Cent. Eur. J. Med. • 6(6) • 2011 • 723-726 DOI: 10.2478/s11536-011-0091-4

Central European Journal of Medicine

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

Case Report Ivona Djordjevic1*, Danica Jovanovic2, Blagoje Grujic2

1 Clinic for Pediatric Surgery and Orthopedics, 18000 Nis, Serbia and Montenegro

2 Institute for mother and child “Vukan Cupic”, 11000, New Belgrade, Serbia and Montenegro

Received 4 September 2010; Accepted 24 July 2011

Abstract: CurrarinosyndromewasfirstdescribedasatriadbyGuidoCurrarino,anAmericanradiologistin1981.Itisanautosomaldominant hereditarydiseaseknownbythetriadofanorectalstenosis,anteriorsacraldefect,andapresacralmassthatismostoftenananterior sacralmeningocele. Werepresenta3yearboywithrefractoryconstipationfrombirth,whichhadbeenwronglydiagnosedandtreatedasHirschsprung’s diseasesinceearlychildhood.Thepatientunderwenturgentcolostomybecauseofwaterintoxicationduetobowelirrigation,and followinginvestigations(CT,MRI)revealedanorectalanomalyandpresacralmasscompatiblewithCurarrino’ssyndrome. Definitiveoperationwasdonewithperinealapproach,posteriorsagittalanorectoplasty,withintervalcolostomyclosure2months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normalsoonaftertheoperation.Amultidisciplinarydiagnosticandtherapeuticprotocolispresented.Mainpointsarerectalexamina- tion,x-Ray,moleculargeneticdiagnosis,radiologicevaluationofeverymemberofCurrarinosyndromefamilies,CTscan, magneticresonance(MR)evaluationofpatientspineandandsuctionrectalbiopsies.Ifthemassisameningocele,colostomy andneurosurgicalexplorationshouldprecedeanoplastyduetotheriskofmeningitis. Keywords: Currarino’s triad • Constipation • Anterior meningocela

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1. Introduction Patients may remain asymptomatic for a long period of time, until the presacral mass achieves a large size. Currarino’s syndrome was first described as a triad by Consecutively, compressive mass effect can lead to in- Guido Currarino, in 1981 [1], as a malformation caused itial symptoms: intractable constipation, rectal fullness, by defect of the caudal notochord. It is autosomal do- urinary tract infections followed with disuria, low back minant hereditary disease characterized by distinctive pain and recurrent meningitis [6]. In the initial phase triad of symptoms consisting of anterior sacral defect of the disease, clinical symptoms may erroneously be (hemisacrum), anorectal malformation and presacral interpreted like disturbance in the function of gastroin- mass (anterior sacral meningocele (47%), benign te- testinal tract. ratoma (35%), lipoma, enteric cyst or combination of these). Anorectal malformations (anal stenosis, mega- colon congenitum, imperforated anus, ectopic anus) 2. Case report have been found in association with sacral anomalies in about 29% of cases. In this report we represent a young patient with Currarino’s syndrome is caused by a single gene Currarino’s syndrome, which was initially misdiagnosed (HLXB9) [2-5] located at position 7q36 with the in- and treated as megacolon congenitum (Hirschsprung complete and variable penetrance and expressivity. disease) in another institution. A three year old boy with

* E-mail: [email protected] 723 Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum.

chronic constipation from the birth was admitted in our working diagnoses was Hirschsprung disease, altho- clinic. The boy had longstanding constipations, and ir- ugh sacral bone deformity (shape of the scimitar) was regular bowel emptying. Since birth he was treated with seen radiologically (Figure 1). Proctology examination laxatives and water irrigations without improvement confirmed ventrally located anus and empty anal canal. of defecation function. After the first examinations the Neurology examination test were normal. Patient had no paralysis in the lower extremities. A barium contrast study planned before referral could not be performed because of severe anal stenosis, and rectal biopsy was not performed for pathologic confirmation of the dise- ase due to his parents’ refusal. Anorectal manometry was already done in the department of gastroenterolo- gy (where the patient was initially hospitalized), and the test was normal. Therapy started with water irrigations.

Figure 1. Plain radiograph of the sacrum demonstrating sacral agenesis with absence of third, fourth and, fifth segments on the left side (shape of the scimitar) Figure 3. Sagittal MRI images demonstrating anterior sacral meningocoelae.

