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A case of Niemann-Pick disease in a 12 year and 6 month old Korean male was reported. The patient showed marked hepatosplenomegaly without neurologic symptoms. Fundoscopic examination revealed a cherry-red spot with white ring in the maculae. Numerous foamy histiocytes and sea-blue histiocytes were seen in the bone marrow. The liver biopsy specimen showed the diffuse ballooning of hepatocytes obliterating... |
