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We experienced a case of type A Niemann-Pick disease in 31 month-old female infant. She showed
dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination
revealed cherry red spots in both macula. Autopsy finding revealed that Iiver, spleen, lung, kidney,
bone marrow, lymph node and brain were involved. Especially multiple ischemic necrosis were found
on cerebral and cerebellar white matter. Generalized muscular atrophy and reticular... |
