대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
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발달의 퇴행을 보여 진단된 제2형 GM1 gangliosidosis 1례

Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report

  • 고정민 (서울대학교 의과대학 소아과학교실) ;
  • 조태준 (서울대학교 의과대학 정형외과학교실) ;
  • 채종희 (서울대학교 의과대학 소아과학교실)
  • Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Cho, Tae Joon (Department of Orthopedic Surgery, Seoul National University College of Medicine) ;
  • Chae, Jong-Hee (Department of Pediatrics, Seoul National University College of Medicine)
  • 발행 : 2014.12.25
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초록

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

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참고문헌

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