Reshma S Keskar

Abstract

­­­­­­­­­­­­­­­­­­Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of adrenocorticotropin independent Cushing Syndrome. Majority cases are diagnosed in second or third decade of life. Presentation of PPNAD in early childhood is very rare. It is characterized by adrenocorticotrophic hormone [ACTH] independent, hypersecretion of cortisol by multiple, pigmented nodules of hyperplastic adrenocortical cells. The histology varies with age, the pigmentation increasing with age. More than ninety percent of reported cases of PPNAD occur as one of the manifestation of Carney’s complex.   Keywords: PPNAD, Cushing Syndrome, Cortisol, ACTH independent.

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Abstract

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

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