CLINICALCASO CLÍNICO CASE Journal homepage:http://revistas.urp.edu.pe/index.php/RFMHJournal Pág. 126 CLINICAL CASE 10.25176/RFMH.v19i4.2345 DOI Rev. Fac. Med. Hum. 2019;19(4):126-130. October report andliteraturereport review. Rev. Fac. 2019;19(4):126-130. DOI10.25176/RFMH.v19i4.2345 Med. Hum.October Aranzábal-Alegría,Cite Lino CésarAguirre-Retamozo. as: Espinoza-Chiong,Germán Dayanne Child maligine Benites-Gamboa, osteopetrosis: a case deMayo NationalHospital,3 Dos Lima-Peru. 2 Faculty ofHumanMedicine, RicardoPalma University, Lima-Peru. Research1 BiomedicalSciences Institute, RicardoPalma University, Lima-Peru. OSTEOPETROSIS MALIGNA INFANTIL: APROPÓSITO DE UN use, andreproduction distribution inany medium, provided thattheoriginalisdulycited. work For commercial [email protected] use, pleasecontact Creative Commons License:Creative CC Commons 4.0International, Attribution BY 4.0(https://creativecommons.org/licenses/by/4.0/), whichallows non-commercial oftheFaculty publishedby theJournal oftheRicardoPalmaArticle of Human Medicine ofthe undertheterms distributed University. isanopenaccessarticle, It Palabras clave: Osteopetrosis; Osteoclasto; Infantil; Retinopatía;Hueso. (fuente: BIREME) DeCS ósea sonelenfoque curativo para unaenfermedad depobre pronóstico. yuntratamientola enfermedad ylafaltadesospechaclínica,undiagnóstico detrasplante oportuno demedula Aunque eldiagnostico deosteopetrosis maligna infantil essencilloeste amenudoseretrasa porlainfrecuencia de Diagnóstico clínicasy fueconfirmadoradiológicas. porcaracterísticas Lapaciente recibió tratamiento desoporte. medula óseamostró hipercelularidad normal. conblancaymegacariocítica eritroide serie laserie hiperplásica, con retinopatía derecha. delesqueleto Radiografías revelaron unahiperdensidad óseageneralizada. Aspirado de distendido con circulación colateral y retardo en el crecimiento y de los hitos del desarrollo. Examen oftalmológico diagnosticada deosteopetrosis maligna infantil neuropática mientras seinvestigaba lacausadepalidez,abdomen unapaciente mujerde1año4meses, osteoclásticaremodelado anormal. Reportamos óseodebidoaunaactividad Osteopetrosis comprende deraras unaserie condiciones genéticasqueproduce enel undesequilibrio RESUMEN Key words: Osteopetrosis; Bone. Osteoclast; (source: Infantile; Retinopathy; NLM) MeSH disease ofpoorprognosis. diagnosisthe lack of clinical suspicion, early and treatment of bone marrow transplant is curative approach to a received care. supportive While thediagnosis issimpleOPAR delayed thisisoften ofthediseaseand by therarity white normal series. Diagnosis was confirmed by clinical and radiological megakaryocytic features. The patient a generalized bonehyperdensity. Shebone marrow aspirate showed hypercellularity withhyperplastic erythroid, and developmental milestones are investigating. Examination righteye withretinopathy. Skeletalx-rays revealed neuropathic childwhilecausingpaleness, distended abdomenwithcollateral circulation andgrowth retardation osteoclasticabnormal activity. We afemale patient report 1year 4months, diagnosed withmalignant osteopetrosis Osteopetrosis of rarecomprises a series genetic conditions that produce an imbalance in bone remodeling due to ABSTRACT remodeling that causesanimbalance inbone osteoclastic activity onradiographsdensity 1 conditions characterized by anincrease inbone Osteopetrosis ofrare comprises aseries genetic INTRODUCTION 3 2, LinoAguirre-Retamozo Aranzábal-Alegría1,1, Dayanne César Benites-Gamboa Espinoza-Chiong Germán CHILD MALIGINE OSTEOPETROSIS: A PURPOSE OF A CASE AND REVIEW OF ANDREVIEW APURPOSEOFCASE CHILD MALIGINE OSTEOPETROSIS: THE LITERATURE 2,3 . CASO YREVISIÓN LITERATURA DE LA , caused by an abnormal , causedby anabnormal osteopetrosis, isdiagnosed inthefirstmonths oflife recessive form, alsocalledinfantile malignant time;However,and hasalongsurvival theautosomal frequently diagnosed inlate childhoodoradulthood The autosomal dominant form is usually asymptomatic Faculty of Human MedicineURP ISSN Versión 2308-0531 Online: CASO CLÍNICO Rev. Fac. Med. Hum. 2019;19(4):126-130. presented. hematological andneurological complications is malignant osteopetrosis presenting with early The caseofapatient diagnosed withchildhood facial paralysis8 compressionnerve generating blindness, deafnessand changes intheboneremodeling produce oftheskull and greater to