Wilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings 1476-1478
Dr Mani Kant Kumar,
Assistant Professor, Department of Pediatrics,
Narayan Medical College and Hospital, Jamuhar,
Sasaram, Dist â€“ Rohtas, Bihar â€“ 821305, India.
Phone: +91 9162095353
Wilsonâ€™s Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser â€“ Fleischer ring. Here, we are reporting two siblings who were affected by Wilsonâ€™s disease, with only neurological manifestations, without any hepatic involvement.