera. 2012;40(2):160-71. J Clin Immunol. 2012;32(2):212-20. http:// 5. Bocca AL, Amaral AC, Teixeira MM, Sato doi.org/fx4ghp. PK, Sato PK, Shikanai-Yasuda MA, et al. 14. Fernández R, Arenas R. Paracoccidioi- Paracoccidioidomycosis: eco-epidemiology, domicosis. Actualización. Dermatología Rev taxonomy and clinical and therapeutic is- Mex. 2009;53(1):12-21. sues. Future Microbiol. 2013;8(9):1177-91. 15. Queiroz-telles F, Escuissato DL. Pulmo- http://doi.org/f5g38r. nary Paracoccidioidomycosis. Semin Respir 6. Restrepo A. Paracoccidioidomicosis. Acta Crit Care Med. 2011;32(6):764-74. http:// Médica Colomb. 1978;3(1):33-66. doi.org/cvcnnx. pulmonary paracoccidioidomycosis associated with septic shock

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https://doi.org/10.15446/cr.v3n2.62194 Splenic rupture associated with thrombocytopenic purpura caused by infectious mononucleosis. Case report

Palabras clave: Infección; Virus de Epstein-Barr; Púrpura; Rotura de bazo. Keywords: Infection; Epstein-Barr virus; Purpura; Spleen Rupture.

Alicia Santa Cortés-González Nataly Yazmín Cortés-Trujillo Verónica García-Torres Pediatric Service - General Regional Hospital Pediatric Service - General Hospital of Zone Number 36 - Instituto Mexicano del Seguro Number 11- Instituto Mexicano del Seguro Social. Social - Puebla - México Faculty of Medicine - Universidad Veracruzana Faculty of Medicine - Universidad Popular - Xalapa - México Autónoma de Puebla - Puebla - México

Rocío Maily Vázquez-Martínez Uziel Suarez-Cruz Faculty of Medicine - Universidad Nacional Faculty of Medicine - Universidad Veracruzana Autónoma de México - México D.F. - México - Xalapa - México Instituto de Ciencias de la Salud - Universidad Pediatric Service - General Hospital of Zone Autónoma del Estado de Hidalgo Number 36 - Instituto Mexicano del Seguro - Pachuca - México Social - José Cardel - México

Corresponding author: Alicia Santa Cortés-González. Email: [email protected]

Received: 26/1/2017 Accepted: 25/7/2017 splenic rupture associated with thrombocytopenic purpura

ABSTRACT al virus de Epstein-Barr es benigna y autolimit- 71 ada y no requiere intervenciones terapéuticas Introduction. Splenic rupture associated específicas. El cuadro es bien tolerado y tiene with thrombocytopenic purpura caused by in- una baja frecuencia de complicaciones. fectious mononucleosis is extremely rare. The evolution of patients with infectious mononu- Presentación del caso. Paciente femenino cleosis associated with Epstein-Barr virus is de 12 años de edad con dos días de evo- favorable, self-limiting and does not require lución de dolor abdominal difuso, distensión, specific therapeutic interventions. The symp- náuseas, palidez de tegumentos y fiebre no toms are well tolerated and have a low fre- cuantificada, quien a su ingreso al servicio quency of complications. de urgencias muestra datos de descompen- sación hemodinámica, lesiones purpúricas y Case presentation. Female 12-year-old pa- manchas equimoticas en extremidades. Se tient presenting with diffuse abdominal pain, realizan estudios de laboratorio y gabinete distension, nausea, tegument pallor and un- que confirman anemia, trombocitopenia y quantified fever for two days. Upon admission hematoma esplénico, por lo que se practica to the emergency department, hemodynamic laparotomía exploradora ante la posibilidad decompensation, purpuric lesions and ecchy- de hemoperitoneo. mosis in the limbs were observed. Laboratory and cabinet studies were carried out to con- Resultados. La paciente presenta espleno- firm anemia, thrombocytopenia and splenic megalia, hematoma subcapsular roto con san- hematoma. Finally, an exploratory laparotomy grado de 4000mL y lóbulo accesorio de bazo was performed considering the possibility of con rotura esplénica. hemoperitoneum. Conclusiones. La rotura espontánea del Results. The patient presented with spleno- bazo es una complicación infrecuente pero megaly, broken subcapsular hematoma, bleed- posible en enfermedades infecciosas; sin em- ing of 4000mL and accessory spleen lobe with bargo, su asociación a purpura trombocitope- splenic rupture. nica es extremadamente rara.

Conclusions. Spontaneous splenic rupture is INTRODUCTION a rare but possible complication of infectious diseases. However, its association with throm- Splenic rupture associated with infectious bocytopenic purpura is extremely rare. mononucleosis (IM) occurs in 0.1-0.5% of cases and is a very rare complication. Its as- RESUMEN sociation with thrombocytopenic purpura is extremely rare, since it only occurs in 0.2-0.6% of Introducción. La rotura esplénica asociada the total cases. The causative agent is the Ep- a la presencia de purpura trombocitopénica stein-Barr virus (EBV) with positive heterophile causada por mononucleosis infecciosa es ex- antibodies (1,2). tremadamente rara; la evolución de los paci- The following case is presented consider- entes con mononucleosis infecciosa asociada ing the low incidence of this condition and its Case reports Vol. 3 No. 2: 70-6

72 aggravating influence on a disease that is usu- 000/mm3, leukocytes 5 900/mm3, neutrophils ally benign. 2 700/mm3, and lymphocytes 2.66/mm3. Liver function tests reported TGO 66 UI/L, TGP 94 Case report IU/L, LDH 1 375 IU/L, prolonged prothrom- bin time PT of 17.1 seconds, and aPTT 29.5 Female 12-years-old mestizo patient from of seconds. Abdominal ultrasound revealed Perote, Mexico, the third child of a healthy hepatopathy of origin to be determined, free 33-year-old mother, eutocic delivery, with- fluids in cavity greater than 100mL, enlarged out perinatal complications. She was a high spleen (138x74mm) with hypoechoic area school student, of low socio-economic con- in the upper pole suggesting hematoma and ditions and fed with an adequate quantity of accessory splenic lobe. The abdominal X-ray food, with predominance of carbohydrates showed distended colon and an image sug- and vegetables. The onset of symptoms oc- gestive of splenic hematoma already confirmed curred 2 days before consultation, presenting by ultrasound. with diffuse abdominal pain, distension, nau- During her stay in the emergency room, a sea, tegument pallor and unquantified fever; hematologic assessment was requested, re- in consequence, she was taken to the emer- vealing non-immunological thrombocytopenia gency service of the General Hospital of Zone secondary to hypersplenism. The patient was Number 11 of Instituto Mexicano del Seguro also assessed by general surgery when hemo- Social in Xalapa, Mexico. dynamic instability and hemoglobin decrease Physical examination revealed tegument were observed, leading to decide an explorato- pallor, hyperemic oropharynx, tonsil hypertrophy, ry laparotomy before a possible hemoperitone- cervical adenitis, cardiopulmonary signs without um occurred, and was transferred to the oper- compromise, distended abdomen painful on ating room. palpation predominantly in left flank with sple- Hemoperitoneum was observed during the nomegaly 3-3-3 below costal margin, no hep- surgery, so 4000mL of blood were aspirated atomegaly on palpation, peritoneal irritation, di- and systematic cavity revision was initiated. minished peristalsis, petechiae on the limbs and Splenomegaly (20x10cm), broken subcapsu- ecchymosis, no edema and good capillary refill. lar hematoma and splenic accessory lobe were Medical history revealed a traumatic brain injury found (Figure 1). Splenectomy was performed a year earlier when another child threw a stone in which broken subcapsular hematoma was that accidentally hit her while they were playing. observed (Figure 2). During that episode, the girl presented with a Three units of erythrocyte concentrates subarachnoid hematoma that was drained with- (750mL) were transfused urgently and cefo- out complications, and was prescribed a treat- taxime and metronidazole were administered. ment with magnesium valproate. Furthermore, Pathology reported chronic passive splenic she had a history of recurrent upper respiratory congestion and subcapsular hematoma. infection; the last episode occurred three weeks The Paul-Bunnell test, which yields a posi- before developing the current symptoms. tive result when it detects heterophilic antibod- On admission to the emergency service, ies in the blood and a negative result when the complementary tests were performed, report- suspicion of MI and the investigation of het- ing Hb 7g/dl, Ht 22%, thrombocytopenia 94 erophile antibodies are persistent, was positive splenic rupture associated with thrombocytopenic purpura

in this patient, so it was not necessary to look ferrous fumarate supplement was adminis- 73 for specific EBV antibodies. The evolution of tered for 6 months, hospital discharge was the patient was satisfactory, the lesions in the given 5 days after the surgery, and the patient lower limbs disappeared, as well as the symp- was followed by external consultation at one toms. Vaccination against pneumococcus and the month, when an adequate health status influenza was applied without complications, was observed.

Figure 1. Subcapsular hematoma and splenic accessory lobe. Source: Own elaboration based on the data obtained in the study.

Figure 2. Splenic rupture. Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 70-6

74 Discussion gastrointestinal complications, which, in general, are very rare (11,12). Patients with infectious mononucleosis asso- MI diagnosis is clinical, but laboratory tests ciated with EBV do not require specific ther- are essential to confirm the cause or determine apeutic interventions. This infection occurs at the diagnosis in atypical presentations. The as- any age, but most cases associated with this sociation of heterophile antibodies response virus occur during adolescence or early adult- during the acute phase of MI was observed by hood. Therefore, the age of the patient has a Paul and Bunnell in 1932. They stated that, after profound influence on the clinical expression infection, 85-90% of the patients produce IgM of the infection. Young children tend to pres- heterophile antibodies, which agglutinate when ent signs such as dermatitis, neutropenia or they are mixed with ram or horse red blood pneumonia more frequently, while heterophile cells. This procedure was called the Paul-Bun- antibodies are negative in about half of the nell test; it was the first serological test devel- cases. As age increases, the disease developed for this disease, and is currently used to ops more symptoms, with an increase in se- establish a diagnosis. Heterophile antibodies rological positivity. At 25 years of age, most receive this name because they can react with people are seropositive and not susceptible to antigens from unrelated species (8,13). reinfection (3). The patient was assessed according to The typical clinical manifestations of MI her age group (adolescence) and presented are pharyngitis, fever and lymphadenopathy. the most symptomatic form of the disease In more than 50% of cases, pharyngitis is the with increased serological positivity, and der- most frequent symptom and can be severe. matological and hematological complications The onset may be abrupt, but usually prodromal with purpuric lesions and ecchymosis in the symptoms occur such as chills, diaphoresis, lower limbs due to a low platelet count. More- low-grade fever, anorexia, and malaise (4,5). over, she presented thrombocytopenic pur- Fever occurs in more than 90% of patients with pura secondary to infection. Immunological MI, usually showing peaks during the afternoon balance breakdown between B lymphocytes with values of 38-39°C, although they can be and the subtypes of T lymphocytes observed up to 40°C; in most cases, the fever resolves in this patient may lead to the appearance of within a period of 10 to 14 days (6,7,8). antibodies against platelets that would explain Dermatitis can be macular, erythematous, the purpura. (14). petechial, scarlatiniform, urticarial, herperti- Trombocytopenia associated with mono- form or similar to erythema multiforme, main- nucleosis may promote bleeding due to the de- ly involving the upper limbs and the trunk, crease of the manganese dismutase enzyme. and is observed in 5% of patients (9,10). Also, protection against free radicals decreas- The symptoms are well tolerated and have es because of the antibodies, altering the cap- a low frequency of complications. Most cas- illary endothelium and increasing the fragility of es have a benign course and patients should the spleen, leading to hypersplenism (15). receive only symptomatic management and Subsequently, the patient presented he- be warned of potential hematological, neuro- modynamic instability with shock, anemia and logical, cardiac, respiratory, dermatological, splenic rupture with ruptured subcapsular he- renal, splenic, hepatic, immunological and matoma that may have been preceded by an splenic rupture associated with thrombocytopenic purpura

75 intermittent subcapsular hemorrhage. Splenic Rev Chil Infect. 2003;20(4):235-42. http:// rupture is rare and presents as a picture of doi.org/chs3fk. acute abdominal pain (12); in consequence, 5. Lucas-Sendra R, Velilla-Antolín D, Ma- an emergency splenectomy was recommend- res-Diago FJ, Plaza-Miranda MA, Nava- ed for this patient. rro-Ortega D. Mononucleosis infecciosa y trom- Most cases of infectious mononucleosis bopenia grave. An Pediatría. 2012;77(3):200-2. are benign and self-limited, and resolve spon- http://doi.org/f2jktm. taneously within 2-3 weeks (5,10). 6. Toderescu P, García-Rioja Y. Rotura esplé- nica: una de las complicaciones más graves Conclusion de la mononucleosis infecciosa. A propósito de un caso. SEMERGEN. 2009;35(1):55-6. Spontaneous splenic rupture is a rare compli- http://doi.org/c7wmrk. cation, but possible due to infectious diseases, 7. García-Díaz MF, Iglesias-Fernández N, being malaria and infectious mononucleosis Menéndez-Ordás RE, Pardo-de la Vega the most frequent. Appropriate identification R, García-González V, Sánchez-Fon- and treatment of this emergency requires a techa MC. Utilidad de la serie blanca en el multidisciplinary approach and rapid action diagnóstico diferencial de la mononucleo- due to its high morbidity and mortality rates. sis infecciosa. Rev Pediatr Aten Primaria. 2014;16:e127-e31. Conflict of interests 8. Filatova EN, Anisenkova EV, Presnyako- va NB, Utkin OV. DR3 regulation of apop- None stated by the authors. tosis of naive T-lymphocytes in children with acute infectious mononucleosis. Acta Mi- Funding crobiol Immunol Hung. 2016;63(3):339-57. http://doi.org/f9hc8r. None stated by the authors. 9. Carrillo Herranz A, Ramos-Sánchez N, Sánchez-Pérez I, Lozano-Giménez C. Rotura espontanea de bazo secundaria References a mononucleosis infecciosa. An Pediatria. 2003;58(2):199-200. http://doi.org/f2kdwv. 1. Pila-Pérez R, Pila-Peláez R, del Sol-So- 10. Bolis V, Karadedos C, Chiotis I, Chalia- sa J. Purpura trombocitopenica secundaria sos N, Tsabouri S. Atypical manifestations a mononucleosis infecciosa: Reporte de un of Epstein-Barr virus in children: a diagnos- caso. AMC. 2008;12(1):1-7. tic challenge. J Pediatr. 2016;92(2):113-21. 2. Linde A. Diagnosis of Epstein-Barr virus-re- http://doi.org/cdpt. lated diseases. Scand J Infect Dis Suppl. 11. Goldshall SE, Kirchner JT. Infectious Mo- 2012;100: 83-8. nonucleosis. Complexities of a common sy- 3. Martin-Ruano J, Lázaro-Ramos J. Mono- ndrome. Postgrad Med. 2000;107(7):175- nucleosis infecciosa en la infancia. Pediatr 9:183-4. http://doi.org/dt3mnd. Integral. 2014;38(3):141-52. 12. Guglielmo MC, Dangelo S, Osorio MP. 4. Fica A. Síndrome de mononucleosis infec- Mononucleosis Infecciosa. Arch Argent Pe- ciosa en pacientes, adolescentes y adultos. diatr. 2011;109(4):e88-e90. Case reports Vol. 3 No. 2: 70-6

76 13. Julià J, Martínez X, Garau J. Rotura esplé- due to infectious mononucleosis. Mayo Clin nica de causa infecciosa. Enferm Infecc Mi- Proc. 2002;67:846-53. http://doi.org/cdps. crobiol Clin. 2000;18(3):133-6. 15. Vera-Izaguirre DS, Chávez-Tapia NC, Lizar- 14. Farley DR, Zietlow SP, Bannon MP, Far- di-Cervera J, Méndez-Sánchez N. Mononu- nell MB. Spontaneous rupture of the spleen cleosis Infecciosa. Med Sur. 2003;10(2):76-89. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.60058 AGENESIS OF THE GALLBLADDER AND CHOLEDOCHOLITHIASIS. CASE REPORT

Keywords: Gallbladder, abnormalities; Choledocholithiasis; Common bile duct diseases; Laparoscopy; CPRE (MeSH). Palabras clave: Vesícula biliar, Anomalías; Coledocolitiasis; Conductos biliares, anomalías; Laparoscopia; ERCP (DeCS).

