I UI'UI I I vol. 03 NO. 01 JUNE 2018
PAEDIATRIC NEPHROLOGY IOURNAT OF BANGLADESH Volume 3 Number 1 |une 2018 Editorial o Dissemination of Paediatric Nephrology Service- A Demand of Time Prof. Mt|. Habibur Raltman Original Articles . Pattern of Histopathology of Glomerulonephritis in the Department of Pediatric Nephrologv of A Tertiary Care Hospital: An Experience of Four Years Mohnnrmed Maruf-ul-QtLader, Kirity Prssad Deb, Sanot Kumar Bsrua, lmrul Kayes, Bssana Rani Mulruri, \lasir Uddin Mqlmtrd, Prsnob Ktnnnr Choutdlrury, Arup Duttn, Klmli d S aifull ah, Aditi Choio dhu ry o Study of Etiological Profile of Children Presented with Hepatomegaly andf or Splenomegal,v: An Experience from Pediatric Gastroenterologv Department Bangabandhu Sheikh Mujib Medical University Md. Benzomin, Mtirutmn Sayeed, Md. Saidul Isloru, Rubttiyat Alam, Md. Ruktrnuzzaman, Md. Wahidttzzanlan Mnzumder, ASM Bazlul Karim . Estimation of Serum IgG ler.el in Nephrotic Children with Infection 18 Sainta Ensin, Fsreln lesmin Rabbi, Shireen Afroz, Md. Anit,ar Hossnin KlMn Review Articles . IgA Nephropathy: A Rerrien 23 Ssbinn Sultantt, Afroza Begunr o Recombinant Erythropoietin Therapr, In Children With Renal Anaemia : A Revier,v 31 Azmeri Sultarto, Ronjit Ronjan Roy, Golsrn Muinuddin, Md. Hnbibttr Raltnttn o Nephrocalcinosis in Children: A Revier,r, Fttrhttna Ralunan. Shsnnin Akter Luno,'I-ilnnins lesntin, Ranjit Ranjon Rou .)d Case Reports o Aerophagia in Children: Report of a Rare Functional Gastrointestinal Disorder ,18 r,r ith Literature Rer ier.t Wslritluzzorrtan Moiunttle r, Afstutri Yosmifi, Zatnmtul Fertlons Sonin, Fnlunitln Begutri, Rtfu sitl s t A l nr rt, NILI. Rt Lk u r r u z z t r t t n n, A S lt4 B nzl ul Ks ri nt o Svstemic Lupus Erythgrl.,.sus Presentirrg as Steroid Ilesistant Nephrotic Syndrome 51 A Rare Errent lnlrortartr Arjtt, Rutnnrsns Tnzio,, Taltnittti Jcsnin, Ronjit Rartjnn Rotl o Bowing of Leg ancl Cvnaeconrastia as an Atvpical Presentation of \{ilson Disease: 55 -.A Case Report ' Md. Banzarnin, ASM Bazlul Karim, A.fsnn n Y o.sntin, Ab dillahel Am anrt, Rubaiqot Alam, Rijoq Talukder
Cqse Report Bowin g of L.g and Gynaecomastia as an Atypical Presentation of Wilson Disease: A Case Report Md. Benzaminl, -{S\I Bazlul Karim2, Afsana Yasmin3, Abdullahel Amaan4, Rubaivat,\lami. Bij ov Talukder6 Akact l\71*,n di*i.<e is an autosomal-recessizte disorder of chronic copper toxicosis due to mutation in theATPTB gne-,thidt causesirnpairedbiliary copper excretion resultinginhEatic copper accumulation €- toicifu rnd subsequmt multisystem disease inaoloing the lioer, brain, cornea, skeleton and rarely the ]uart. The disease typically begins with an asymptomatic period zuith subclinical hepatitis and pros'resses to lieer cinhosis and neuropsychiatric symptoms, It may present with some unusual {eature, ulich sometimes confuses clinicians and makes a diagnostic dilemma. Here we present an 1"5 vears old bou presenfing with Bowing of leg and gynaecomastia diagnosed as Wilson disease. Keywoils: Wlson disease, Bouting of leg, gynaecomastia. (Paed. Neph. l. Bang. 2018; 3(1) : 55-59). and subsequent multisystem disease involving the Introduction: liver, brair; cornea, skeleton and rarely the heart.a Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism. It was first described Case Report in 1912bv Kinnear Wilson as "progressive lenticular 15 year old boy,ltt issue of non-consanguineous de generation, " a tar:.rilial, lethal neurolo gical disease parents presented with the history of bowing of leg accompanied by chronic liver disease leading to & difficulty in walking for last 2 years,enlargement cirrhosis.l of breast for last L year & slurring of speech for last 6 It affecb 1 in 30,000 peopie with a gene frequency of months. Bowing of both leg initially was mild which 0.56% &. a carrier frequency of 1 in 90.2 In some gradually increasing associated with progressive populations living in socio-culturally isolated walking difficulty. comrrrunities n'ith a high rate of consanguinity, the Mother noticed gradual enlargement of his breast like frequencv of the disease is higher and may increase female. For last 6 month he