Abstract

Introduction

Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this build up can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances.^{[1] [2]} It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner.^[3][4] Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.^[1][4]

Case Report

A 20 -year-old woman presented with history of marriage since 3 years, thereafter she conceived and got spontaneously aborted at 6 months of amenorrhea, conceived again after 1 year and got spontaneous aborted at 3 months of amenorrhea. Patient then shifted herself to parents home and gradually she went mentally retard and developed depressive symptoms, intermittent tremor of the hands. She also reported difficulties with concentration. Physical examination of the eyes revealed bilateral Kayser–Fleischer rings (Panel A, arrows). Neurologic examination revealed mild dysphagia and dysarthria, and bradykinesia. Laboratory tests revealed elevated serum levels of alanine aminotransferase, aspartate aminotransferase, and γ-glutamyltransferase, as well as low serum levels of ceruloplasmin (0.12 g per liter; reference range, 0.2 to 0.5) and copper (7.1 µmol per liter; reference range, 11 to 22); the urinary copper excretion was elevated, at 3.9 µmol per 24 hours (reference range, 0 to 1). A diagnosis of Wilson’s disease was made and patient was started on D- penicillamine, zinc and benzodiazepine. Patient is now symptomatically better, no psychological symptoms, conceived for the third time with 7 months of amenorrhea and expecting a healthy baby.