Clinical and Experimental Pediatrics

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Original Article

Young Bong Moon, Yang Bin Im, Dong Hwan Lee, Sang Jhoo Lee, In Sook Kim, Tae Jung Kwon, Dong Wha Lee

Clin Exp Pediatr. 1989;32(3):402-411. Published online March 31, 1989

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...

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