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Case Report
A case of Niemann-Pick disease type A
Ho Yen Yu, Ji Eun Oh, Jae Sun Park, Mi Hyang Kim, Sin Dong Kim, Kyung Soon Jung
Clin Exp Pediatr. 2006;49(12):1358-1362.   Published online December 15, 2006
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic...
A Case of Type A Niemann-Pick Disease
Eun Young Jeon, Kyung Ah Choi, Chul Hoe Koo, Wha Mo Lee, Young Suk Jeon, Chang Hun Lee, Kang Suek Suh, Sun Kyeung Lee
Clin Exp Pediatr. 1998;41(2):275-280.   Published online February 15, 1998
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed...
Original Article
A Case of Type A Niemann-Pick Disease.
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...
A Case of Type A Niemann Pick Disease.
Hyo Nam Cho, Hong Jin Lee, Jae Won Song, Jung Hwan Choi, Hyung Ro Moon, Je Geun Ji, Myeong Hee Park
Clin Exp Pediatr. 1987;30(12):1461-1467.   Published online December 31, 1987
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...
Case Report
A Case of Niemann Pick Disease.
Sung Hwan Kim, Young Joo Choi, In Ho Kim, Sang Woo Kim
Clin Exp Pediatr. 1983;26(10):1039-1043.   Published online October 31, 1983
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....