Wilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings
Published: July 1, 2013 | DOI: https://doi.org/10.7860/JCDR/2013/.3188
Mani Kant Kumar, Vijay Kumar, Praphul Kumar Singh
1. Assistant Professor, Department of Pediatrics,
2. Assistant Professor, Department of Biochemistry,
3. MBBS, DCH, Clinical Tutor, Department of Pediatrics,
Narayan Medical College and Hospital, Jamuhar,
Sasaram, Bihar, India.
Correspondence
Dr Mani Kant Kumar,
Assistant Professor, Department of Pediatrics,
Narayan Medical College and Hospital, Jamuhar,
Sasaram, Dist – Rohtas, Bihar – 821305, India.
Phone: +91 9162095353
E-mail: manikant7@yahoo.com
Wilson’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 – Fleischer ring. Here, we are reporting two siblings who were affected by Wilson’s disease, with only neurological manifestations, without any hepatic involvement.
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