developed dysarthria in up to 1:1130.3 the form of slurring & is progressive. Mother also Wilson disease (WD) is a disease of copper noticed abnormal body movement for last 6 month. metabolism caused by mutations within the ATPTB Mother give history of deterioration of school gene whichcauses impaired biliary copper excretion performance for last 3 years & fracture of sha-ft of tibia resuJting in hepatic copper accumulation & toxicity (right) following minor trauma'l.year back. He had no history of jaundice, joint pain & convulsion .He 1,. Resident, Phase B, Department of Paediatric Gastro- hadfamilyhistory of death due to liver disease; others enterologr" and Nutrition, BSMMU, Dhaka member are healthy. Hehadno H/Oimmunization 2. Chairman, Depaftment of Paediatric, Gastroenterology against Hepatitis B. He received inj. testosterone for and Nuirition, BSMMU, Dhaka g)maecomastia. On examinatior; he has smiling face, 3. MD, Department of Paediatric Gastroenterology and afebrile, moderately pale, anicteric and vitally Nutritioru BSMMU, Dhaka 4. stable.Wasting of thenar & hypothenar muscle, true Residerrt, Phase B, Departrnent of Neonatology, BSMMU, g)maecomastia present,no pubic hair or axillaryhair. Shahbag Dhaka. 5. Medical olficer, Department of Paediatric His height was 149 cm & weight 33 kg -within centile. Gastroenterology and Nutritioru BSMMU, Dhaka On gastrointestinal sytem examination, just palpable 6. MD (2spart ), Department of Paediatrics, Rajshahi liver, splenomegaly 3 cm & ascites present evidence Medical college by shifting dullness . on nurological examination Correspondence: Dr.Md. Benzamin , Resident, Department incordination of movement,dysarthria & brisk knee of Paediatric Gastroenterology and NutritioO BSMMU, Dhaka jerk present.on locomotor examinatiorL joint normal Shahbag, Dhaka, Mobile no: 01,7L9183948, E-mail: drmd. & intercondyler distance L0 cm. benzamin@yahoo.com
Paed. Neph. J. Bang. Vol. 03, \o Complete blood count shows moderate anemia Table-I thrombocytopenia, serum albumin low,SGpT high, Lab or atory intt e sti t tt t i u t 25-OH vit-D low, s.creatinine, s.uric acid normal, Investigations prothrombin time with NR -high, USG of HBS shows Patient's I'a1ue Hemoglobin 7Ro/,ll coarse hepatic parenchyma with splenomegaly with r.v6lu1 ascites (Table I). After evaluating the clinical data, White cell count 3500/nm3 physical findings and investigations results, the case Neutrbphil 58 oo was provisionally diagnosed Chronic liver disease Lymphoryte 35 "o due to Wilson disease with Rickets. As patient is not Eosinophil 05 o, immunized against HBV we had a differential Monoryte 0r'r, diagnosis - Chronic liver disease due to chronic Platelate 60[.]0i r:..::'.1 Hepatitis B with Rickets.After evaluating the patien/s ESR 30 nrn'. -:' -" -rlur presenting features, physical findings ind the PBF pa11a-.-:,- : ar-.r: laboratory tests results, s.ceruloplasmin (6mg/dI ), S.Albumin l.i r:'.: ;- 24 hour urinary copper (374 micro grn/ dI) ,eye evaluation for K-F ring ( +ve) was done which ill Prot}rombintime -I : , ,-. - =!, 1 goes infavour of Wilson disease. i].- SGPT - l:.'' :-: ::r- 25-OHvit-D HBsAg & anti HCV was negative which exclude viral UrineR/M/E cause of CLD. We also did esophago-gastroduodeno- 1-.t-lll-,:, scopy which shows esophageal varices. S.creatinine '=.--- i- \- S.electrolytes -\ -: - - '.- '__ -'r .), For bowing of leg we gone for xray lower limb & there -.-'..::-::-.--l 1 was no feature suggestive of rickets expect C- - - ,::'.::'r.l,,'i generalized osteopenia .S. Vitamine D was S.uric acid r,l-:-: low(insufficient) but S.C6++, Alkaline phosphatase -t, DopplerUSGof HBS C .: -: :. . - =:':tic ,S. PTH was normal. Dexa bone scane for bone marrow :.'.:'=:-: -' ::'La rVith density was done & shows reduced bone mineral .:-=:-. ::-.:ai\' tr-ith asciteS density .MRI of brain suggestive of Wilson disease. ' u=+-'!!IL '.# re w==: s= ffi= #€ xf *5 x5 : &E=E X E = 'r:.' . *: -: t- r:.' r -E F - :-::= =E =,2 .* c Fig:a.SnilingfncezuitltLtotttingoflegb Generalizedosteopenioc.Htllteriltertsesignalclwr.tgesinlentiforxtnucleus. 56
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