Pseudo-Dominant Inheritance of Wilson’s Dis...

Pseudo-Dominant Inheritance of Wilson’s Disease

Author Name : Dr. V Venugopal Rao, Ajjan Vaishnavi

ABSTRACT

Wilson Disease, it is a disorder which leads to accumulation of excessive amount of copper in the liver, brain, eyes and other organs. Although copper is essential for normal psychologic function, it can become toxic and life threatening when too much is present with in critical organs, especially liver and brain. There is no cure for Wilson disease and patient affected with this disorder face problems and need life time treatment. Wilson disease in two or more successive generations within the same family, reflecting a “pseudo-dominant” inheritance.

A patient with Wilson’s disease is described who presented with essential tremor in a family with a pseudo-dominant history of tremor. Subsequent investigation showed that patient’s mother had essential tremor, the possibility of Wilson’s disease in patient and his family members with a movement disorder, it is suspected to be pseudo-dominant more likely than recessive disorder.

Keywords: Essential tremor, Kayser-Fleischer ring, Copper accumulation.