Volume : X, Issue : VI, June - 2020

The Story: Not In Words But Through The Slit Lamp

Dr. Charu Jha, Dr Kaustubh Abnave

Abstract :

Wilson disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper–transporting gene ATP7B. The disease’s mode of inheritance is autosomal recessive, and is characterized by excessive copper deposition mainly in the liver, cornea, kidney and ain. 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 excess copper accumulates in liver and gets redistributed to nervous system, cornea, kidneys and others. In first decade of life, hepatic involvement predominates but neurological manifestations occur in third or fourth decade. Here we present a 12 years old male with primary neurological manifestation of Wilson disease. He presented with abnormal gait and inability to speak. On examination he also had Kayser– Fleischer (KF) ring in both eyes which clinically confirmed our diagnosis.

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Article: Download PDF    DOI : 10.36106/ijar  

Cite This Article:

THE STORY: NOT IN WORDS BUT THROUGH THE SLIT LAMP, Dr. Charu Jha, Dr Kaustubh Abnave INDIAN JOURNAL OF APPLIED RESEARCH : Volume-10 | Issue-6 | June-2020

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