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Case Report

A Case of Polyglandular Autoimmune Syndrome

Kyung Ah Choi, Ji Yeoun Kang, Chul Hoe Koo, Wha Mo Lee, Young Suk Jeon

Clin Exp Pediatr. 1998;41(9):1299-1303. Published online September 15, 1998

When dysfunction of two or more endocrine glands occurs in association with circulating organ specific antibodies directed against the involved glands, the term polyglandular autoimmune(PGA) syndrome is applied. This syndrome is usually classified into three groups. The autoimmune nature of this disease has been based on the presence of lymphocytic infiltration of the affected glands, organ specific autoantibody in serum,...

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...

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