Daniel Rodrigo Riaño Pinto Departamento de Cirugía Facultad de Medicina Universidad Nacional de Colombia Sede Bogotá – Colombia

Corresponding author: Daniel Rodrigo Riaño Pinto Department of Surgery - Faculty of Medicine - Universidad Nacional de Colombia Bogotá - Colombia. Email: [email protected]

Received: 13/9/2016 Accepted: 15/9/2017 Case reports Vol. 3 No. 2: 77-83

78 ABSTRACT El caso más exótico que puede encontrar el mismo, es la agenesia de la vesícula biliar, el Introduction. The most frequent elective sur- cual puede desorientar completamente a un gery in General Surgery is the gallbladder cirujano incluso experimentado, debido a que surgery (cholecystectomy)in General Surgery es la malformación con más baja incidencia in adults. There are many abnormalities of the de las vías biliares y sólo hay cerca de 500 gallbladder and the common bile duct. The casos reportados en la literatura.1 most uncommon case is gallbladder agenesis. It could be difficult even for a experimented sur- Presentación del caso. Se presenta el caso geon. It´s the most erratic biliar duct malforma- de una paciente de 44 años, con cuadro clíni- tion, and there are near 500 cases reported.(1) co de dolor abdominal en cuadrante superior derecho, historia clínica de ictericia y acolia, Case presentation. We present a case re- con elevación del perfil hepático (hiperbilirru- port of a 44 years old female patient, with ab- binemia directa) y alta probabilidad de coled- dominal pain in right superior quadrant, histo- ocolitiasis. En los estudios imagenológicos ry of jaundice and acholia, with higher hepatic (Ultrasonografia y Resonancia Nuclear Mag- enzymes and direct bilirubin, with high proba- nética de Vías biliares), no hubo hallazgo de bility of Choledocholithiasis. The images had vesícula biliar. not finding of the gallbladder (ultrasonogra- Por ende, se realizó la colangiografía pan- phy, Magnetic Resonance). The endoscopic creática retrograda endoscópica (CPRE) en la retrograde colangiopancreatography (ERCP) cual no se logró la extracción de cálculos, y re- was done, without removal of lithiasis and it quirió uso de Endoprótesis. Finalmente, el tra- used stent. tamiento derivó a exploración de Vías biliares Finally we did laparoscopy common bile por laparoscopia, en dónde se confirmó el ha- duct exploration, and the surgery confirmation llazgo de agenesia de vía biliar sospechado por of agenesis of the gallbladder, with mecanic la Resonancia Magnética y ecografías previas, lithotripsy, and the success with total resolution se realizó entonces litotripsia mecánica dirigida of the patology in the posterior medical control. con resolución completa del cuadro clínico. Y seguimiento posterior exitoso, con mejoría de Conclusion. Agenesis of the gallbladder is a la sintomatología inicial de la paciente. rare pathology that not many surgeons have the opportunity to treat. However, a surgeon Conclusión. La agenesia vesicular una pa- must be prepared for any malformation and tología extraordinaria que incluso el cirujano anatomical variant. general no se pueda encontrar alguna vez en su vida. Sin embargo, este debe estar prepa- RESUMEN rado para todas las malformaciones y vari- antes anatómicas. Introducción. Una de las cirugías electivas que más desarrolla el cirujano general en INTRODUCTION adultos, es la colecistectomía. Sin embargo, el cirujano debe estar preparado para múlti- Agenesis of the gallbladder is the least fre- ples hallazgos, entre ellas las malformaciones. quent malformation of the bile duct, with a agenesis of the gallbladder and choledocholithiasis

variable incidence between 0.01 and 0.06%, CASE PRESENTATION 79 according to the literature, although it may be lower, with a ratio women to men of 3:1 (1). 44-year-old woman from Bogotá D.C., mesti- This condition was first described by Lemery zo, who was initially treated in the outpatient in 1701, although other authors cite Bergman clinic for pain in the epigastrium and in the right in 1702 as the first (2). The literature shows hypochondrium, exacerbated by the intake of about 400 case series in total, which is why fatty foods, with approximately one year of evo- this case and literature review are relevant. lution The symptoms led to conclude a clinical Agenesis of the gallbladder is not an iso- picture suggestive of vesicular lithiasic pathol- lated malformation, since studies show great ogy, so an ambulatory ultrasound was per- association with other cardiovascular, geni- formed, showing no gallbladder, an intrahepat- tourinary and central nervous system condi- ic and extrahepatic bile duct of normal caliber, tions in up to 15-33% of the cases, specifi- and a 6 mm common bile duct. A subsequent cally pulmonary agenesis, tetralogy of Fallot, esophagogastroduodenoscopy discarded ac- and anomalies in the limbs and in the genito- id-peptic disease, so a magnetic resonance urinary tract (1,3-6). cholangiography (MRC) was requested. Most case series have been presented by Two weeks after the initial consultation, Kumar, who classifies patients with agenesis of the patient was admitted to the emergency the gallbladder into three groups: a) asymptom- department due to a clinical picture of three atic patients (35%) diagnosed after performing days of evolution consisting of abdominal studies to establish another cause; b) symp- pain in the epigastrium, which radiated to the tomatic patients (50%), of which 33% have a back, and subjective fever. No emesis nor ir- dilated primary bile duct and 33% lithiasis in the ritating urinary symptoms were observed, but main bile duct, and c) children with more com- choluria without acholia. plex congenital anomalies (15%) such as lung The patient presented the following surgi- agenesis, tetralogy of Fallot, and abnormalities cal history: tubal ligation and right hip osteot- of the limbs or the genitourinary system, which omy. Upon physical examination, mild jaundice are often incompatible with life (7). and pain were observed in the right hypochon- Moreover, if information relates only to drium and the epigastrium, without a positive symptomatic gastrointestinal cases, the sta- Murphy sign nor signs of peritoneal irritation. tistics become more revealing, since 34% of Paraclinical tests yielded the following them present with acid-peptic disease, and results: leukocytes: 13 395, N% 87; Hb: 14; 50% are symptomatic with respect to pathol- platelets: 344 000; amylase 34 U/L; total bil- ogy of the bile duct (7). Additionally, if only irubin: 4.66 mg/dL; direct bilirubin: 4.09 mg/ patients with biliary tract symptoms are con- dL; indirect bilirubin: 0.57 mg/dL; alkaline sidered, 33% present with dilation of the bile phosphatase: 1292 IU/L. duct and 33% with choledocholithiasis, while For its part, MRC showed generalized di- the remaining cases report sphincter of Oddi lation of the intrahepatic and extrahepatic bile dysfunction. With this in mind, it is possible ducts, common bile duct with an average dila- to conclude that vesicular agenesis is a risk tation of 1 cm, with presence of hyperintense factor for such pathologies, as some authors faceted images in T2. Gallbladder was not have suggested (1,6-9). identified (Figure 1). Case reports Vol. 3 No. 2: 77-83

80 of the liver profile and successful discharge after five days. Ambulatory follow-up showed an asymptomatic patient, without episodes of choluria, acholia or pain, so it was concluded that pain was completely resolved. Likewise, the patient showed tolerance to food; however, the patient did not attend subsequent follow-up sessions.

DISCUSSION

Agenesis of the gallbladder is a rare pathology that not many surgeons have the opportunity to treat. However, a surgeon must be prepared for any malformation and anatomical variant; actually, Skandalakis (10) points out vesicular triplication, which includes, Figure 1. MRC - 3D reconstruction of the coronal section in agenesis of the gallbladder and how to act the bile duct. Note the absence of gallbladder. when it is suspected. Source: Own elaboration based on the data obtained during the study. It should be noted that before 1950, ultrasound studies were not available, so cholelithi- Since several aspects indicated a high asis was diagnosed when oral cholecystogra- probability of choledocholithiasis, an endoscop- phy showed that the gallbladder was excluded ic retrograde pancreatic cholangiopancreatog- (it was not observed in radiological images). raphy (ERCP) was performed, revealing a di- When the patient underwent cholecystecto- lated, tortuous, and impacted intrahepatic bile my, surgeons were surprised to notice the ab- duct, with no possibility of extraction, therefore, sence of the gallbladder. placing a stent was decided. Consequently, Fortunately, today surgeons can plan pro- the case was taken to a surgical board to per- cedures in an optimal manner, since ultra- form laparoscopic bile duct exploration. sound has a performance close to 80 or 90%, During the procedure, the following findings and is sufficient in most cases. However, in a were observed: absence of gallbladder, edem- case such as the one presented here, in which atous biliary tract with duodenum adhesion, iat- a scleroatrophic vesicle, chronic cholecystitis rogenic duodenum lesion of 5 mm (during the and acalculous cholecystitis were identified — release of adhesions) and choledocholithiasis. the latter using tomographic studies—, agene- The procedure was performed by plas- sis of the gallbladder cannot be disregarded. In tron adhesiolysis, primary duodenorrhaphy these cases, other specialized methods such with absorbable suture by laparoscopy, and as MRC (Figure 2), endoscopic ultrasonogra- bile duct exploration by laparoscopy plus me- phy, ERCP, among others, can be helpful. (9). chanical lithotripsy. Before ultrasounds, Frey performed the In the postoperative period, the patient largest amount of surgeries involving vesicular presented a good evolution, with normalization agenesis, establishing a triad for its diagnosis agenesis of the gallbladder and choledocholithiasis

under the following criteria: absence of inflam- gallbladder (this dissection was extensive, in- 81 matory signs or fibrosis in the vesicular bed, cluding dissection of the left hypochondrium), complete dissection looking for an ectopic and intraoperative cholangiography (6).

Figure 2. MRC sequence in T2 of the bile duct. Note the absence of gallbladder. Source: Own elaboration based on the data obtained in the study.

However, this procedure was done be- phy should be performed, although it is not fore the laparoscopic era and the arrival of mandatory, as stated by Frey (11). MRC. Therefore, today it is considered that, However, despite the fact that postoper- during the surgical act, fibrous remnant or ative ERCP/MRC should inevitably be per- scar should be sought; the vesicular ectopic formed, in this case, MRC should always be position should be discarded (intrahepatic, considered, since agenesis is an exotic pa- adhered to the left lobe, falciform ligament, thology and the infrequent vesicular positions retroperitoneal or in the anterior abdominal mentioned above can be overlooked (3 -5,7- wall), and, according to the ability or criterion 14), thus avoiding, in the first instance, the of the surgeon, intraoperative cholangiogra- risks of ERCP when there is no lithiasis in the Case reports Vol. 3 No. 2: 77-83

82 primary bile duct (choledocholithiasis) (Fig- in part, to dysfunction of the sphincter of Oddi, ure 3). However, in the presence of agenesis, so many patients need surgery and lithotripsy, ERCP has been reported as not effective due, as happened in this case (15).

Figure 3. 3D reconstruction of the bile duct. Note the multiple hyperintense images, the major ones (yellow arrow) correspond to lithiasis of the bile duct. Source: Own elaboration based on the data obtained in the study.

Finally, the safety vision of Strasberg (16) • Not manipulating excessively the bile duct is recommended, since it is the most effective • Performing intraoperative cholangiography way to prevent bile duct injury as exposed in depending on the medical center, prefer- said reference. ence and experience of the surgeon Unfortunately, long-term follow-up was not • Unfailingly performing a postoperative possible, since the patient, as mentioned be- MRC fore, did not attend the subsequent controls, which is common in the Colombian context. CONFLICT OF INTERESTS

CONCLUSIONS None stated by the author.

