Authors : Reshma S Keskar, Reshma S Keskar, Annapurna C Taware, Annapurna C Taware
DOI : 10.18231/j.ijpo.2022.025
Volume : 9
Issue : 1
Year : 2022
Page No : 100-104
Wilson's disease is an autosomal recessive disease which result in defective copper metabolism, usually seen in young adults, predominantly affecting liver and brain. Although it is common 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 12 year-old male who had presented with clinical symptoms at 10 years of age. Patient's parent had non-consanguineous marriage and patient is 3 by birth order.
Keywords: Autopsy, Wilson's disease, Autosomal recessive disease