susceptibility infections hematopoiesis extramedullary thrombocytopenia, hematological that abnormalities includeanemia, prominences, hydrocephalus, metabolicabnormalities, forms whichincludemacrocephaly withfrontal severe manifestations tend to appearinchildhood (11, 145/mm3),platelet count 20,000/mm3,atypical 22,287with a predominanceleukocytes ofsegmented test showedAuxiliary the following: 4.5 gr / dl, Hb loss.hearing additionto presentingmonosyllables). In bilateral control, (nocervico-thoracic language with observed retardation and developmental milestones were Severe flange ofnormal consistency). growth circulation andhepatomegaly (7cmofthesubcostal bilateral snoring, distended abdomenwithcollateral congestion, multifocal systolic II/ murmur V, diffuse in botheyes, anterior fontanel 4cm,rightnasal photoreactivity, lateral hemorrhage subconjunctival eye,dystichiasis intheleft anisocoria, preserved pallor, subcutaneouscellular tissueinasmallamount, On physical examination, shepresented general studies.Lima for further gastrointestinal soitwas suggested tract, transfer to I have recurrent and infectionsoftherespiratorytract versusalleged nutritional addition, parasitic origin; In andsevere malnutrition diarrhea, anemiaof dysentery year old. Shewas hospitalized for 17days for non- 47 cmandacephalic perimeter of34cm;andone complications withaweight of2,900gr, height of of symptoms. of35weeks sheborn without amoxicillin plusacetaminophen withthepersistence cough andweightrhinorrhea, loss;Hewas given deMayonacional Dos for fever, nasal congestion, of Hospital comes department to the emergency female patientA 16months-old from Oxapampa who CLINICAL CASE at oneyear ofage, withtheworst prognosis . 6,7 . In addition, addition, . In 4,5 . The most most . The transfer to anotherhealthcenter. resolution, the case was not followed due upon to syndrome bronchial withfavorable obstruction due transplant, eight days butafter shehadare-entry to theNational Children's for Institute abonemarrow 3months ofhospitalizationafter withabigreference calcium supplementation. The patient went to home bloodtransfusions andvitaminD Erythropoietin, pneumonia dueto Staphylococcus epidermidis., treatment includingantibiotic therapy for in-hospital The patient received andsymptomatic supportive given the poor resourcesbe performed ofparents. however,characteristics; ageneticanalysis could not due to the correlations of the radiographic and clinical malignant osteopetrosis in the neuropathic variant infections. The definitive diagnosis was aninfantile pseudohypoparathyroidism and congenital in bonepresentation, hypoparathyroidism, myelodysplastic syndromes, Paget's disease Among the differential diagnoses raised were time. dueto calibrated poorly equipmentperformed at the studyandevoked potentialscytogenetic were not andplasmacells 8% lymphoidseries 0%.Normal series, arrest with4.5%blasts, megakaryocytic normal predominance, myeloid normal withmaturation series withorthochromatic series hyperplasia erythroid showed hypercellularity, M/Eratio: 1/1,severe retinopathy aspirate oftherighteye. Medullary Ophthalmoscopy showed opticneuropathy and probable steatosis, noadenomegalyandconstipation. spiral tomography showed hepatomegaly with alteration.no structural Abdominopelvic multislice hepatomegalymarked andthecardiac test showed ranges;normal Abdominal ultrasonography detected 4). However, in lumbarspinebonedensitometry generalized bonehyperdensity (Figure 1,2,3and Chest x-ray, baseandlower skull limbsshowed a Hepatitis was negative. CoombsDirect test, serology for TORCH, HIVELISAand 12-15 / fields. hemoglobin in electrophoresis. Normal parameters.normal test Urine withred bloodcells 1.32 µg, T4 0.7µg, PTH32.12pg/ml, othertests within CalciumIU /I,AFP9.79ngm,Serum 8.7mg/dl, TSH ml / h, biochemical test 47.6 seconds, LDH 2053 TTP 20%,blasts10%.PCR17.30mg%, lymphocytes VSG 50 Childhood malignant osteopetrosis: acase report and literature review Pág. 127 CASO CLÍNICO Rev. Fac. Med. Hum. 2019;19(4) Pág. 128 Figure 2. Figure 1. appearance." andboneas"Harlequin's mask the sphenoidorbits Chest x-ray. rosary. Notice therickety X-ray facialskeleton. Note thesclerosis of :126-130. the femur andvarus legs. easily deformity in Erlenmeyerrecognizable flask, in the appearance of insidethebone”“bone orbone limbs. Note thegeneralized with bonedensity Figure 3. Radiography ofthepelvisandlower Aranzábal-Alegría Get al CASO CLÍNICO Rev. Fac. Med. Hum. 2019;19(4):126-130. 