Although it is not possible to make generalizations FUNDING based on the current evidence, other authors report two more cases in the region (17); there- None stated by the author. fore, the following steps are advisable when the intraoperative gallbladder cannot be identified: INFORMED CONSENT:

• Looking for the ectopic gallbladder The patient signed an informed consent • Looking for a scar in the liver bed that sug- during hospitalization for the completion of gests agenesis this report. agenesis of the gallbladder and choledocholithiasis

83 REFERENCES gora SM, Cruz RO, Muñoz GR. Agenesia de vesícula biliar. Reporte de un caso y revi- 1. Fernández GL, Blanco FG, Párraga del Moral sión de la literatura. Rev Mex Cir Endoscop. J, Grau-Talens L, Vinagre-Velasco LM, Téllez 2011;12(1):35-7. de Peralta FJ. Agenesis of the gallbladder con- 10. Skandalis JE, Branum GD, Colborn GL, firmed by nuclear magnetic resonance cholangio- Wediman TA, Sakandalakis PN, Skandalis gram. Rev Esp Enferm Dig. 2002; 94(5):286-7. LJ et al. Vías biliares extrahepáticas y vesícula 2. Cavazos -García R, Díaz-Elizondo JA, biliar. En: Skandalakis J.E. Skandalakis Cirugía. Flores-Villalba E, Rodríguez-García HA. Madrid: Marban; 2013. p. 974-1024 Gallbladder agenesis. Case report. Agenesia 11. Meilstrup JW, Hopper KD, Thieme GA. Ima- de la vesícula biliar. Reporte de caso. Cir Cir. ging of gallbladder variants. AJR. 1991;157:1205- 2015;83:424-8. doi: http://doi.org/cf2v. 8. doi: http://doi.org/cf25. 3. Waisberg J, Pinto PE Jr., Gusson PR, Fa- 12. Pérez-Moreiras MI, Couselo-Villanueva JM, sano PR, de Godoy CD. Agenesis of the ga- Maseda-Díaz DO, Arija-Val VF. Una verdadera llbladder and cystic duct. Sao Paulo Med J. agenesia vesicular. Cir Esp. 2007;82(4):246-7. 2002;120(6):192-4. 13. Afifi ES, Atef H, Wael B. Agenesis of the gallbla- 4. Bani-Hani KE. Agenesis of the gallbladder: di- dder with primary choledochal stones. Med Princ fficulties in management. J Gastroenterol Hepa- Pract. 2006;15:379-81. doi: http://doi.org/bwn9zg. tol. 2005;20(5):671-5. 14. Yener O, Buldanlı MZ, Eksioglu H, Leblebici 5. Flores-Valencia JG, Vital-Miranda SN, M, Alimoglu O. Agenesis of the gallbladder diagno- Mondragón-Romano SP, Garza-Salinas sed by magnetic resonance cholangiography: report LH. Agenesia vesicular: reporte de caso. Rev of a case and review of the literature. Prague Med. Med Inst Mex Seguro Soc. 2012;50(1):63-6. Rep.2015;116(1):52-6. doi: http://doi.org/f7fx5f. 6. Richards RJ, Taubin H, Wasson D. Agenesis 15. Tjaden J, Patel K, Aadam A. Gallbladder Age- of the gallbladder in symptomatic adults. A case nesis with Refractory Choledocholithiasis. Case and review of the literature. J Clin Gastroenterol. Reports in Gastrointestinal Medicine. 2015;Arti- 1993;16(3):231-3. cle ID 747931. http://doi.org/gb5r6m. 7. Vijay KT, Kocher HH, Koti RS, Bapat RD. 16. Strasberg SM. A teaching program for the Agenesis of gall bladder. A diagnostic dilemma. “culture of safety in cholecystectomy” and avoi- J Postgrad Med. 1996;42(3):80-2. dance of bile duct injury. J Am Coll Surg. 2013; 8. Orúe-Elorza JE. Agenesia de la vesícula biliar. 217(4):751. doi: http://doi.org/cf26. Presentación de un caso estudiado por RM-co- 17. Prieto RG, Andrade E, Martínez H, Silva E, langiografía. Cirugía Española. 2016;9(4):427-9. Brando C, Torres A. Agenesia de la vesícula 9. Muñoz HJ, Quirarte CC, Arribas MA, Gón- biliar. Rev Colomb Cir. 2015;30:193-7. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.60389 CONGENITAL SACCULAR CYST OF THE LARYNX. CASE REPORT AND LITERATURE REVIEW

Palabras clave: Quistes; Laringe; Ablación por catéter; Tratamiento de radiofrecuencia pulsada; Neonatos. Keywords: Cysts; Larynx; Catheter Ablation; Pulsed Radiofrequency Treatment; Newborn.

Ricardo Enrique Guerra, MD Department of Otolaryngology - Hospital Infantil Universitario de San José - - Fundación Universitaria de Ciencias de la Salud - Sede Bogotá - Bogotá D.C. - Colombia

Mauricio Puerta, MD Diana Patricia Anzola, MD - Fundación Universitaria de Ciencias de la Salud - Sede Bogotá - Bogotá D.C. - Colombia

Corresponding author: Diana Patricia Anzola. Fundación Universitaria de Ciencias de la Salud - Sede Bogotá Bogotá D.C. Colombia. Correo electrónico: [email protected]

Received: 1/10/2016 Accepted: 27/9/2017 congenital saccular cyst of the larynx

ABSTRACT RESUMEN 85

Introduction: Congenital saccular cyst is a Introducción. El quiste sacular congénito rare but benign lesion, caused by a dilated la- es una lesión rara, pero benigna, dada por ryngeal sac full of mucus that does not com- la dilatación del sáculo laríngeo que se llena municate with the laryngeal lumen. Its definitive de moco y que no se comunica con el lumen treatment is surgical according to the literature. laríngeo. Según la literatura, su tratamiento definitivo es quirúrgico. Objective: To review the literature and report a case of congenital laryngeal saccular cyst, as Objetivo. Realizar una revisión de la literatura well as its treatment by endoscopic approach y el reporte de un caso de quiste sacular larín- and radiofrequency, which is most easily found geo congénito y su tratamiento mediante abor- in our country. daje endoscópico y uso de radiofrecuencia.

Materials and methods: Presentation of a Materiales y métodos. Se realizó la pre- case report and literature review in PubMed and sentación del caso clínico y se llevó a cabo Tripdatabase using the described keywords. una revisión de la literatura en las bases de datos de Pubmed y Tripdatabase usando pa- Results: This is a rare condition with an inci- labras claves descritas. dence of 1.82 cases per 100 000 live births. Diagnosis is achieved by laryngeal endoscopy, Resultados. Esta patología es escasa, con images or clinical review. The case reported una incidencia de 1.82 casos por 100 000 here corresponds to a newborn patient with nacidos vivos. El diagnostico se realiza por respiratory distress and stridor, who was diag- medio de endoscopia laríngea, imágenes o nosed with laryngeal saccular cyst that was re- revisión de la clínica. El caso expuesto es de sected surgically by means of endoscopy and una paciente recién nacida que presenta es- radiofrequency, with no subsequent recurrence. tridor y dificultad respiratoria y es diagnosticada con quiste sacular laríngeo, el cual es Discussion: Understanding this disease is resecado de forma quirúrgica por medio de highly important to achieve proper diagnosis endoscopia con uso de radiofrecuencia. El and provide treatment using the resources procedimiento da como resultado la no rea- available in our country, such as radiofrequency. parición del quiste.

Conclusions: Despite the lack of case re- Conclusiones. Pese a no existir muchos reports, knowing the characteristics of con- portes de caso, hay que conocer las carac- genital saccular cyst is necessary to indicate terísticas del quiste sacular congénito para proper treatment based on the available re- poder realizar el tratamiento adecuado con sources. It is possible to perform endoscopic los recursos disponibles. Es posible realizar resection of this lesion if it is <3cm by means resección endoscópica de esta lesión si es of radiofrequency, which is a safe and effec- <3cm por medio de radiofrecuencia, un mé- tive method. todo seguro y eficaz.

Case reports Vol. 3 No. 2: 84-90

86 INTRODUCTION reconstruction under sedation was requested to assess the extension of the lesion. A right Laryngeal stridor is an important sign related to cystic-appearing lesion (1.3x1.2x2.1cm) was several pathologies of the airway. When it oc- observed, which compromised the hypophar- curs in neonates and is associated with respi- ynx, pyriform sinus, glottis and right supraglottic ratory distress, it must be treated urgently. One space, and caused loss of definition of laryn- of its causes, although rare, is congenital la- geal ventricle and right vocal structures with ryngeal saccular cyst (1); however, differential wall enhancement (Figure 2). Based on the diagnoses include more frequent pathologies findings, congenital laryngeal saccular cyst was such as laryngomalacia, tracheomalacia, sub- diagnosed. glottic stenosis, vocal cord paralysis, laryngocele, laryngeal membrane, among others (2). Saccular cyst is a benign supraglottic lesion that is usually unilateral, does not have an opening to the laryngeal ventricle and is greater than 1cm (3). This lesion corresponds to 25% of all laryngeal cysts (4) and to 2-5% of all benign laryngeal lesions (5,6). Since this is a very rare pathology and there is no exact data on its incidence, although some authors state that it is 1.82 per 100 000 live births (7), while others state that it is less than 1 per 300 000 live births (8).

CASE PRESENTATION

Full-term newborn patient with adequate Figure 1. Nasofibrolaryngoscopy with cystic image on the weight for gestational age, delivered via ce- right aryepiglottic fold, extended towards the ipsilateral sarean section and with polyhydramnios and piriform sinus and laryngeal ventricle. APGAR 10/10. The patient presented with Source: Own elaboration based on the data obtained in the study. respiratory deterioration 10 minutes after birth due to severe stridor and dysphonia. Respi- Surgical approach was performed by ratory distress was observed, which required means of microlaryngoscopy and endoscopic supplementary oxygen as first measure, soon resection of the laryngeal lesion with radiofre- moving to non-invasive mechanical ventilation quency (laryngeal electrode tip MC/AC/BC without improvement, and ending with orotra- 403, 100-300V, 100-500 kHz). The muco- cheal intubation. sa from the roof of the lesion was cauterized, Diagnostic nasofibrolaryngoscopy was the capsule incised, the cystic lesion resected performed, finding a cystic-appearing lesion at the superior level, and the dissection con- that occupied the right piriform sinus and ob- tinued until achieving communication of the structed the airway (Figure 1). Contrast com- cystic cavity with an ipsilateral laryngeal ven- puted tomography (CT) of the larynx with 3D tricle (ventriculostomy). Pre-surgical findings congenital saccular cyst of the larynx

included a cystic lesion that compromised the rejected by the right ventricular band until the 87 right aryepiglottic fold and extended to the laryngeal ventricle—, healthy vocal cords and posterior ipsilateral cricopharyngeal region — free subglottis.

Figure 2. Contrast coronal CT scan of the neck showing a cystic lesion extending from the piriform sinus to the trachea with a significant decrease in the caliber of the airway. Source: Own elaboration based on the data obtained in the study.

The patient was intubated for 9 days and DISCUSSION treated with antibiotic therapy and dexameth- asone IV due to postoperative edema. On The saccular cyst consists of a dilation of the day 10, adequate extubation tolerance was laryngeal ventricle filled with mucus that does achieved. Considering the circumstances, a not communicate with the laryngeal lumen checkup with microlaryngoscopy was per- (9). The sac is a diverticular structure that lies formed 8 days after surgery, and adequate between the ventricular bands and the vocal healing of the lesion and non-reproduction of cords, projects vertically upward between the cyst, glottis and free subglottis were observed base of the epiglottis and the medial portion (Figure 3). A postoperative control was per- of the thyroid cartilage, and contains a strat- formed after a year using nasofibrolaryngos- ified and cylindrical pseudostratified squa- copy without new surgical interventions, no mous epithelium with large numbers of mu- recurrence of the cyst, and adequate epithe- cous glands, which are believed to be used lization and laryngeal development. for the lubrication of the vocal cords (10,4). Case reports Vol. 3 No. 2: 84-90

Figure 3. Microlaryngoscopy A) Immediate postoperative period after marsupialization and resection of saccular cyst. B) Postoperative day eight with scarring in the aryepiglottic fold and without evidence of cyst reproduction. Source: Own elaboration based on the data obtained in the study.

The main symptom of this pathology is stri- sac, which, depending on its location, will dor at birth that can conceal laryngomalacia or make the cyst more extensive or not. This ob- congenital vocal cord paralysis, which appear struction can be caused by the abnormal mi- with stridor in the first weeks of life (11). Other gration of the tissue from the fourth branchial symptoms depend on the size of the lesion and arch generating the cystic formation (14) or its location; for example, dysphagia may occur by the isolation of the cells of the sac due to if the cyst occupies the hypopharynx (12) or the abnormal migration of mesenchymal cells if there is progressive respiratory distress un- through persistent fetal vessels in the larynx. til total airway obstruction, cyanosis, apnea, The second may be a consequence of sac hoarse cry and low-pitched cry, especially with obstruction secondary to neoplasia, trauma or changes of position or agitation. If the cyst is inflammation with subsequent fibrosis (15). on the right side, the symptoms are accentuat- Most of the literature found on congenital ed in the contralateral ulnar position (4). saccular cyst is based on case reports; in the Two types of saccular cysts are described most extensive study, data on 20 cases were in the literature: anterior and lateral. Anteri- collected in a period of 15 years (16), which or cysts are characterized by a submucosal makes the low incidence of this pathology ev- mass dependent on the false vocal cord that ident. This study found that the incidence in protrudes through the anterior portion of the the Hospital Infantil Universitario de San José ventricle, while lateral cysts, usually the most in the last 5 years has been 1 for every 22 common, occupy the entire ventricular band 318 live births. Most of the cysts are lateral and exit the pharynx through the mucosa of with an average size of <3cm, as the one de- the aryepiglottic fold (13). scribed in this article (3,7). The etiology of this pathology is not clear Diagnosis can be made through imaging since it can be congenital or acquired. The studies such as lateral radiography of soft tis- first is caused by obstruction or atresia of the sues of the neck, where a sac full of mucus congenital saccular cyst of the larynx

89 is visualized in the supraglottic region; using reports and case series use CO2 laser for en- CT or nuclear magnetic resonance is also doscopic resection (3,19,20). In Colombia, possible. Several authors state that diagnostic this laser is not available in all hospitals, so the confirmation is achieved through direct visual- procedure, in this case, was performed using ization of the lesion, either by direct or optical radiofrequency. Of all the articles reviewed, fiber laryngoscopy (17,15), as described here. only the series by Kumar et al. (16) used this The treatment of this pathology is main- resection method and demonstrated that it is ly surgical and includes the aspiration of the safe and effective because it improves surgi- cystic content with needle and marsupializa- cal precision and the healing time of the mu- tion, and even cyst excision via endoscopy or cosa, minimizes bleeding in the surgical site, external approach (17,18). The first two are preserves the surrounding tissues, and only 1 considered insufficient treatments because, of 6 cases require a second surgery (16). In in the first case, the mucosa glands of the this case, not only the cyst was resected, but cyst continue to secrete mucus, thus generat- a vestibulectomy was also performed, leading ing reappearance, and in the second, multiple to a lower risk of recurrence (1). procedures are required due to cyst recur- Despite the low frequency of this patholo- rence that can easily generate laryngeal ste- gy, it is important to know and be able to diagnosis with subsequent tracheotomy (8,19). nose and treat it safely and effectively with the The excision of the cyst by microlaryngosco- resources available in most hospitals in Colom- py and external approach are the treatments bia. This is useful to avoid significant compro- with the highest success rates according to mise of the patient’s airway. the literature. However, some authors, such as Ward et al. (12), recommend resection by CONCLUSIONS means of an external approach as the only definitive and safe treatment for the non-for- It was possible to resect a laryngeal saccu- mation of laryngeal stenosis, given the poor lar cyst smaller than 3cm in a safe and effec- manipulation of the laryngeal mucosa. tive manner through microlaryngoscopy and There are case reports such as Khodaei et radiofrequency, despite the lack of case re- al. (17) and Danish et al. (5) which establish ports regarding the use of this method. microlaryngoscopy with CO2 laser as the first line of management and the most used treat- CONFLICT OF INTERESTS ment. Lateral cervicotomy through the thyroid membrane is used for complex, recurrent or> None stated by the authors. 3cm cysts, since they can increase anesthesia time and pose a higher risk of superior laryngeal FUNDING nerve injury (8,19,20). Another endoscopic approach that has shown lower morbidity is CO2 None stated by the authors. laser vestibulectomy, since it reduces surgical time, avoids vascular or superior laryngeal nerve REFERENCES damage and accelerates tissue recovery. (20). The definitive management, as stated in 1. Rangachari V, Aggarwal R, Jain A, Kapoor the literature, is microlaryngoscopy, since most MC. Neonatal airway lesions: our experience Case reports Vol. 3 No. 2: 84-90

