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A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis

Korean Journal of Pediatrics 2008;51(6):650-654.
Published online June 15, 2008.
A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
Ju Young Lee1, Jeong Ok Shim1, Hye Ran Yang1, Ju Young Chang1, Choong Ho Shin1, Jae Sung Ko1, Jeong Kee Seo1, Woo Sun Kim2, Gyeong Hoon Kang3, Jeong Han Song4, Jong Won Kim5
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
2Department of Radiology, Seoul National University College of Medicine, Seoul, Korea
3Department of Pathology, Seoul National University College of Medicine, Seoul, Korea
4Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea
5Department of Laboratory Medicine, Samsung Seoul Hospital, Sungkyunkwan University College of Medicine, Seoul, Korea
당원병과 뮤코다당체침착증이 동시에 발견된증례 1예
이주영1, 심정옥1, 양혜란1, 장주영1, 신충호1, 고재성1, 서정기1, 김우선2, 강경훈3, 송정한4, 김종원5
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 방사선과학교실
3서울대학교 의과대학 병리학교실
4서울대학교 의과대학 검사의학교실
5성균관대학교 의과대학 삼성서울병원 진단검사의학과
Abstract
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.
Key Words: Glycogen storage disease, Mucopolysaccharidosis, Hunter syndrome, Hepatomegaly


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