Cherry red spots on the macula

Niemann-Pick's disease (NPD) is a hereditary metabolic disease caused by sphingomyelin and cholesterol deposition in various organs of the body. It is common in young children and has liver, splenomegaly, and macular cherry in the fundus. The main features are red spots and large foam-like cells in bone marrow smears. The first case of this disease was reported by Niemann in 1914. In 1922, Pick gave a detailed description of his pathological findings, hence the name. China reported two cases for the first time in 1963, and one case has been reported since.

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