90 and a review of the literature. J Laryngol Otol. H. Kyste laryngé congénital: une cause rare 2013;127(1):80-3. http://doi.org/f4jbcb. de stridor chez le nouveau-né. Arch Pediatri. 2. Holinger LD, Barnes DR, Smid LJ, Holin- 2012;19(4):425-8. http://doi.org/cdk6. ger PH. Laryngocele and Saccular Cysts. 12. Ward RF, Jones J, Arnold JA. Surgical Ma- Ann Otol Rhinol Laryngol. 1978;87(5 Pt nagement of Congenital Saccular Cysts of the 1):675-85. http://doi.org/cdkm. Larynx. Ann Otol Rhinol Laryngol. 1995;104(9 3. Monnier P, editor. Pediatric airway surgery: Pt 1):707-10. http://doi.org/cdk7. management of laryngotracheal stenosis in 13. Prasad KC, Ranjan RK, Agarwal S, Pra- infants and children. Berlin: Springer; 2011. sad SC, Bhat J. Congenital laryngeal saccu- 4. Shantharam L, Somashekara KG, Priya lar cyst: report of a case in an infant. Ear Nose NS. Saccular Cyst of Larynx. Int J Phonosurg Throat J. 2006 [cited 2017 Sep 27];85(1):49- Laryngol. 2013;3(1):21-3. http://doi.org/cdkn. 51. Available from: https://goo.gl/DkLgXE. 5. Danish HM, Meleca RJ, Dworkin JP, Abba- 14. Tosun F, Söken H, Ozkaptan Y. Saccular rah TR. Laryngeal Obstructing Saccular Cysts: A cyst in an infant: an unusual cause of life-threa- Review of This Disease and Treatment Approach tening stridor and its surgical treatment. Turk J Emphasizing Complete Endoscopic Carbon Dioxi- Pediatr. 2006 [cited 2017 Sep 26];48(2):178- de Laser Excision. Arch Otolaryngol Head Neck 20. Available from: https://goo.gl/cnUApr. Surg. 1998;124(5):593-6. http://doi.org/cdkp. 15. DeSanto LW, Devine KD, Weiland LH. 6. Rodríguez H, Zanetta A, Cuestas G. Cysts of the larynx--classification. Laryngosco- Quiste sacular congénito de laringe: una cau- pe. 1970;80(1):145-76. http://doi.org/fp5vj2. sa rara de estridor en neonatos y lactantes. 16. Kumar S, Garg S, Sahni JK. Radiofrequen- Acta Otorrinolaringol Esp. 2013;64(1):50-4. cy ablation of laryngeal saccular cyst in in- http://doi.org/f2h7hk. fants: A series of six cases. Int J Pediatr Otor- 7. Righini CA, Kadaoui H, Morel N, Llerena hinolaryngol. 2012;76(5):667-9. http://doi. C, Reyt E. Stridor in a newborn caused by a org/f3xfx5. congenital laryngeal saccular cyst. Int J Pe- 17. Khodaei I, Karkanevatos A, Poulios A, Mc- diatr Otorhinolaryngol Extra. 2006;1(2):145- Cormick MS. Airway obstruction in a newborn 9. http://doi.org/c6h7xk. due to a congenital laryngeal cyst. Int J Pediatr 8. Kinnunen I, Klemi P, Grenman R. Saccular Otorhinolaryngol Extra. 2007;2(4):254-256. laryngeal cysts. Three case studies and review of http://doi.org/c22fhx. the literature. ORL J Otorhinolaryngol Relat Spec. 18. Thabet MH, Kotob H. Lateral saccular cysts 2000;62(2):109-11. http://doi.org/ccwhx6. of the larynx. Aetiology, diagnosis and mana- 9. Young VN, Smith LJ. Saccular cysts: A cu- gement. J Laryngol Otol. 2001;115(4):293-7. rrent review of characteristics and manage- http://doi.org/cwdngq. ment. Laryngoscope. 2012;122(3):595-9. 19. Massoth LJ, Digoy GP. Flexible carbon http://doi.org/fzwx8x. dioxide laser-assisted endoscopic marsupia- 10. Pereira KD. Laryngeal saccular cyst in an lization and ablation of a laryngeal saccular infant. Ear Nose Throat J. 2009 [cited 2017 cyst in a neonate. Ann Otol Rhinol Laryngol. Sep 26];88(1):726-7. Available from: https:// 2014;123(8):541-4. http://doi.org/f6b7f9. goo.gl/9HPYBE. 20. Mitchell DB, Irwin BC, Bailey CM, Evans 11. Nouri-Merchaoui S, Yacoubi MT, Hmis- JNG. Cysts of the Infant Larynx. J Laryngol Otol. sa S, Kalamoun I, Mahdhaoui N, Seboui 1987;101(8):833-7. http://doi.org/fpdfb4. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.60485 Spontaneous pneumomediastinum. Case report

Palabras clave: Enfisema mediastiníco, Enfisema subcutáneo. Keywords: Mediastinal Emphysema; Subcutaneous Emphysema.

Laura Marcela Velásquez Gaviria, MD • Andrés Fernando Rodríguez Gutiérrez, MD Sebastián Felipe Sierra Umaña, MD • Andrés Garcés Arias, MD Department of Internal Medicine – Faculty of Medicine – Universidad Nacional de Colombia Bogotá – Colombia

Laura Salazar Franco • Luis David Sáenz Pérez Sebastián Salinas Mendoza • Cristian Alejandro Castillo Rodríguez Medical Program – Faculty of Medicine – Universidad Nacional de Colombia Bogotá – Colombia

Diego Fernando López Donato, MD Luisa Fernanda Patiño Unibio, MD Department of Radiology Department de Internal Medicine Faculty of Medicine Faculty of Medicine Universidad Nacional de Colombia Pontificia Universidad Javeriana Bogotá – Colombia Bogotá – Colombia

Corresponding author: Sebastián Felipe Sierra Umaña Universidad Nacional de Colombia Bogotá – Colombia. Email: [email protected]

Received: 8/10/2016 Accepted: 22/5/2017 Case reports Vol. 3 No. 2: 84-90

92 ABSTRACT 13 to 35 (3); a study by Cáceres et al. (4) reported a similar incidence between men and Introduction: Spontaneous pneumomedias- women. In 1944, Macklin et al. suggested tinum (SPM) is defined as the presence of air that SPM originates after an alveolar rupture in the mediastinum. It is a rare entity consid- caused by increased intrathoracic pressure, ered benign and self-limiting, which mostly af- with subsequent passage of air into the in- fects young adults. Its diagnosis is confirmed terstitium and bronchovascular tissues of the through clinical and radiological studies. tracheobronchial tree (5). The most frequent symptoms are chest Case description: 21-year-old male patient pain, dysphagia, persistent cough and dyspnea, with cough and greenish expectoration for four while risk factors include chronic obstructive days, associated with dyspnea, chest pain, fe- pulmonary disease, asthma, and tobacco and ver and bilateral supraclavicular subcutaneous illicit drugs use. In addition, precipitating fac- emphysema. Chest X-ray suggested pneumo- tors such as nausea, vomiting, cough, upper mediastinum, which was confirmed by tomog- respiratory tract infection and strenuous phys- raphy. The patient was hospitalized for obser- ical exercise have been observed (3). SPM vation and treatment. After a positive evolution, cases have also been reported as complica- he was discharged on the sixth day. tions of pneumonia by influenza A (H1N1) in children, mainly during the pandemic period of Discussion: SPM is a differential diagnosis in this infection in 2009 (6). patients with chest pain and dyspnea. Its prev- The goal of treatment is to control symp- alence is lower than 0.01% and its mortality toms and may require observation. The length rate is low. It should be suspected in patients of hospital stay varies from a few hours to sev- with chest pain and subcutaneous emphyse- eral days (2,4). This article presents a SPM ma on physical examination. Between 70 and case in a young adult. 90% of the cases can be identified by chest X-ray, while confirmation can be obtained Case description through chest tomography. In most cases it does not require additional studies. 21-year-old male patient from Garagoa (Boyacá), resident of Bogotá D.C. Colom- Conclusion: SPM is a little known cause of bia, an industrial automation student, mestizo, acute chest pain, and rarely considered as a socioeconomic stratum 3, who presented a differential diagnosis; it is self-limited and has clinical picture of four days of evolution con- a good prognosis. sisting of cough with greenish expectoration, dyspnea, chest pain, and unquantified fever. Introduction On physical examination he did not have respiratory distress and his vital signs were nor- SPM is defined as the presence of air in the mal. Bilateral supraclavicular subcutaneous mediastinum without an apparent secondary emphysema, decreased vesicular murmur and cause (1). It is rare, benign and self-limiting, bilateral intermittent wheezing were identified; and affects mostly young adults with an av- no other abnormal findings were observed. erage age of 25 years (2), ranging between The patient had no relevant medical history. spontaneous pneumomediastinum

Based on the clinical and epidemiological suspected. Leukocytosis with neutrophilia 93 characteristics, an acute respiratory infection and mild oxygenation disorder was found in of viral origin was considered; in addition, the requested paraclinical exams (Table 1), due to the presence of subcutaneous em- while left chest and left supraclavicular soft physema and alterations in pulmonary aus- tissues were observed on the chest radio- cultation, spontaneous pneumothorax was graph (Figure 1).

Table 1. Paraclínical exams.

On admission Control at 72 hours

Leukocytes 14670 cell/mm3 Leukocytes 12150 cell/mm3 Neutrophils 13670 cell/mm3 Neutrophils 8240 cell/mm3 Hematogram Hemoglobin 17 g/dL Hemoglobin 16.7 g/dL Hematocrit 48% Hematocrit 47.7% Platelets 257000 cells/mm3 Platelets 264000 cell/mm3

pH 7.43 pH 7.43 PO2 55.8 mmHg PO2 62.6 mmHg FiO2 0.24 FiO2 0.21 Arterial blood gas PCO2 35.6 mmHg PCO2 33.7 mmHg PAFI 232.7 PAFI 297 HCO3 23.3 mmol/L HCO3 22.3 mmol/L BE -0.4 mmol/L BE - 0.6 mmol/L

Source: Own elaboration based on the data obtained in the study.

Figure 1. PA chest x-ray: pneumomediastinum, delimitation of anatomical structures allowing a neat visualization of its contours (arrow). Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 84-90

94 Later, a chest tomography was performed, secondary to an acute respiratory infection of vi- which showed air in the anterior, middle, pos- ral origin was diagnosed; the patient was main- terior and superior mediastinum, reaching the tained under observation, and treatment includ- lower neck (Figure 2). Due to the absence of ing oxygen through nasal cannula, respiratory risk factors related to secondary causes, SPM therapy, analgesia and rest was indicated.

Figure 2. Chest tomography, coronal plane: pneumomediastinum, presence of infracarinal and paratracheal air (sepia arrow). Left supraclavicular subcutaneous emphysema is also observed. Source: Own elaboration based on the data obtained in the study.

The patient improved during follow-up, 0.01% and has a recurrence rate of 1.6% per period in which leukocytosis and oxygenation year (8,9). SPM is a differential diagnosis in disorder were corrected (Table 1), and was patients with chest pain and dyspnea, and is discharged after six days of hospitalization. believed to be caused by alveolar rupture due Outpatient radiographic monitoring was re- to increased intraalveolar pressure (1,10); quested and he was given recommendations therefore, its association with pneumothorax and warning signs. The patient did not present is frequent, being found in 32% of patients adverse drug reaction or other events during (11). In 44% of cases, patients have a history hospitalization. of congestive lung disease, such as asthma, chronic obstructive pulmonary disease, inter- Discussion stitial disease, pulmonary fibrosis, pneumoni- tis, among others (11). Pneumomediastinum was first reported in The mean age at diagnosis is 25 years 1819 by René Laennec while spontaneous (11), similar to that of patients with sponta- pneumomediastinum was described in 1939 neous pneumothorax (9). In 34% to 49% of by Louis Hamman (7). Its incidence is less than the cases, precipitating factors, such as in- spontaneous pneumomediastinum

haled drug abuse, acute respiratory infection, sign appear. The delimitation of the inner and 95 vomiting, asthmatic crisis and intense exer- outer wall of the bronchus is possible due to cise are observed (9,11). the presence of intra and extraluminal gas, The most common clinical manifesta- generating a double wall sign. The continu- tions include chest pain (68-78.1%), dyspnea ous diaphragm sign is caused by air posterior (28.1-44%), sore throat (14.1-28%) and cervi- to the pericardium. cal pain (54.7%) (9,12). Furthermore, subcuta- Other radiological signs include subcu- neous emphysema is the most frequent symp- taneous emphysema, radiolucent lines in the tom in about 40 to 100% of patients (9,12,13); upper mediastinum, pneumoprepericardium, in contrast, Hamman’s sign (systolic crackle “Naclerio V”, extrapleural air sign and, thymic heard with a stethoscope at the left sternal bor- wing sign caused by the delimitation of the der) is found in only 20% of cases (14,15). thymus in children (16,21). Chest tomogra- Its presentation is usually masked be- phy delimits the extension of the pneumome- cause of the low specificity of the symptoms diastinum, and provides information about its and the lack of knowledge of this entity (16). etiology and differential diagnoses (21,22). The diagnosis is made based on clinical man- In most cases studies that look for sec- ifestations and radiological confirmation, in ondary causes are unnecessary, since, in gen- addition to searching for triggers (4,17). 79% eral, there are no alterations of the respiratory of the patients are diagnosed in the emer- or digestive tracts. Advanced diagnostic pro- gency room, 11% in the critical care unit, 2% cedures, restricting diet, administering antibi- during hospitalization, and 8% in outpatient otics and prolonging hospitalization stay are consultations (11). not appropriate measures (19). SPM has a Radiological studies of the thorax are im- good prognosis and can be treated conserva- portant in the evaluation and exclusion of sec- tively (18), which has shown good results in ondary causes (9), and are sufficient to con- different studies (2,9,19,23). Such treatment firm the diagnosis (18). Not all patients with consists of analgesia, rest, oxygen and bron- pneumomediastinum require contrast radio- chodilators (24). graphic imaging, which is reserved for patients In theory, oxygen supplementation is of who are suspected of having a tracheobron- great importance for treatment, regardless of chial or esophageal injury, especially when the presence of an oxygenation disorder, since vomiting, dysphagia, known gastrointestinal it increases the pressure of nitrogen diffusion disease, trauma, fever, hemodynamic instabil- in the interstitium and promotes the absorption ity, pleural effusion or pneumoperitoneum are of free air (16) accelerating the resolution time. involved (19). The mean time of hospitalization is 4.6 Around 70% to 90% of SPM cases can days (9) and its management in a critical care be identified by chest X-ray (20). The pres- unit is unnecessary unless required or in cas- ence of mediastinal air creates an interface es in which esophageal rupture is highly sus- with the anatomical structures that allows pected (19). Once the patient is discharged, to visualize its contours neatly. Radiological radiological follow-up can be performed until signs depend on the quantity and location of full resolution (16). the air (21): when it surrounds the vascular The case described here corresponds structures, the ring sign and the tubular artery to a patient, whose epidemiological, clinical Case reports Vol. 3 No. 2: 84-90

