Kalyani Raju1, Gayathri Nagaraj Bangalore1, Suresh Nagaraj Thuruvekere1, Venkatarathnamma Narayanappa Pathavanalli2
1Department of Pathology, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
2Department of General Medicine, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
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.
Keywords: Clinical autopsy, Wilson′s disease, autopsy, autosomal recessive disease.