Cryptogenic cirrhosis (CC) is defined as cirrhosis occurring in an individual without an identifiable cause of liver disease, such as excessive alcohol consumption, viral hepatitis infection, hemochromatosis, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis, chronic intake of medications that could induce cirrhosis, alpha-1-antitrypsin deficiency, Wilson's disease...

We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened afte...

INTRODUCTION Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades. CASE PRESENTATION An eight-year-old African boy presented with generalized oedema and ascites and proteinuria. Over the next three weeks he developed conjugated hyperbilirubinaemia, severe coagulopathy and prominent extra...

wilson&apos;s disease is a rare but treatable condition with variable clinical presentations. its diagnosis depends on a combination of clinical and laboratory findings. we evaluated the clinical and laboratory findings in children with wilson&apos;s disease (wd). twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed wd were evaluated between 1994 and 2003 at imam khomei...

We present a 19-year-old patient with hematologic and neurologic manifestations associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in October 2009. Bone marrow aspiration was normal. Gradually her neurologic and psychiatric symptoms emerged, dysarthria, writing apraxia, learning difficulties, emotionalism and eventually dystonia of hands. The serum ceruloplasmin was low...

Wilson disease (WD) was a once progressive and uniformly fatal inherited disorder of copper metabolism. Medical therapy to arrest progression or prevent complications of WD was developed in the 1950s with the introduction of parenterally administered BAL [1], and over the next two decades by oral therapy with d-penicillamine, trientine, and zinc [2]. Effective therapy for WD requires life-long ...

Causes of Melanosis other than Chlorpromazine THE pathological deposition of melanin is rarely seen in the tissues of the eye. Normally, small collections of melanin are sometimes seen in the eyes of Caucasians where the ciliary vessels pierce the sclera near the limbus. Larger collections of melanocytes form a benign naevus which may invade the cornea, or there may be multiple collections of m...

OBJECTIVE To describe the neurological manifestations, results of investigations and response to treatment in Wilson disease in children from Multan. METHODS This cross sectional study was conducted at Neurology Department of Children Hospital and Institute of Child Health Multan from June 2005 to May 2008. Fifty children were included in this study. Age at onset of symptoms, sex, duration of...