96 and radiological characteristics are the most pneumomediastinum: 41 cases. Eur J Cardio- frequently reported in the literature. This is a thorac Surg. 2007;31(6):1110-4. http://doi. typical case that contributes to the diagnos- org/fntj86. tic approach in young patients who present 2. Jougon JB, Ballester M, Delcambre F, chest pain on arrival to the emergency room. Mac Bride T, Dromer CE, Velly JF. Assess- It is important to mention that this case had ment of spontaneous pneumomediastinum: ex- several limitations, including the lack of mi- perience with 12 patients. Ann Thorac Surg. crobiological isolation of the germ responsi- 2003;75(6):1711-4. http://doi.org/b5h8qp. ble for the acute respiratory infection, radio- 3. Perna V, Vilà E, Guelbenzu JJ, Amat I. Pneu- logical control, and information on outpatient momediastinum: is this really a benign entity? follow-up to objectify the resolution of pneu- When it can be considered as spontaneous? Our momediastinum. However, this report is im- experience in 47 adult patients. Eur J Cardiothorac portant because it illustrates a radiological- Surg. 2010;37(3):573-5. http://doi.org/dhj7vg. ly confirmed clinical case of a rare disease 4. Caceres M, Ali SZ, Braud R, Weiman D, Ga- causing chest pain. rrett HE Jr. Spontaneous pneumomediastinum: a comparative study and review of the literature. Conclusion Ann Thorac Surg. 2008;86(3):962-6. http://doi. org/bmrrgw. SPM is a rare entity that requires high clinical 5. Macklin MT, Macklin CC. Malignant interstitial suspicion for both diagnosis and radiological emphysema of the lungs and mediastinum as an confirmation. Its treatment is symptomatic important occult complication in many respiratory and has a good prognosis. SPM should be diseases and other conditions: an interpretation considered as a differential diagnosis in pa- of the clinical literature in the light of laboratory tients with chest pain. experiment. Medicine. 1944;;23(4):281-358. 6. Hasegawa M, Hashimoto K, Morozumi Conflict of interest M, Ubukata K, Takahashi T, Inamo Y. Spontaneous pneumomediastinum compli- None stated by the authors. cating pneumonia in children infected with the 2009 pandemic influenza A (H1N1) vi- Funding rus. Clin Microbiol Infect. 2010;16(2):195-9. http://doi.org/bjtq8j. None stated by the authors. 7. Hamman L. Spontaneous mediastinal emphysema. Bull Johns Hopkins Hosp. 1939;64:1-21. Acknowledgement 8. Lee SS. An unusual cause of chest pain in army trainee - spontaneous pneumomediastinum. Med Hospital Universitario Nacional de Colombia. J Malaysia. 2016 [cited 2016 Jul 19];71(1):30-1. Bogotá, Colombia. Available from: https://goo.gl/jxLuH4. 9. Kim KS, Jeon HW, Moon Y, Kim YD, Ahn Referencias MI, Park JK, et al. Clinical experience of spontaneous pneumomediastinum: diagnosis and 1. Macia I, Moya J, Ramos R, Morera R, Es- treatment. J Thorac Dis. 2015;7(10):1817-24. cobar I, Saumench J, et al. Spontaneous DOI: 10.3978/j.issn.2072-1439.2015.10.58. spontaneous pneumomediastinum

97 10. Ba-Ssalamah A, Schima W, Umek W, He- Intern Med. 1984;144(7):1447-53. http://doi. rold CJ. Spontaneous pneumomediastinum. Eur org/dq9k93. Radiol. 1999;9(4):724-7. 18. Pekcan S, Gokturk B, Uygun Kucukapan H, 11. Iyer VN, Joshi AY, Ryu JH. Spontaneous pneu- Arslan U, Findik D. Spontaneous pneumome- momediastinum: analysis of 62 consecutive adult diastinum as a complication in human bocavirus patients. Mayo Clin Proc. 2009;84(5):417-21. infection. Pediatr Int. 2014;56(5):793-5. http:// http://doi.org/fx5q9h. doi.org/bxxk. 12. Takada K, Matsumoto S, Hiramatsu T, Ko- 19. Al-Mufarrej F, Badar J, Gharagozloo F, jima E, Watanabe H, Sizu M, et al. Manage- Tempesta B, Strother E, Margolis M. Spon- ment of spontaneous pneumomediastinum based taneous pneumomediastinum: diagnostic and on clinical experience of 25 cases. Respir Med. therapeutic interventions. J Cardiothorac Surg. 2008;102(9):1329-34. http://doi.org/cxbdps. 2008;3:59. http://doi.org/dd3krd. 13. Miura H, Taira O, Hiraguri S, Ohtani K, Kato 20. Kaneki T, Kubo K, Kawashima A, Koizumi T, H. Clinical Features of Medical Pneumomedias- Sekiguchi M, Sone S. Spontaneous pneumo- tinum. Ann Thorac Cardiovasc Surg. 2003 [cited mediastinum in 33 patients: yield of chest compu- 2016 Jul 19];9(3):188-91. Available from: ht- ted tomography for the diagnosis of the mild type. tps://goo.gl/sqPfQy. Respiration. 2000;67(4):408-11. http://doi.org/ 14. Kelly S, Hughes S, Nixon S, Paterson-Brown ds54t3. S. Spontaneous pneumomediastinum (Hamman’s 21. Zylak CM, Standen JR, Barnes GR, Zylak syndrome). Surgeon. 2010;8(2):63-6. http://doi. CJ. Pneumomediastinum Revisited. RadioGra- org/bm75vb. phics. 2000;20(4):1043-57. http://doi.org/bxxn. 15. Koullias GJ, Korkolis DP, Wang XJ, Ham- 22. Bakhos CT, Pupovac SS, Ata A, Fantauzzi JP, mond GL. Current assessment and manage- Fabian T. Spontaneous pneumomediastinum: an ment of spontaneous pneumomediastinum: ex- extensive workup is not required. J Am Coll Surg. perience in 24 adult patients. Eur J Cardiothorac 2014;219(4):713-7. http://doi.org/bxxp. Surg. 2004;25(5):852-5. http://doi.org/c76m89. 23. Banki F, Estrera AL, Harrison RG, Miller 16. Sahni S, Verma S, Grullon J, Esquire A, CC, Leake SS, Mitchell KG, et al. Pneumo- Patel P, Talwar A. Spontaneous pneumome- mediastinum: etiology and a guide to diagnosis diastinum: time for consensus. N Am J Med Sci. and treatment. Am J Surg. 2013;206(6):1001-6. 2013;5(8):460-4. http://doi.org/bxxj. http://doi.org/bxxq. 17. Maunder RJ, Pierson DJ, Hudson LD. Sub- 24. Abolnik I, Lossos IS, Breuer R. Spontaneous cutaneous and mediastinal emphysema. Pa- pneumomediastinum. A report of 25 cases. thophysiology, diagnosis, and management. Arch Chest. 1991;100(1):93-5. http://doi.org/b9mxrh. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.61493 ASCENDING AORTIC DISEASE IN A PATIENT WITH MARFAN SYNDROME

Palabras clave: Aneurisma de la Aorta; Cirugía torácica; Aorta Torácica; Disección aórtica aguda, Marfan. Keywords: Aortic Aneurysm; Thoracic surgery; Thoracic aorta; Acute Aortic Dissection, Marfan.

Edison Ricardo Espinoza Saquicela General Surgeon Cardiothoracic Surgery resident Instituto Nacional de Cardiología Ignacio Chávez Universidad Nacional Autónoma de México Mexico City – México

Stefanía del Cisne Serrano Olmedo General Surgeon Urology resident. Hospital Juárez de México Universidad Nacional Autónoma de México Mexico City - México

Corresponding author: Edison Ricardo Espinoza Saquicela Instituto Nacional de Cardiología Ignacio Chávez Universidad Nacional Autónoma de México Ciudad de México. México Email: [email protected]

Received: 10/12/2016 Accepted: 15/10/2017 ascending aortic disease in a patient with marfan syndrome

ABSTRACT this condition, hence the importance of prop- 99 er diagnosis and management. Introduction. Acute thoracic aortic dissection is caused by a tear in the intimal lining of RESUMEN the aorta, and is a symptom of acute aortic syndrome. The dissection allows the blood to Introducción. La incidencia de síndrome de pass through the rupture and separates the tu- Marfan que ha sido reportada a nivel mundial nica intima from the tunica media or the tunica es de 1 en 5000 casos, de los cuales apro- adventitia, creating a false intravascular light. ximadamente el 80% o más desarrollan com- Early diagnosis directly affects the chances of plicaciones cardiovasculares. La disección survival, since it is a medical emergency that aórtica torácica aguda requiere una rotura en can lead to death, even with optimal treatment. la íntima de la aorta, que forma parte del sín- drome aórtico agudo. En la disección, la san- Case description. The following report pres- gre pasa a través de la rotura y separa la ínti- ents the case of a 26-year-old man with a his- ma de la media o la adventicia, lo que crea una tory of Marfan syndrome, retrosternal lancinat- falsa luz intravascular. Un diagnóstico tempra- ing pain, nausea, vomiting, and medium effort no incide directamente en las posibilidades dyspnea that evolved to orthopnea, perioral cy- de supervivencia, pues se trata de una emer- anosis, murmur of aortic insufficiency and mitral gencia médica que puede llevar a la muerte, systolic murmur. Complementary studies (chest incluso con un tratamiento óptimo. x-ray, electrocardiogram, angiography, tomography, and echocardiogram) were performed, Descripción del caso. Se presenta el caso obtaining a diagnosis of Stanford type A as- de un hombre de 26 años con antecedente cending aortic dissection. Surgical treatment de síndrome de Marfan, dolor retro esternal was indicated to replace the aortic root using a lancinante, náusea, vómito, disnea de media- composite prosthesis and Bentall and De Bono nos esfuerzos que evolucionó a ortopnea, cia- coronary reconstruction. During the procedure, nosis peribucal, soplo de insuficiencia aórtica right coronary button destructuration occurred, y soplo sistólico mitral. Se realizaron estudios so it was necessary to perform a venous bypass complementarios (radiografía de tórax, elec- with a left internal saphenous venous hemod- trocardiograma, angiografía, tomografía, eco- uct. Weaning extracorporeal circulation was cardiograma) y se le diagnosticó disección de achieved and then low expenditure of refracto- aorta ascendente tipo A Stanford, por lo que se ry character (despite vasopressor support at decidió iniciar tratamiento quirúrgico mediante maximum dose), refractory ventricular fibril- reemplazo de la raíz aórtica mediante prótesis lation and asystole were observed. The patient compuesta y reconstrucción coronaria tipo did not recover and died as a consequence of Bentall y de Bono. En el procedimiento se pre- acute transoperative myocardial infarction. sentó desestructuración de botón coronario derecho, por lo que fue necesario realizar puente Conclusion. The treatment for ascending venoso con hemoducto venoso de safena inter- aortic dissection remains a therapeutic chal- no izquierdo. Se logró destete de circulación lenge. Timely diagnosis is directly related to extra corpórea y luego se observó bajo gasto de life expectancy in patients who suffer from carácter refractario (pese a soporte vasopresor Case reports Vol. 3 No. 2: 98-106

