All issues > Volume 26(10); 1983

Case Report

J Korean Pediatr Soc. 1983;26(10):1039-1043. Published online October 31, 1983.

A Case of Niemann Pick Disease.

Sung Hwan Kim¹, Young Joo Choi¹, In Ho Kim¹, Sang Woo Kim¹

¹Dept, of Pediatrics, Seoul Paik Hospital, In Je Medical College

Abstract

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. Fundoscopic examination revealed cherry red spot in the both macular area of retina. Numerous foamy histiocytes were seen in the bone marrow spe- cimen. Specimen of liver biopsy showed the fatty infiltration without histiocytic infiltration. During the follow-up for 9 months, he progressively became to be a vegetable state without voluntary motor activities and he could not able to see and hear. Finally lie was diagnosed as infantile Niemann Pick disease.

Keywords :Niemann Pick Disease; Cherry Red Spot; Foamy Histiocyte.