2003) about a child with Wilson's disease presenting with psychotic symptoms. We report a similar case of Wilson's disease presenting with neurological and psychotic symptoms. She is being presented due to the later age of onset of the disorder as well as the presence of psychotic symptoms which is present in only 20 % of patients with Wilson's disease (Lishman, 1998) A 19 year old girl present...

It is generally believed that Wilson disease is an illness of children or young adults. Scheinberg and Sternlieb in their monograph ‘Wilson’s Disease’, based on a large series of patients seen over many years, reported only three patients over the age of 40. In my own series of over 300 patients seen between 1955 and 2000, the oldest patient referred was aged 39 years. However, it is now becomi...

Hypertrophic olivary degeneration resulting from lesions of the dento-rubro-olivary pathway, also called Guillain-Mollaret-triangle, has been described previously in a number of cases. Reports about bilateral hypertrophic olivary degeneration of the inferior olivary nuclei are very limited, and the magnetic resonance imaging findings of hypertrophic olivary degeneration in Wilson disease have n...

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In ...

We describe a 12 years old male who presented with one year history of cognitive decline with extrapyramidal features. Wilson disease was diagnosed on basis of biochemical studies and MRI. MRI showed increased signal intensity on T2 weighted images in basal ganglia and supratentorial with infratentorial gray and white matter. Our patient developed white matter changes early in course of disease.

Background Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagn...

: Wilson disease (WD) is an autosomal recessive with copper overload. Its clinical picture depends on specific tissue/system damage by the excess copper.

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...