No abstract

Wilson disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver, cornea, kidney and brain. There are varied clinical presentations for WD. The prognosis depends on various factors like age, sex, organ involvement, time of diagnosis, early initiation of de-coppering therapy and extent of involvement in case of neurowilson disease. In WD excessive copper accumulates in liver then gets redistributed to nervous system, cornea, kidneys and other organs. In first decade of life, hepatic involvement predominates but neurological manifestations occur in third or fourth decade. Studies showed Indian children with neurowilson disease present with behavior abnormality, speech and cognitive impairment, sub-clinical affection of visual pathway and autonomic function. Here we present a 12 years old girl with primary neurological manifestation of Wilson disease. She presented with abnormal gait, dysarthria and inappropriate laughter. On examination she also had Kayser-Fleischer (KF) ring in both eyes and MRI revealed extensive gray and white matter abnormalities, which suggest poor prognosis in the index case. In spite of good compliance with de-coppering therapy with D-penicillamine and zinc, she had progressive neurological deterioration in the form of progressive dystonia, dysarthria and difficulty in walking.