DOI: 10.14260/jemds/2015/431 CASE REPORT J of Evolution of Med and Dent Sci/ eISSN- 2278-4802, pISSN- 2278-4748/ Vol. 4/ Issue 17/ Feb 26, 2015 Page 2984 WILSON’S DISEASE PRESENTING AS HEMOLYTIC ANEMIA Ritu Mital 1 , Priyanka Gupta 2 , Aditya Bhatt 3 HOW TO CITE THIS ARTICLE: Ritu Mital, Priyanka Gupta, Aditya Bhatt. “Wilson’s Disease Presenting as Hemolytic Anemia”. Journal of Evolution of Medical and Dental Sciences 2015; Vol. 4, Issue 17, February 26; Page: 2984-2987, DOI: 10.14260/jemds/2015/431 ABSTRACT: BACKGROUND: Hemolytic anemia as the first presentation of Wilson’s disease is extremely rare. CASE CHARACTERISTICS: A 4 year old girl of Wilson’s disease presented with jaundice, anemia, abdominal distension and history of melena and hematuria. OBSERVATION: A diagnosis of Wilson’s disease was made, and she was put on d-penicillamine and zinc orally. OUTCOME: Marked improvement was noticed at1month follow up. MESSAGE: Wilson’s disease should be considered in any child presenting with haemolytic anemia with liver disease. KEYWORDS: Hepatolenticular degeneration, Kayser-Fleischer rings, d- penicillamine. INTRODUCTION: Wilson’s disease is a genetic disorder of copper handling affecting mainly the liver but also the brain, eyes and kidneys. 1 This disease has a worldwide prevalence of approximately 30 affected individuals per million of population. 2 The gene for Wilson’s disease (ATP7B) has been mapped to chromosome 13(13q14.3). 3 The usual age of presentation is between 5-35 years. 4 The spectrum of Wilson’s disease ranges from asymptomatic hepatomegaly to acute liver failure but hemolytic anemia as a presenting feature is rare. Hemolytic anemia is a recognized but uncommon (10–15%) complication of this disease. 5 We report here a case of wilsons disease who presented to us with anemia and jaundice and after an exhaustive work up, the diagnosis was confirmed to be Wilson’s disease. CASE REPORT: A 4 years old girl presented with fever, jaundice, anemia and abdominal distension for two months. History of haematuria and malena was also present. There was no history of clay coloured stools, rashes, diarrhoea, hematemesis, abnormal movements, passage of worms in stool. No similar illness or any hospitalisation had occurred in the past. There was no history of similar illness in other siblings. Prior to her presentation to us, she had been admitted in some other hospital for 6 days where she was managed as a case of septicaemia and had one blood transfusion but could not improve and hence was referred to our setting. The child was highly irritable at the time of admission. Head to toe examination revealed dry and lustreless hair; icterus and pallor were present, teeth were brown stained and tongue was coated. The skin was dry and scaly. Per abdomen examination revealed distended abdomen with hepatomegaly-2 cm below costal margin and liver span of 9 cm, splenomegaly 1 cm below costal margin and mild ascites with presence of shifting dullness. Initial work up showed Hb- 5.5 gm%, platelet count- 30, 000/ mm, 3 total bilirubin- 3.3mg/dl, moderately elevated liver enzymes and deranged coagulation profile (INR-1.67, PT-18 sec). General blood picture showed significant number of microcytic hypochromic cells, tear drop cells and pencil cells. These investigations pointed towards haemolytic anemia. Direct Coombs’ test, malarial antigen test and Widal test were negative. HbsAg and HCV test were also negative. Finally, work up for Wilsons Disease was done which showed that urinary copper was raised (100ug/24hours) and