100 a dosis máxima), fibrilación ventricular refracta- nosis directly affects the chances of survival, ria y asistolia; el paciente no mostró recupera- since it is a medical emergency that can lead ción y falleció como consecuencia de un infarto to death, even with optimal treatment. agudo de miocardio transoperatorio. The Stanford classification is used to better understand aortic dissection. It is divided Conclusión. El tratamiento de la disección into types A and B. Group A includes the aórtica de aorta ascendente sigue siendo un dissections that involve the ascending aor- desafío terapéutico. El diagnóstico oportuno ta, which is why they are considered to pose tiene relación directa con la esperanza de higher risk because the dissection and false vida de quienes lo padecen, de ahí su impor- light that is generated can rapidly affect tancia diagnóstica y su manejo. the coronary ostium and compromise the blood flow to the myocardium, leading to a INTRODUCTION massive and fulminating infarction, hence the importance of timely diagnosis and appropri- Marfan syndrome is a rare connective tis- ate surgical treatment. sue disorder that equally affects men and In many cases, if the aortic root is dilated, women (autosomal dominant), with an and depending on the degree of the dilation, approximate incidence rate of 1 in 5 000 the apparatus of the aortic valve is affected, people. It is characterized by an alteration which implies a backward flow of blood to in the production of fibrillin due to a muta- the ventricles with the consequent decrease tion in the FBN1 gene of chromosome 15, in the volume of ventricular ejection. To com- which weakens the connective tissue of pensate this anomaly, the cavities of the heart the body, whether tendinous, ligamentous, increase their size, in other words, a cardiac cartilaginous, vascular or heart valves. (1). dilation occurs. It is worth noting that not all patients with The estimated mortality rate for type A aor- this syndrome develop the same symptoms tic dissection is directly related to the time of or severity (allelic heterogeneity) (2). Since evolution, being of 1% per hour within the first the aorta wall is weak, a dilatation of the 24 hours, 29% at 48 hours, 44% after a week, aorta occurs leading to an aortic aneurysm. and reaching 50% at two weeks. Therefore, In addition, if there is a rupture in the vascu- emergency surgery is the best option. lar wall, a double lumen may be formed, with Despite the advances for early diagnosis the consequent passage of blood, which is and the innovations in surgical management, called aortic dissection. type A aortic dissection of the ascending aor- Acute thoracic aortic dissection is the ta has a high morbidity and mortality both in result of a tear in the wall of the aorta that the short term and in the long term: at the allows blood flow between its layers separat- hospital level, it ranges between 15% and ing them, which leads to the appearance of a 35%, with a 5-year survival rate in 65-75% double light within the same vessel, causing of cases. the blood flow through a false light to exert an Type B dissections involve the aorta pos- occlusive effect on the light itself and condi- terior to the left subclavian artery, with no com- tion the flow to the vessels that derive directly promise of the ascending aorta. Usually, its from the aorta. The importance of early diag- management is not urgent, although it is equally ascending aortic disease in a patient with marfan syndrome

important since relevant organs may also be af- revealed systolic and diastolic murmur and 101 fected, in which case other therapeutic options mitral systolic murmur. should be analyzed. Complementary diagnostic exams CASE PRESENTATION 1. Chest x-ray: cardiomegaly, mediastinal wid- 26-year-old male, mestizo, single patient ening at the expense of ascending aorta from Guayaquil (Ecuador), with a basic (Figure 1a). level of education, a history of Marfan syn- 2. Electrocardiogram: sinus tachycardia, left drome and hypertension in treatment, who ventricular hypertrophy with signs of dia- attended consultation reporting a clinical stolic overload. picture of 48 hours of evolution character- 3. Echocardiogram: significant aortic valve ized by intense lancinating retrosternal pain regurgitation with severe dilatation of the and medium effort dyspnea that evolved valve ring. to orthopnea. The vital signs on admission 4. Computed tomography angiogram of the obtained after physical examination were: chest: aortic root of 90.2 mm, ascending aorta BP: 120/50 mmHg, HR: 108/min, RR: 22/ of 80.8 mm, double lumen observed at aortic min, oxygen saturation: 95%, temperature: root level correlating with aortic dissection (inti- 35.4°C, and height: 180 cm. He presented mal flap) with visible leakage of contrast mate- with disproportionate upper limbs in relation rial towards false lumen. Normal mitral, tricus- to thoracoabdominal structure, pale skin, pid and pulmonary valves; insufficient tricuspid aranodactyly, perioral cyanosis, and piriform aortic valve and increased pulmonary systolic thorax with sternal depression. Auscultation pressure (60 mmHg) (Figures 1b and 2).

Fig 1A. Posteroanterior chest radiograph. Grade 4 cardiomegaly and mediastinal widening at the expense of ascending aorta. Fig 1B. Computed tomography angiography: sagittal section. Aortic root of 90.2 mm, ascending aorta of 80.8 mm, insufficient tricuspid aortic valve and increased pulmonary systolic pressure (60 mmHg). Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 98-106

102

Fig 2A. 3D reconstruction of computed tomography angiography of the chest. Dilation of the ascending aorta. Aortic root 90.2 mm, anteroposterior diameter of ascending aorta of 80.8 mm. Fig 2B. Arrow. Intimal flap. Source: Own elaboration based on the data obtained in the study.

Evolution Surgical procedure

One of the most important aspects is the length Once the patient was under general anesthesia of hospital stay, since this is directly related to and strict asepsis, proximal and distal control of morbidity and mortality. In this case, approxi- the right axillary artery was performed by can- mately 48 hours passed between the comple- nulation for extracorporeal circulation (ECC), tion of the complementary examinations, the followed by medial stereotomy, exposing the confirmation of Stanford type A ascending aortic pericardial sac through an inverted T incision, dissection as definitive diagnosis, and the deci- which exposed the ascending aortic aneurysm sion to start surgical treatment through Bentall from the aortic annulus, with a diameter greater and De Bono surgery, which represented an in- than 100 mm that deformed the base of the crease of about 29% in the mortality rate. heart and extended to the distal third of the as- The clinical management of the patient cending aorta. Cardiomegaly IV/IV was found was holistic, and one of the parameters active- in both right and left cavities, along with global ly treated was blood pressure through carve- dilation of the ventricles and intraoperative pul- dilol 6.25 mg VOc/12h, which kept the values monary artery pressure over 60 mmHg accord- within normality ranges. ing to Swan-Ganz catheter measurements. ascending aortic disease in a patient with marfan syndrome

The extracorporeal circulation entrance tured with suture dehiscence, which caused an 103 was then isolated by aortic clamping and the acute intraoperative myocardial infarction. dissected aortic wall was opened longitudi- Upon removing ECC, acute right ven- nally, which allowed to identify false and true tricular distension and sustained ventricular lumen. Then, through a partial resection of the fibrillation were observed, which required de- dissection focus, the distal end of the aorta was fibrillation (20-30 joules) together with antiar- verified and the false lumen was sealed with rhythmic therapy. Finally, arrhythmia was con- BioGlue 1. Resection of the tricuspid aortic trolled. The patient presented three episodes valve was continued, isolating left and right cor- of ventricular fibrillation which responded to onary buttons and implanting a valved tube sj # electrical cardioversion. 27. Once the normal function of the prosthetic ECC removal was attempted on three oc- discs was confirmed, the left and right coronary casions, but low expenditure was observed button reimplant was placed and its permea- despite maximum inotropic support, then the bility was checked. Immediately, distal anasto- patient suffered refractory ventricular fibrilla- mosis was performed from the valved tube to tion and later asystole despite an epicardial the distal ascending aorta. Finally, a prosthetic pacemaker and died. The aortic clamping neo-ostium venous bypass implant was placed time was 150min and ECC time, 305 min since the right coronary button was unstruc- (Figures 3, 4 and 5).

Fig 3. Surgery. Exposure by median sternotomy. Fig 4. Exposure of the aortic ring with appropriate fixation A. Pericardial sac. B. Aneurysmal ascending aorta. points for subsequent placement of prosthetic material. Source: Own elaboration based on the data obtained in the study. Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 98-106

104

Fig 5A Exposure of the aortic ring with the appropriate fixation points after prosthesis placement. Fig 5b. Replacement of the aortic root using composite prosthesis and Bentall coronary reconstruction. a: extracorporeal circulation system. b: aortic ring with corresponding fixation points. c: prosthetic material. Source: Own elaboration based on the data obtained in the study.

DISCUSSION complications observed in the patients who suffer from this condition are closely related to The Marfan syndrome is an autosomal domi- the diameter of the aorta, its growth rate and nant pathology with a relatively low frequen- the time of evolution. In vessels with a diame- cy, which tends to cardiovascular complica- ter greater than 5 cm, the risk of rupture and tions in most cases. The evolution of Marfan dissection increases by up to 45% (4). The syndrome leads to an aneurysmal dilation of symptomatology is variable and depends on the aorta, which may be added to a rupture the type of aneurysm, as well as on its location of its wall with the subsequent development and relationship with neighboring structures. of aortic dissection. In this case, a type A dis- An aortic aneurysm can cause fatigue, hoarse section was diagnosed based on the Stan- or strained voice and pain in the left shoulder. ford classification, the most frequently used If it is accompanied by aortic dissection, it can nowadays, or DeBakey type II (3). cause intense lancinating pain in the anterior The ascending aortic aneurysms have a chest, which usually radiates towards the back relatively low prevalence, as well as an import- in the interscapular region. ant variability that can be accompanied by an Aortic dissection is characterized by the aortic dissection or rupture of the aorta, in- creation of a false lumen in the middle layer creasing its mortality rate to almost 100%. The of the aortic wall. It is classified according to ascending aortic disease in a patient with marfan syndrome

the presence and location of the first tears, as 60% to 75% of the patients who undergo a 105 well as the retrograde or anterograde exten- dissection of the ascending aorta (10). sion of the dissection (5). Due to its comorbidity rates and its degree If coronary vessels are compromised since of evolution, Bentall procedure is the most fa- birth, associated acute coronary syndrome vorable choice for this type of patients. In this symptoms are added, which constitutes an case, the procedure consisted in performing emergency and modifies both the manage- a prosthetic replacement that compensated ment and the necessary times. aortic valve deficiency as a result of the large Opting for surgical treatment depends dilatation of the aortic annulus and subse- on several factors and choice is based on the quent replacement of the damaged aortic wall. anatomical conditions of the aorta, the under- Finally, the aortic buttons were reimplanted to lying disease, the risk of anticoagulation, the the prosthesis. age of the patient, the presence of an active However, there are other surgical op- infection, among others. Several surgical tech- tions. For example, David’s technique, devel- niques have been developed that reflect the oped by the Canadian surgeon Tirone David evolution in the management of the ascending in 1992, achieves a greater stabilization of aortic aneurysms; each has its own advantag- all the components of the root of the aorta, es, limitations and risks. The replacement of which requires the proper function of the the aortic root and the ascending aorta with aortic valve (6). In this case, the patient had valved tubular grafts, known as the Bentall a large dilatation of the aortic annulus that procedure, along with annuloaortic ectasia is made this procedure difficult to use. the most appropriate choice of the treatment It is important to consider the need for for this condition. (6). developing new therapeutic options for this The literature reports that the Bentall pro- type of patients in order to improve their sur- cedure has a low morbidity and a mortality of vival rates and quality of life. 13%, being septic shock and ventricular fibrillation the most common causes of death (7). CONCLUSION These figures vary considerably depending on the moment when surgery is performed: The case reported here demonstrates that if surgery is scheduled, mortality rates range the treatment of patients with Marfan syn- between 1.7% and 17.1%, but if surgery is drome should be done from a multidisci- the consequence of an emergency, the values plinary and joint approach, where timely diag- increase to between 23% and 50% (7). The nosis together with follow-up by specialized survival rate at 5 years ranges between 73 and services and a qualified team allow a timely 92%, while survival at 10 years is between 60 action and, thus, avoid that the patients with and 73% (8). However, surgical mortality can this condition look for care when it is already vary greatly depending on the hospital cen- at a late stage. ter, the experience of the medical team, the available resources and the heterogeneity of FUNDING the patients (9). It is worth noting that dissection distal to the operated segment persists in None stated by the authors. Case reports Vol. 3 No. 2: 98-106

106 INFORMED CONSENT from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007;116(11 The authors met the regulations on of ano- Suppl):I150-6. nymity of the case study. 6. David TE, Feindel CM. An aortic valve sparing operation for patients with aortic valve incompe- CONFLICT OF INTEREST tence and aneurysm of the ascending aorta. J Thorac Cardiovasc Surg. 1992;103(4):617-21; None stated by the authors. discussion 622. 7. Galicia-Tornell MM, Marín-Solís B, Fuen- REFERENCES tes-Orozco C, Martínez-Marínez M, Vi- llalpando-Mendoza E, Ramírez-Orozco F. 1. Kumar V, Cotran RS, Robbins S. Robbins: Procedimiento de Bentall en la enfermedad aneu- Patología Estructural y Funcional. 6ª ed. Madrid: rismática de la aorta ascendente: mortalidad hos- McGraw-Hill, Interamericana de España; 2000. pitalaria. Cir Ciruj. 2010;78:45-51 2. McKusick VA. Mendelian inheritance in man. 6ª 8. Martínez-Hernández H. Los aneurismas de ed. Baltimore: Johns Hopkins; 1983. la aorta torácica y su enfoque terapéutico. Arch 3. Nienaber C, Rehders TC, Ince H. Interventio- Cardiol Mex. 2006;76(suppl 2):S124-33. nal strategies for treatment of aortic dissection. J 9. Gutiérrez J, Camblor S, Llaneza C, Menén- Cardiovasc Surg. 2006;47(5):487-96. dez P, Menéndez H, Carreño M, et al. Histo- 4. Trainini JC. Consenso de patología de la aorta. ria natural de los aneurismas de la aorta torácica. Rev Argent Cardiol. 2004;72:387-400. Angiología 2006;58(suppl 1):S3-14. 5. Tsai T, Isselbacher EM, Trimarchi S, Bosso- 10. Szeto WY, Gleason TG. Operative manage- ne E, Pape L, Januzzi JL et al. Acute type B ment of ascending aortic dissections. Semin aortic dissection: does aortic arch involvement Thorac Cardiovasc Surg. 2005;17(3):247-55. affect management and outcomes?. Insights doi: http://doi.org/djvf37. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.62088 Apendicular cystic dilatation. Case report

Palabras clave: Apendicitis; Mucocele; Neoplasias del apéndice. Keywords: Appendicitis; Mucocele; Appendix neoplasms.

Irlanda Moyota, MD • Lúver Macías, MD Raúl León, MD • David Yépez, MD Hospital Luis Vernaza Department of General Surgery Guayaquil – Ecuador

Corresponding author: Irlanda Moyota Paguay. Loja No. 700 y Escobedo, Postal code EC090103. Guayaquil, Ecuador. Email: [email protected]

Received: 19/1/2017 Accepted: 15/10/2017 Case reports Vol. 3 No. 2: 107-13

108 RESUMEN tratamiento quirúrgico precoz, con el objetivo de evitar complicaciones tales como obstruc- Introducción. El mucocele es una dilata- ción intestinal, hemorragia o pseudomixoma ción del apéndice vermiforme que se carac- peritoneal. teriza por su contenido mucoide viscoso. La incidencia de esta entidad es baja —entre ABSTRACT el 0.2-0.3% y el 0.7% del total de las apen- dicectomías— por lo que se considera un Introduction. Mucocele is a dilatation of the caso raro, el cual afecta más a mujeres que a vermiform appendix characterized by viscous hombres, con una relación 4:1. Con frecuen- mucoid material secretion. Its incidence is cia, el diagnóstico es incidental y su manejo low —0.2-0.3% to 0.7% of the total of the es quirúrgico. appendectomies—, therefore, it is considered as a rare entity, which affects mainly Caso clínico. Paciente de 69 años de edad, women with a ratio of 4:1. Diagnosis is often de sexo masculino, que acude a emergen- incidental, and its management is surgical cias debido a un cuadro clínico de dolor ab- based on histology. dominal de 5 días de evolución en la fosa iliaca derecha. El dolor se acompaña de Clinical case. 69-year-old male patient anorexia, náuseas y alza térmica no cuan- who presented with abdominal pain of 5 tificada. El examen físico revela signos de days of evolution in the right iliac fossa, ac- Mc Burney y Blumberg positivos e irritación companied by anorexia, nausea and unquan- peritoneal, por lo que se realiza apendicec- tified fever. Physical examination revealed tomía más rafia de base apendicular. Entre positive Mc Burney’s and Blumberg’s signs, los hallazgos intraoperatorios se observó tu- indicating peritonism. Appendectomy and moración apendicular con base ancha y de appendiceal raffia were performed using the paredes gruesas, y contenido mucoide. El Parker-Kerr technique. Intraoperative find- estudio histopatológico mostró una estruc- ings included an appendicular tumor with a tura de apéndice cecal con necrosis coagu- thick base and mucoid content. The histo- lativa en mucosa y pared, así como mucosa pathological study showed a cecal appendix con depósito focal de material mucoide. El structure with coagulative necrosis of the paciente fue dado de alta a los 8 días sin mucosa and the wall, as well as mucosa with complicaciones. focal deposit of mucoid material. The patient was discharged after 8 days without further Conclusión: No existen estudios específi- complications. cos que lleven a predecir el mucocele apendicular, ni estudios que alerten sobre la futu- Conclusion: Studies on appendicular mu- ra aparición del mismo; no obstante, conocer cocele are scarce, and due to its complica- sus características es útil para sospecharlo tions, radiological controls at a shorter time en casos con cuadros similares. interval, and even early surgical treatment, Debido a sus complicaciones, es nece- are necessary to avoid complications such as sario considerar controles radiológicos con intestinal obstruction, peritoneal bleeding or un menor intervalo de tiempo e, incluso, un pseudomyxoma. apendicular cystic dilatation

