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Wilson's disease: A Clinical autopsy case report with review of literature

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, c...

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Detalles Bibliográficos
Autores principales: Raju, Kalyani, Bangalore, Gayathri Nagaraj, Thuruvekere, Suresh Nagaraj, Pathavanalli, Venkatarathnamma Narayanappa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367052/
https://www.ncbi.nlm.nih.gov/pubmed/25810676
http://dx.doi.org/10.4103/0976-9668.149210
Descripción
Sumario: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.