Atypical presentation of wilson’s disease with status epilepticus

Wilson’s disease is a rare autosomal recessive disorder, leads to the impairment in copper transport characterized by accumulation of anomalous amount of copper in the body tissues especially in the liver. The classical clinical presentation of the Wilson’s disease include presence of Keyser-Fischer ring, low serum ceruloplasmin levels and increased 24 hrs urinary copper levels. Here we present a case of 15 year old young girl who does not have classical clinical features of Wilson’s disease, rather she presented with psychotic onset, hepatic failure, near normal serum ceruloplasmin levels, status epilepticus and absent Keyser–Fischer rings. The Diagnosis confirmed with help of urinary copper values and brain CT scan. Wilson’s disease can be veiled for a long time with the psychiatric and neurological symptoms and rarely it may be complicated with frequent seizure attacks and it may be harmful for the patient. In this kind of unequivocal cases, mutation analysis is an imperative diagnostic measure.