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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...
Case Report
A Case of Niemann-Pick Disease with Sea-Blue histiocytes in the Bone Marrow.
Young Sun Kim, Soo Heum Lim, Jeong Kee Seo, Hyo Seop Ahn, Hyung Ro Moon
Clin Exp Pediatr. 1985;28(12):1238-1244.   Published online December 31, 1985
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...