INTRODUCTION useful for diagnosis, are barium enema and 109 colonoscopy (6,7). Carl Freiherr von Rokitansky, Austrian anato- The treatment indicated for appendiceal mo-pathologist, first described appendice- mucocele is the surgical removal of the ap- al mucocele in 1842 (1). It is defined as a pendix, even if the affected mucocele com- cystic dilatation of the vermiform appendix, promises the terminal ileum or the cecum. whose causes include benign and/or ma- Cystadenocarcinoma cases with mesenter- lignant processes. It has a low incidence ic involvement or an adjacent organ require estimated at around 0.3% of appendecto- hemicolectomy (8). mies (2,3). From a histological perspective, The objective of this work is to report a it can be classified into four types: simple case of this rare pathology, discuss its partic- mucocele (accumulation of mucus in the ap- ular characteristics and present a brief litera- pendicular cavity with obstruction), focal or ture review. diffuse hyperplasia of the mucosa, mucinous cystadenoma, and mucinous cystadenocar- CLINICAL CASE cinoma; when a spontaneous perforation of the appendix occurs, pseudomyxoma peri- 69-year-old mestizo, male patient, without a tonei can be observed (4). relevant medical history, who attended the The clinical picture is not necessarily emergency room with a clinical picture of 5 characteristic, since it can be asymptomat- days of evolution characterized by colicky ic and, in some cases, it is incidentally dis- abdominal pain of slight intensity, which pro- covered through radiological-endoscopic gressed to moderate, at the right iliac fossa studies or during surgical procedures. Half level. The pain was accompanied by nausea, of the cases present pain in the right iliac malaise and unquantified fever. fossa (5). This can be a benign or malignant The patient reported that he was unable process, so each case must be individual- to pass flatus and was constipated, which ized to know its nature. Complications are led him to self-medicate with oral analge- rare and include intestinal obstruction or di- sics. After realizing that the picture did not gestive bleeding, being peritoneal pseudo- improve, he decided to visit the emergency myxoma the most severe form, which occurs room of the Luis Vernaza Hospital. Physi- when mucinous material disseminates in the cal examination showed the following vi- peritoneum. tal signs: blood pressure 140/80 mmHg, The preoperative diagnosis is essential heart rate 103 bpm, SpO2 98%, tempera- for planning the surgery and includes imag- ture 37.5ºC, conscious state, orientation in ing techniques such as ultrasound and con- space, time, and person, afebrile and semi- trasted tomography (CT) of the abdomen and moist mucous membranes. The abdomen pelvis, which allow a better characterization was soft, depressible, and painful in the of the tumor. An ultrasound can confirm the right iliac fossa, with positive McBurney’s cystic aspect, while abdominal and pelvic CT point and Blumberg’s sign. The results scan with contrast defines the wall, the pres- of the laboratory tests were: leukocytes ence of calcifications and the density of the 10,440/ul, segmented of 76.1%, and CRP: content. Other tests available, although less 249.97 mg /L. Case reports Vol. 3 No. 2: 107-13

110 An abdominal ultrasonography was per- diceal tumors with a wide base of thick walls formed, which showed a dilatation of the ce- and mucoid content. The samples taken were cal appendix of 93.9mm x 35.9mm, thicken- sent to pathology (Figure 2). ing of the wall and laminar fluid in the right The macroscopic study revealed a cecal iliac fossa (Figure 1). appendix of 8x6x5cm, appendiceal space An exploratory laparotomy was decided reaching 4.5cm in diameter, and serous surface with conventional appendectomy plus raffia completely occupied by a whitish plate with fi- with appendicular base, similar to the Park- brinous appearance. The parietal bone thick- er-Kerr technique. Findings included appen- ness ranged between 0.2 and 1 cm (Figure 3).

Figure 1. Abdominal ultrasound: dilatation of the cecal appendix (circle). Source: Own elaboration based on the data obtained in the study.

Figure 2. Sample of dilated cecal appendix compatible with mucocele. Source: Own elaboration based on the data obtained in the study. apendicular cystic dilatation

111

Figure 3. Macroscopic piece Source: Own elaboration based on the data obtained in the study.

The histopathological study showed a ce- and does not correspond to a defined clinical appendix with coagulative necrosis in the cal-pathological entity. mucosa and the wall, mucous membrane with Appendiceal mucocele is a rare pathol- focal mucoid deposit that did not invade the ogy, found in 0.2% to 0.3% of appendecto- parietal thickness, fibrinonecrotic and hemor- mies, which corresponds to 8% of the total rhagic exudate that extended to serosa and appendiceal tumors, with a higher incidence periapendicular mesentery, and multiple mi- in women (ratio 4: 1) and average age of pre- croabscesses. The final diagnosis was acute sentation of 55 years (9,10). gangrenous appendicitis and appendiceal This report describes the case of 69-year- mucocele. Finally, the patient was discharged old male patient, that is, in the seventh de- after 8 days, without further complications. cade of life, which coincides with the literature. The pathology report revealed simple DISCUSSION mucocele, which is found in 20% of cases (11). The histopathological result described Appendiceal mucocele is a cystic dilatation acute gangrenous appendicitis and acute fi- of the appendiceal lumen with accumulation brinopurulent periappendicitis, appendiceal of mucus. It is caused by an obstruction of mucocele and omentum without histopatho- the appendix due to the excessive accumula- logical alterations. tion of mucus with abnormal dilatation. How- The form of presentation is non-specific ever, the term mucocele does not describe and incidentally appears in 25% of cases. the potential aggressiveness or biological The most frequent symptoms include abdom- behavior and, therefore, is a descriptive term inal pain (27%), palpable abdominal mass that does not have a diagnostic character (50%), weight loss (13%), nausea or vomiting Case reports Vol. 3 No. 2: 107-13

112 (9%), and less frequently, dysuria, hematuria The patient was finally discharged at 8 days or complications such as perforation (12), without further complications. bleeding, intussusception or torsion (13). The final result was mucocele without This patient presented a picture similar to histopathological alteration of the omentum. acute appendicitis with pain in the right iliac Based on this finding, periodic check-ups by fossa, anorexia, nausea, and positive Mc Bur- external consultation were indicated without ney’ point and Blumberg’s sign, which led to the need to perform any other surgical pro- a differential diagnosis of acute appendicitis, cedure until now. which is very frequent. Laboratory tests may be useful to de- CONCLUSION termine an infectious disease, but not to suspect mucocele. For this reason, it is ad- Mucocele has a low incidence of 0.2-0.3% visable to perform imaging tests, including among the total of appendectomies. The ultrasounds, which, in this case, served to treatment is surgical due to the potential observe an elongated and tubular structure risk of malignant transformation and to pre- (also known as chicken drumstick) compati- vent other complications such as rupture and ble with the appendix, with a diameter great- dissemination. It is important to consider the er than 1.5cm, a thin wall and calcifications diagnosis prior to surgery and to perform a (14). Nuclear magnetic resonance (NMR) is careful resection, either by laparoscopy or also useful for studying this picture. In this laparotomy. case, ultrasound showed a dilated tubular image, with a diameter of 35mm, which led to CONTRIBUTION OF THE AUTHORS suspect appendiceal mucocele, although the result was not conclusive. The author and co-authors participated The treatment for this entity is surgical by throughout the process of preparation of this laparotomy or laparoscopy; the careful han- case report. dling of the piece is very important to avoid its rupture and consequent dissemination CONFLICTS OF INTEREST (pseudomyxoma peritonei). When only the appendix is affected without local or cecal in- None stated by the authors. vasion, it can be treated with appendectomy and mesoappendix excision, but if the cae- REFERENCES cum or an adjacent organ is involved, a right hemicolectomy should be performed (5). 1. Rokitansky Cvon, Swaine WE, Parry JS, Since the condition of the patient resem- Cullen TS. A manual of pathological anatomy. bled an acute abdomen of 5 days of evolution, Philadelphia: Blanchard & Lea; 1855. an exploratory laparotomy was performed, 2. Rappoport J, Steiner G, Moyano S, Amat V, in which a dilated tumor-like appendix was Bezama M. Mucocele apendicular. Rev. Chile- found, as well as necrosis in its lower third na de Cirugía. 2002;54(4):339-4. [cited 2017 and broad base, which led to suspect muco- Sep 14] Available from https://goo.gl/Y7kJ4N. cele. The caecum was in good condition, so a 3. Panqueba C, Poveda J, Tovar A. Cistoade- conventional appendectomy was performed. noma mucinoso apendicular. Revista Facultad apendicular cystic dilatation

113 de Salud. 2010. [cited 14 September 2017]. 10. Echenique-Elizondo M, Liron R, Amondarain Available from: https://goo.gl/WW8kVT. J, Aribe X, Arteaga X. Mucoceles apendiculares. 4. Premoli G, Pierini L, Ramos R, Minatti W, Cir Esp. 2007;82(5):297-300. [cited 14 Septem- Capellino P. El mucocele apendicular. Revis- ber 2017]. Available from: https://goo.gl/d1iYHk. ta del Hospital Privado de Comunidad. 2003; 11. Bittle M, Chew F. Radiological reasoning: re- 6(1):1-2. current right lower quadrant inflammatory mass. 5. Stocchi L, Wolff B, Larson D, Harrington Am J Roentgenol. 2005;185(3):188-94. [cited J. Surgical treatment of appendiceal mucoce- 14 September 2017]. Available from: https:// le. Archives of Surgery. 2003;138(6):585-90. goo.gl/GPEvdX. http://doi.org/cktrv2. 12. Dixit A, Robertson J, Mudan S, Akles C. 6. Ruiz-Tovar J, Teruel DG, Castiñeiras VM, Appendiceal mucocoeles and pseudomyxoma Dehesa AS, Quindós PL, Molina EM. peritonei. World J Gastroenterol. 2007;13(16): Mucocele of the appendix. World J Surg. 2381–84. http://doi.org/cc5c . 2007;31(3):542-8. http://doi.org/b3jjpw. 13. Dhage-Ivatury S, Sugarbaker P. Update 7. Madwed D, Mindelzun R, Jeffrey RB Jr. Mu- on the surgical approach to mucocele of the cocele of the appendix: Imaging findings. AJR appendix. J Am Coll Surg. 2006;202(4):680-4. Am J Roentgenol. 1992;159(1):69-72. http:// http://doi.org/ccmwtd. doi.org/cc49. 14. Hernandez-Munoz L, Soliva-Martínez D, 8. Isaacs K, Warshauer DM. Mucocele of the Martínez-Fernández T, Blanco-López ME, appendix: computed tomographic, endoscopic, Pérez-Gil MA, Razquin-Murillo J. El apén- and pathologic correlation. Am J Gastroenterol. dice vermiforme: Caracterización con pruebas 1992;87(6):787-9. de imagen del mucocele apendicular. SERAM. 9. Khan SL, Novell JR. An unusual pelvic mass. J 2012. [cited 2017 Sep 14]. Available from: R Soc Med. 2001;94(7): 353–4. https://goo.gl/eEHK6H. Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.62754 delusional infestation. eKbom’s syndrome in a 53-year old woman. Case report

Keywords: Case Report; Delusional parasitosis; Ekbom delusory parasitosis; Delusory parasitosis. Palabras clave: Reporte de caso; Delirio de parasitosis; Delirio de parasitosis de Ekbom.

Mario Javier Olivera MD Instituto Nacional de Salud Parasitology Department Bogotá – Colombia

Hugo Paez Ardila MD Eliana Maldonado Lara MD Universidad del Rosario Infectology Department Bogotá – Colombia

Julián Felipe Porras Villamil MD Gabriela Andrea López Moreno MD Christian Camilo Toquica Gahona MD Medical Doctor Universidad Nacional de Colombia Faculty of Medicine Medical School Bogotá – Colombia

Corresponding author: Mario Javier Olivera. Instituto Nacional de Salud. Avenida calle 26 No. 51-20 – Zona 6 CAN. Bogotá, D.C. – Colombia Email: [email protected]

Received: 17/2/2017 Accepted: 19/9/2017 delusional infestation. ekbom’s syndrome in a woman

ABSTRACT Conclusion: This case is important as it 115 shows the hardships of treatment, adequate Introduction: Delusional infestation is a rare follow-up and care, as well as the need to psychiatric disorder defined as a condition in improve how these patients are approached. which the patient has the unshakable belief Additionally, both classical and uncommon and perception of being infested with para- signs and symptoms could be observed as the sites. Its treatment is difficult, and frequently patient stated that her relatives were affected includes antipsychotic medications (such as (possible delusional infestation by proxy). olanzapine or aripiprazole). Non-pharmacological treatment, particularly psychotherapy, Case description can be used for less severe cases. Dermatol- ogists and psychiatrists must take a multi-dis- Delusional parasitosis (DP), delusional infes- ciplinary approach (preferably in a psycoder- tation (DI) or Ekbom’s syndrome is an uncom- matology dedicated clinic) since this type of mon but not rare (1-3) psychiatric disorder in patients sometimes refuse treatment. which patients have a fixed, false belief that they are infected or infested with parasites Case description: A 53-year-old female busi- or other living organisms (4-6). This condi- nesswoman describes a clinical history of five tion may lead to self-mutilation (5) or affect years of visual hallucinations, depressive symp- other members of the family (7). It was first toms, and generalized pruritus, along with the described more than a hundred years ago use of toxic substances to “clean” her skin and (8), and is classified as a persistent delusion- cloths. She reports similar symptoms in some al disorder in ICD-10 (9) or as a delusional relatives but they were not evaluated. Blood disorder of the somatic type in DSM-V (10), tests and analyses of the “specimen” brought although much is left to understand about by the patient were performed, yielding neg- this disease. The prevalence is estimated ative results. The patient had never been as- between 0.18 and 4.2 per 100,000 (11,12), sessed by any specialist, and showed disori- with an incidence of 1.9 per 100,000 (12). ented during the consultation. Follow-up was However, its variation is wide: in the United not possible due to the reluctance of the patient Kingdom, the estimated incidence is about to follow the indications and seek psychiatric 4.9 per million (11). treatment. Moreover, the patient did not re- Delusional infestation by proxy is esti- spond to further communication attempts. mated in approximately 5-15% of the cases (7, 13). Its onset has been associated with Discussion: Delusional infestation is an un- changes in the glucose metabolism of the common disease that endangers the patients thalamus and the left putamen, and with alter- and the people around them. Its treatment is ations in the dopaminergic neurotransmission difficult and long, and not conducting proper of the striatum, again in the left putamen (14). follow-up is a great risk. Its prevalence and There is also evidence of abnormal frontolim- incidence is variable and generally unknown. bic brain activity (15) and abnormal grey and It can affect the patient, their next of kin, pets white matter volume (16,17). or the environment, and the “pathogen” can It generally affects women over 50 (30- be a living organism or an inanimate object. 60) years of age (6, 18), with a mean age of Case reports Vol. 3 No. 2: 114-25

