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We experienced a case of type A Niemann Pick disease in 13 month female baby. She showed
marked hepatosplenomegaly, developmental regression and apathy. Fundoscopic examination
revealed a cherry red spot in the macula. Numerous foamy histiocyte were seen in bone marrow.
Autopsy finding revealed that liver, spleen, thymus, lymph node, lung and brain were involved. Liver
showed fatty change. Generalized muscular atrophy and patch... |
