Open AccessWilson′s disease: A Clinical autopsy case report with review of literature
Author(s) -
Kalyani Raju,
Gayathri Nagaraj Bangalore,
Suresh Nagaraj Thuruvekere,
Venkatarathnamma Narayanappa Pathavanalli
Publication year - 2015
Publication title -
journal of natural science, biology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 30
eISSN - 2229-7707
pISSN - 0976-9668
DOI - 10.4103/0976-9668.149210
Subject(s) - autopsy , medicine , incidence (geometry) , disease , pediatrics , sibling , epidemiology , presentation (obstetrics) , pathology , surgery , psychology , developmental psychology , physics , optics
Wilson's disease is an autosomal recessive disease resulting in defective copper metabolism, which is usually seen in young adults, predominantly affecting liver and brain. Although it is not uncommon in India, variation in epidemiology, clinical presentation and course are reported. However, community-based incidence and prevalence rates are not available in India and incidences are limited to hospital based reports. Most often, the diagnosis is delayed. We present a clinical autopsy case in a 39 year-old female who had presented with clinical symptoms at 18 years of age. The duration of illness was 21 years. Patient's parent had consanguineous marriage and the younger sibling had died at 5 years of age with similar complaints.