116 onset at 56.9 years (19). It can be classified them (88%) (6,36,37). Considering that the as primary or secondary; the primary form delusion of being infected can vary in inten- of the disease does not present an organ- sity (38), in less severe cases the belief can ic or psychiatric underlying cause (Table 1) be wavered but not reduced (39). Some of (6,20,21), and patients are otherwise mental- the symptoms reported are listed in Table 2 ly healthy (6,22). A really uncommon form of (1,4,5,6,12,19,20,40,41). this disease is DI by proxy, which is a shared psychosis referred as folie à deux or folie à Table 2. Possible symptoms of delusional parasitosis trois, where patients believe that other indi- described by patients or relatives. viduals or pets are infested rather than them- Symptoms Symptoms described by selves (18,23,24). This presentation is more described by patients frequent in veterinary practice (18). relatives Pruritus Psychosis Table 1. Drugs or conditions associated with the Poor sleep Confusion onset of secondary delusional infestation. Tactile hallucinations Strange behavior Drugs or conditions References Self-mutilation or self-damage HIV (4) Visual hallucinations, and other types of hallucinations Neuropsychiatric drugs (25, 26) Delusional ideas Dialysis (20, 27) Dysphoria Neuropsychiatric diseases such (20, 28) as schizophrenia and depression Disturbed reasoning and judgement Stroke (20) Formication and other Psychotropic drugs (20, 29) sensations of movement under Dementia (20) the skin Renal disease (30) Intrusive and non- reducible Iatrogenic (31, 32) belief of infestation Occupational hazard for entomol- Proof of infestation (specimen (33) ogist and healthcare workers or matchbox sign) Use of toxic products topically Source: Own elaboration based on the data obtained in the study. or orally to “treat” the condition

The duration of the disease ranges from Source: Own elaboration based on the data obtained in the study. months to years (34). The most affected organ is the skin but other parts of the body can Atypical manifestations appear when the be affected as well (21,35). For its diagnosis, “pathogens” are relatively large, the environ- delusion must have a duration of at least 1 ment is infested rather than the individual, or month, but patients must remain highly func- the infestation is caused by inanimate objects tional (1) and present with two main symp- (3,6,42). The infesting species range from toms: 1) the strong belief of being infested unspecific living beings to microorganisms despite medical evidence shows otherwise and small animals. These specimens can be (100% of the patients), and 2) abnormal “stored” and handled without disgust (6,43), sensations as if an infectious agents caused and are treated as trophies instead; the spec- delusional infestation. ekbom’s syndrome in a woman

imen, however, should be examined (43). atypical anti-psychotics achieved a remission 117 This is known as the “Matchbox sign”, which proportion of 60-100%. In less severe cas- is characterized by the patient collecting an es, non-pharmacological treatment, such as inert substance (for example, dead skin) in a psychotherapy, can be used (50,52). Other container, stating that it contains living speci- non-pharmacological therapies include: neu- mens of the parasite in different stages of de- rosurgery, transcutaneous electric stimulation velopment (12). and electroconvulsive therapy (50), with a less The delusion can result in damage to the than optimal success rate (36,50). skin, hair, eyes and other family members, as Joint management by psychiatrists, psychol- they try to “clean” the infestation with dan- ogists and dermatologists is required (28,53- gerous substances or elements including fire 55), preferably in a clinic dedicated to psych- and electricity (6,44,45). This condition can odermatology (56,57). Adequate treatment be affected by a large array of complications leads to remission in 75% of the cases, although as listed in Table 3 (6,12,35). 25% of those patients may relapse and require longer therapy (58). Treatment should be intro- Table 3. Possible complications of delusional duced after obtaining a complete medical his- parasitosis tory and a systematic evaluation (54), specially Erosions to discard secondary causes or differential di- Excoriations agnosis (59-63) (Table 4). Offering antimicro- Ulcers bial or anti-parasitic drug trials reinforces the Lichenification delusional ideas and is not recommended (6). Chronic irritant contact dermatitis Lichen simplex chronicus Table 4. Differential diagnosis of delusional Prurigo nodularis parasitosis. Lichen amyloidosis Hypocondriasis circumscripta Corneal abrasions Dermatitis artefacta Secondary infections Skin picking disorder Increased mortality Chronic pruritus Morgellons disease Source: Own elaboration based on the data obtained in the study. Source: Own elaboration based on the data obtained in the study.

The recommended treatments are based Three groups of patients have been sug- on anti-psychotic medication such as risper- gested for classification purposes: 1) patients idone, pimozide (36,46), olanzapine, amilsu- with hypochondriac traits, 2) patients with pride, quetiapine and aripiprazole (47-50). paranoid symptoms and without hypochon- Atypical anti-psychotics have a more favorable driac apprehensions, and 3) patients with hy- side-effect profile (50). The therapeutic effect pochondriac and paranoid traits (64). Most may be observed between one to ten weeks patients have other associated psychological (47). Lepping et al. (51) assessed the effi- disorders including anxiety, depression and cacy of this drugs, reporting that typical and appearance-related concerns, among others Case reports Vol. 3 No. 2: 114-25

118 (37, 65). More information can be obtained in perception of macroscopic parasites that crawl the review made by Freudenman (6). over her body, biting her face, head and anteri- or thorax, and leaving white eggs which evolve CASE DESCRIPTION to brown adults in about eight days. She also referred generalized pruritus and shows exco- Female, 53 year-old, Hispanic businesswom- riations due to scratching (Figures 1 and 2), an who attends, by her own volition and alone, which she “treated” with Vicks Vaporub, dome- an outpatient medical appointment at the Par- boro (calcium acetate and aluminum sulphate), asitology Department of Instituto Nacional de crotamiton and Canesten (clotrimazole) cream. Salud (National Health Institute), referring a At some point, she also used thinner and var- clinical history of 5 years characterized by the sol to wash her clothes and skin.

Figure 1. A. Front of the patient. The lesions can be observed in the cheeks, arms, and chest. B. Profile of the patient portraying a close up of the cheek lesions. C. Back of the patient showing the extent of the lesions. Source: Own elaboration based on the data obtained in the study.

Figure 2. A. Profile of the patient showing the lesions on both cheeks B. Picture showing some of the multiple lesions on the scalp. Source: Own elaboration based on the data obtained in the study. delusional infestation. ekbom’s syndrome in a woman

The patient takes to the appointment, in cludes metformin 850mg/day, glibenclamide 119 a small plastic jar, pieces of skin and coagu- 5mg/day, ivermectine 51 drops (which she lated blood which she says contain the eggs has used in repeated doses since the onset and two adults (Figure 3). This specimen is of the disease), difenhidramine 50mg every handled without disgust or contempt. She 8 hours and, occasionally, amoxicillin 500mg also describes how one of her sons have every 12 hours; she denies using other med- seen the parasites fly after one of the eggs ications. Her gynecological background is hatched, while other members of the family G4P3C0V3. do not have parasites but suffer from pruritus. Physical examination revealed an arterial Unfortunately, the relatives were not present pressure of 100/60, heart rate of 84, respira- during the interview and refused to be inter- tory rate of 18, temperature at 35.5°, weight viewed or examined afterwards, so this may 51.3kg, height 145cm, multiple excoriations be another delusory idea of the patient. on the scalp and neck, and cicatrized lesions She denies travelling to other places in the in the inferior third of the face, chest and back. past five years. Medical background includes The patient had normo-reactive isocoria and diabetes mellitus diagnosed twelve years eye bags; the rest of the physical examination ago, and pharmacological background in- was normal.

Figure 3. A. Jar brought to the appointment by the patient. B. Close up of the jar contents. Source: Own elaboration based on the data obtained in the study.

Regarding mental aspects, the patient had speech was not slurred, and her behavior was a negative attitude, was passive, cried easily, organized and non-catatonic. Even though but had good visual contact with the inter- she was depressed, she did not show any viewer. She had a slight psychomotor retarda- signs of alogia or affective flattening, and the tion and a sad attitude, with anxiety traits. De- depressive symptoms started long after the lirious thoughts were present, as well as sad delusions. She did not hear voices. mood, with semi-structured suicidal ideations, Samples were taken, and cultures from non-existent introspection, uncertain prospec- feces and lesions were obtained, yielding tion, and good interpersonal relationships. Her negative results for microorganisms. Hemo- Case reports Vol. 3 No. 2: 114-25

120 gram was normal, tests for liver and renal that generally affects woman above 50 years function were normal, and glycemic control of age. Physicians must be cautious when was optimal. Toxicological exam was normal. approaching this kind of patients, consider- Complete studies of the skin and fecal matter ing the words used and even the proposed were made, yielding negative results as well. therapies, in order to generate a good pa- The specimens brought by the patient were tient-physician relationship and help patients analyzed providing a negative result. The pa- to understand the importance of treatment tient was examined for needle marks which with a psychiatrist. Not conducting prop- were absent. She did not present alterations er follow-up is dangerous; for instance, this in the rhinal mucosa nor respiratory or cardiac case is a prime example of that, since the pa- problems in the physical exam or medical tests. tient presented a typical primary delusional Due to the absence of criteria to diagnose infestation that not only affects her life and other psychiatric disorders or substance abuse self-esteem, but her family’s life as well. Here, or physical disease, the patient met the criteria the information provided by the patient al- of a delusional disorder of the somatic type (at lowed to infer (although it was not confirmed) least 1 month of delusions, visual hallucinations that some members of her family may suffer consistent with the disease, social function not from delusional infestation by proxy. This pre- markedly impaired, and brief mood episodes sentation is similar to other cases reported in compared to the delusional period), thus Ek- the literature (63). bom syndrome was diagnosed. The patient Treatment is difficult and must be carried did not accept psychiatric treatment, and nei- out based on an interdisciplinary approach. ther dermatology nor psychiatry services were One way of improving treatment is through able to assess the patient. Follow-up was not the use of psycodermathology, which is a possible due to the refusal of the patient to new subspecialty emerging from dermatolo- start psychiatric treatment, even when it was gy, and includes interventions such as psy- suggested and advised for her depression. choeducation and cognitive behavioral ther- Even though the patient did not accept apy or joint interviews with dermatologists treatment or referral, medical indications and and psychiatrists (66) that have proven to be recommendations were given. Prognosis is cost-effective (57). not optimal without pharmacological and der- Patients generally blame parasites, but matological follow-up or treatment, therefore, can also consider other small organisms or it is highly unlikely that the condition of the inanimate objects. This condition can affect patient will be resolved. the individual, someone or something close Written informed consent was obtained to the individual or the environment, and there from the patient for the publication of this are even cases of shared psychosis. case and the photographs. Usually, sick patients are not violent, but they can be a threat to themselves and oth- DISCUSSION ers since they may use dangerous substances during the “cleansing” process, and may even Ekbom’s syndrome, better referred as delu- mutilate themselves. This case, as other cases sional infestation, is an uncommon disease (37), shows the relationship between underly- delusional infestation. ekbom’s syndrome in a woman

ing psychiatric diseases and DI, and the long PATIENT’S PERSPECTIVE 121 process involved to diagnose this disease. Physicians must first discard and find evi- Follow-up was difficult, but during the few dence that the patient is not infested, looking interviews that could be conducted, she ex- for symptoms or signs of underlying psychiat- pressed that her situation was dire, that she ric disorders or the use of psychotropic drugs was desperate. Her mood had not improved or conditions associated with this disease as and the negative thoughts were worse over well. Considerations about pets or individual time. At first, her work nor her relationships victims of DI by proxy and their protection are were affected, but they were compromised outside the scope of this report. as the disease progressed, to such an extent Some of the most important aspects of that she was seeking advice from multiple this study include, first, initial assessment and physicians, but she thought that they did not referral, even though the patient did not follow believe her and never returned. the instructions, and second, the thorough clinical and physical examination alongside a TRANSPARENCY complete laboratory analysis done to the patient. Some of the limitations are that the pa- The authors declare that all the information tient was never assessed by a specialist, that contained in these pages is true, honest and the outcome of the case is unknown, and that transparent, that no important aspect of the the relatives could not be evaluated, there- case was omitted, and that every relevant char- fore, delusional infestation by proxy could not acteristics or differences have been exposed. be confirmed. FUNDING CONCLUSION None declared by the authors. This case clearly exposes the hardships of treating this type of psychiatric patients, as well CONFLICT OF INTERESTS as the difficulties for adequate follow-up and care. A better way of following and delivering None declared by the authors. care to these patients could possibly include domiciliary visits or clinics dedicated to psyco- REFERENCES dermatology. However, this case is important since it shows both classical and uncommon 1. Laupland KB, Valiquette L. Delusional Infestation. signs and symptoms, that the disease can Can J Infect Dis Med Microbiol. 2016;2016:1-4. affect patients and possibly their relatives as http://doi.org/cdnm they can also suffer from similar symptoms 2. Bewley AP, Lepping P, Freudenmann RW, Taylor (delusional infestation by proxy), and that they R. Delusional parasitosis: time to call it delusio- should also be included in the treatment. A nal infestation. Br J Dermatol. 2010;163(1):1-2. comprehensive approach to the family and its http://doi.org/b9zvvf involvement should be considered when ap- 3. Freudenmann RW, Lepping P, Huber M, Diec- proaching this type of patients. kmann S, Bauer-Dubau K, Ignatius R, et al. Case reports Vol. 3 No. 2: 114-25

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