Niemann-Pick disease: a case report.

Abstract

The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.