Wilson's disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But it may sometimes have certain atypical presentations which may lead to diagnostic difficulties. We report here two cases who were diagnosed as Wilson's disease with prominent skin lesions over both lower extremities. These cases are reported here as it is rare and to highlight the fact that early recognition of the skin lesions may play a role in the diagnosis of Wilson's disease. The need to highlight the importance of skin lesion as a pointer to the early diagnosis of Wilson's disease because specific treatment can prevent further liver injury and neurological complications in most cases.
<p>We report a 5 year old male child who presented with a history of progressive jaundice since infancy and generalized pruritus. He was also found to have typical triangular facies, posterior embryotoxon on both eyes, peripheral pulmonary stenosis and paucity of bile ducts in liver biopsy. Magnetic resonance angiography of brain showed typical features of moyamoya disease. The child was diagnosed as a case of Alagille syndrome. This particular syndrome with feature of moyamoya disease has been rarely reported.</p>
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