1-3.4: 200,000 births according to1-3.4: 200,000births Fatorre Del etal data, butitisestimated that theincidence islessthan This rare pathology lacksprecise epidemiological density density radiological ofanincrease characteristic inbone of clinicallydifferent diseasesthat share thesame light bands.the characteristic tibial. Note thedefects of metaphyseal modelingand generating an imbalance inboneremodeling reabsorption boneandcartilaginous to perform and maturation ofosteoclasts that become unable it was associated with analteration intheformation althoughinanimalmodels etiologyisunknown Its X chromosome3. 2.OP Autosomal dominant (OPAD) and3.Linkedto the into two large groups: 1. Autosomal recessive (OPAR) , according ofOPvary to theirseverity,types are divided disease or marble bonedisease disease ormarble LOsteopetrosis (OP), alsocalledAlbers-Schönberg DISCUSSION Figure 4. 9–11 . Distal femoral radiograph proximal andleft 8 , comprises aset 13 . The 12 . OPAR, 2.OPAR plusrenal tubularacidosis theOPARIn there are suchas:1.Neuropathic subtypes classified asnormal, causingadelay inthediagnosis. ofourpatient theywerein theinitialradiology reports density, inFigure whichcanbeobserved osteopetrosis increase includeamarked inbone radiographicThe typical of characteristics presented thefirstmonths during oflife he was discharged. series, hematinic beganto beadministered withwhich addition to adecrease inthered andmegakaryocytic with antibiotics for 14days showing improvement, in reason for prolonged hospitalization andtreated for pneumoniainfection that was the Inhospitable the disease, our patient was offered atreatment that ispresenting thenatural 11during course of accordingto provide to support thesymptomatology pathology8, themanagement offered to thepatient is Currently there isnoeffective treatment againstthis treatment anddegree ofrelapse 8. has a differentbecause each type response to the to makethisdifference isimportant of thehearing. It despite nothaving aneurophysiological evaluation characterized by neuropathyvariety loss andhearing clinic presented by ourpatient isintheneuropathic no specific test for it the ones that give us the diagnosis8, since there is findings,laboratory the radiological findingsbeing The diagnosis of the OP is mainly made by the clinical- aspirate ofourpatient compatible findings were found inthebonemarrow malignant osteopetrosis andleukemias;however, no and association of childhood masking Studies report hepatomegaly discarding a myelodysplastic origin. deviation, 10%blastsand withleft leukocytosis test showedAuxiliary anemia, thrombocytopenia, loss bilateral, opticneuropathy andrightretinopathy; in additionto neurological alteration suchashearing an alteration ingrowth anddevelopment milestones, the clinicalfeatures mentioned, ourpatient presented characterized by the presence of severe caries of theforamen anddental defects where thesenerves deafness andfacialparalysis associated withastenosis cord aplasia,neurological alterations suchasblindness, hematological compatible abnormalities withspinal coanas stenosis, paranasal sinusdisorders, associated macrocephaly and frontal prominence, are thefollowing: growth disorders, hydrocephalus- patient's medical history. The clinicalfeatures ofOPAR neuropathies8, evidenced inthe andpancytopenia paranasal compression sinusmalformation, nerve from complications suchasnasalstiffness, related to with our patient, there is also a predisposition to suffer Childhood malignant osteopetrosis: acase report and literature review 12 15 . The OPAR isclassically variety . 14 , asisthecase 1,2,3 and4but 15 , by the Pág. 129 14 . Of . Of CASO CLÍNICO Rev. Fac. Med. Hum. 2019;19(4) Pág. 130 ncbi.nlm.nih.gov/pubmed/12574970 Ann Hematol.report. 2003;82(1):64–7.Disponible en: https://www. osteopetrosis initiallypresenting withneonatal hypocalcemia: case 7. ChenC-J, Lee M-Y, Malignant infantile ChengS-N. LienS-H, HsuM-L, article/10.1007%2Fs00223-005-0027-6 2005;77(5):263–74.Disponibleen:https://link.springer.com/Int. ofthehumanosteopetroses.molecular overview Calcif Tissue 6. Balemans W, Van Wesenbeeck L, Van Hul W. A clinicaland cda-adc.ca/jcda/vol-73/issue-9/839.html for Dentists. 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