[Infantile type of Niemann-Pick disease with developmental defects of the central nervous system]

Clinical and morphologic manifestations of a rare disease developing, as a rule, in early life--an infantile variant of Niemann-Pick disease--are illustrated with a fatal case of a 6.5-month-old child. The diagnosis was established histochemically using, in particular, Smith-Dietrich method which provided differential diagnosis with cerebroside lipidosis (Gaucher's disease). In addition to typical enlargement of the liver, spleen and lymph nodes, cerebral and adrenal affection there appeared true porencephalia.