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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
The Diagnostic Value of Liver Biopsy in Children with Fever of Unknown Origin and Hepatosplenomegaly
Sue Mee Park, Yeon Ho Choi, Jong Jae Kim, Hoan Jong Lee, Jeong Kee Seo
Clin Exp Pediatr. 1996;39(11):1544-1555.   Published online November 15, 1996
Purpose : Although many strides have been made in the radiological and laboratory diagnosis, the liver biopsy is still considered an important tool for the diagnosis of liver disease. We report our experience that histologic investigation of the liver was essential searching for the etiologic diagnosis in eight children with fever of unknowm origin and hepatosplenomegaly, who's diagnosis were not documented by other diagnostic...
Two cases of Gaucher disease in brother and sister.
Yong Ju Kim, Ki Young Cheong, Jong Jin Seo, Keon Su Rhee, Young Hun Chung, Seon Hoe Koo
Clin Exp Pediatr. 1991;34(8):1151-1156.   Published online August 31, 1991
We experienced two cases of Gaucher disease in brother and sister. The first case of 6 year old female showed hepatosplenomegaly with thrombocytopenia and characteristic Gaucher cells in bone marrow aspiration and biopsy. She is alive without complaints except abdominal distension. The second case of 3 year ~ 7 month old male showed hepatosplenomegaly with anemia and throm- bocytopenia. There were characteristic Gaucher cells...
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 Gaucher's Disease.
Hyo Nam Cho, Myung Cheol Cho, Hyung Ro Moon, Je Geun Chi, Hyo Min Kim
Clin Exp Pediatr. 1987;30(7):784-790.   Published online July 31, 1987
We experienced a case of Gaucher’s disease of acute infantile type in a 12 month old male boy. The patient showed hepatosplenomegaly with anemia and thrombocytopenia, developmental delay and frequent infection. There were characteristic Gaucher’s cells in bone marrow aspiration and biopsy of liver, spleen, & lymph node. Splenectomy was done at 25 month old. He expired 3 days after splenectomy. Autopsy was done....
A Case of Gaucher's Disease.
J S Kim, S J Kim, H J Suh, I J Kang, S Y Chung, J B Park, S K Moon, S Y Kim
Clin Exp Pediatr. 1986;29(9):1028-1034.   Published online September 30, 1986
We experienced a case of adult type Gaucher's disease in 14 month old male. The patient showed hepatosplenomegaly with anemia and characteristic Gaucher cells in bone marrow aspiration and biopsy of liver and spleen both in light microscopic and electromicroscopic examination. Splenectomy was followed by improvement of anemia and thrombocytopenia but hepatomegaly remained even progressed. A brief review of literature was...
Two Cases of Gaucher's Disease in Brothers.
Jeong Sick Min, Il Whan Kim, Dae Young Hwang, Hyun Gi Jeong, Jae Sun Park, In Sun Jun, Man Ha Huh
Clin Exp Pediatr. 1984;27(6):628-634.   Published online June 30, 1984
We experienced 2 cases of Gaucher' s disease of adult type in brothers when their ages were 4 year 1 month and 3 year 10 month respectively. They showed remarkable hepatosplenomegaly with mild hematologic complications and characteristic histiocytoid cells in the spleen and liver biopsies. Splenectomy was followed by improvement of anemia and labored respiration in both patients. In case...
A Case of Gaucher'S Disease In Identical Twins.
Woo Yeong Chung, Ki Tae Kim, Heon Kyung Lee, Soon Yong Lee, Young Sik Park, Yeon Soon Kim, Soon Ho Kim, Eun Yup Lee
Clin Exp Pediatr. 1983;26(6):598-605.   Published online June 30, 1983
We experienced a case of Gaucher’s disease of adult type in 3 year 8 month old male who was one of identical twins with family history of splenomegaly in his two siblings. Diagnosis was based on clinical pictures such as marked hepatosplenomegaly with anemia and characteristic pathologic findings of liver and spleen. There were no specific complications after splenectomy until now. Review of literatures was...