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Author reported a case of Niemann Pick disease in a 9 month old Korean male infant.
The patient showed marked, hepatosplenomegaly and delayed motor developement which was
started since 5 months of age. His elder sister, who showed the same clinical manifestations,
died at 1 year of age without apparent cause.
Peripheral blood smear showed many unusual lymphocytes and monocytes which contain
numerous intracytoplasmic vacuoles.... |