Figure 2. Distal colostogram. Barium enema study. Severe anorec- tal stricture suggested the presacral mass. Space between and sacrum is increased Figure 4. MRI demonstrating presacral mass, 8 cm in diameter.

724 I. Milorad Djordjevic et al.

Anal canal was extremely stenotic, so colon was extre- Although Currarino’s syndrome is very rare (1:7500- mely dilated. Large water volumes that have been given 10000) the number of patients with this syndrome in order to dilute the stools were trapped in the gut. has been underestimated so far. Family history of the During a few days with water irrigations, the boy’s con- disease with variant presentation have been reported dition rapidly changed, so he soon became prostrated. in about 60% of cases [8,9]. Water intoxication syndrome was diagnosed. Urgent In 1981, Currarino gave the hypothesis about the laparotomy was done, creating the diverting colostomy. embryological aspect of thesyndrome. It is the result After two months barium contrast study (distal colosto- of malformation in caudal notocord. During early fetal gram) was done, demonstrating severe anorectal stric- growth and development, fistula between bowel and ture that suggested presacral mass. Space between spinal channel is formed, as the result of abnormal rectum and sacrum was increased (Figure 2). CT scan endoectodermal adhesions and notochord defects. If and MRI (Figure 3 and 4) were performed in order to the fistula absorbs partially, it will form anterior sacral confirm the definitive diagnosis: rectal stenosis caused meningocele or a retrorectal enteric cyst [1]. by large presacral tumor (8 cm in diameter), which Currarino’s syndrome accounts for an uncommon communicated with the subarachnoid space, and sug- cause of prolonged constipation that may be the only gested anterior sacral meningocele.Sacral bone defect presentation in many patients. Although the triad of followed. This triad suggested Currarino’s syndrome, symptoms were described by Kennedy in 1926 [7], to although there were no relatives with this syndrome, date only 200 cases were described in the literature, and no family pedigree. First, radically surgery excision so the Currarino’s syndrome is rarely mentioned in the of the presacral mass was undertaken, to avoid menin- surgical community. Pathogenetic cause of defecation gitis. Histopathologic examination confirmed diagnosis disorder can be caused by anteposition of the anus, of meningocele (Figure 5). Definitive operation was compression of spinal nerve roots, or compressive done with perineal approach, posterior sagittal anorec- presacral mass effect [10,11]. toplasty (PSARP). Interval colostomy closure was done We recommend anorectal examination, pelvic two months after PSARP operation. An uncomplicated ultrasound and pelvic x-rays in all patients with a hi- postoperative recovery ensued. The patient’s bowel story of chronic constipation since early childhood. In habits successfully returned to normal soon after the suspected cases, further investigations such as barium operation. There was no need for further treatment. enema, CT scan, neurological examination, anorectal manometry, MRI, myelography and suction rectal biopsies are imperative, as well as family screening. 3. Discussion Rectal biopsies should be standard procedure, altho- ugh in 50% megacolon congenitum can be associated Currarino’s syndrome is an autosomal dominant heredi- anomaly. [12] Multidisciplinary surgical team work is tary disorder linked to the 7q36 locus [2]. required to ensure adequate surgical treatment. The syndrome is the triad of anorectal stenosis, an- Early diagnosis and surgical excision of a presacral terior sacral defect, and a presacral mass that is most mass is advised to prevent future morbidity and morta- often an anterior sacral meningocele (47%) or lity. The most frequent complication is local recurrence (35%), lipoma or combination of these. of teratoma , leading to malignant transformation [13]. The mass can cause an obstruction or other symptoms such as ascending meningitis if an enteric fistula is present. Posterior saggital anorectoplasty is widely favored in the surgical treatment, allowing radical exci- sion of the presacral mass and reconstruction of anus.

4. Conclusion

This case highlights the purpose of complete rectal examination and implementation of additional diagno- stic examinations in all cases of intractable constipation when the pediatrician faced with a child who suffers Figure 5. Histopathologic examination confirmed diagnosis of from chronic constipation must always think about po- meningocele ssible, very rare congenital syndromes that may be the

725 Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum.

cause of nonfunctional constipation. PSARP is widely favored in the surgical treatment, allowing radical exci- sion of the presacral mass and reconstruction of anus.

References

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