Wilson’s Disease - A Case Report

Abstract

Introduction: Wilson's disease (WD) is a disorder of copper metabolism leading to the accumulation of this metal in different organs. Hepatic manifestations tend to occur in the first decade and neurological symptoms in the third decade. Neurological manifestations are said to worsen with chelation therapy. Case report: In our patient however the initial manifestation was head tremor at the age of 43 years which improved with treatment. The patient for some reason stopped the therapy for 8 years after which he decided to resume it only to precipitate the liver cirrhosis clinically-something that has not been reported earlier. The diagnosis was missed initially. However treatment produced good results. Conclusion: The case also serves as a reminder not to dismiss this disease as a rare theoretical possibility but to suspect it in a case of liver cirrhosis of unknown etiology or when the patient presents with an obscure isolated neurological sign such as tremor. Delayed recognition of the disease or stopping therapy can lead to a progression of the disease. The patient had many unusual features which are being reported for future reference by researchers and practioners.

An Unusual Presentation of Wilson's Disease

“…Similar cases, mostly involving individuals over 40, have been reported [ 8 , 9 ], where the first presentation is related to the neurological system without hepatic involvement.…”

Wilson’s Disease Presenting with Generalized Tonic-Clonic Seizure and Cerebellar Dysfunction

“…However, this has been denied by some other reports. 20 The neurologic symptoms ameliorated in our patient after treatment with penicillamine.…”

Challenging diagnosis of Wilson’s disease – a case report

“…This is supported by a case series from the Philippines, and neighbouring India. 3,10 However, our patient presented initially with hepatic symptoms including hepatomegaly, jaundice and abdominal pain, without any neurologic symptoms.…”