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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Childhood-Onset Niemann Pick Type C Disease

소아기에 발현한 C형 Niemann Pick 병 1례

  • Jung, Jiwon (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Oh, Arum (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Jin, Hee Kyung (Department of Laboratory Animal Medicine, College of Veterinary Medicine, Kyungpook National University) ;
  • Bae, Jae-Sung (Department of Physiology, Cell and Matrix Research Institute, School of Medicine, Kyungpook National University) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 정지원 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 서고훈 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 오아름 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 진희경 (경북대학교 수의과대학 실험동물의학교실) ;
  • 배재성 (경북대학교 의과대학 생리학교실) ;
  • 김구환 (서울아산병원 의학유전학센터) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년과)
  • Published : 2018.04.30
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Abstract

Niemann Pick type C disease (NPC) is an inherited progressive neurodegenerative disorder, due to defects of intracellular lipid trafficking and storage. Hepatosplenomegaly may prevail, while progressive neurodegenerative symptoms such as cerebellar involvement, dystonia, vertical supranuclear ophthalmoplegia, cataplexy, and eventually seizures starting at juvenile or late infantile period may accompany after normal early development. Here we describe a 3-year-old Korean boy with NPC who presented with splenomegaly at age 3. Liver biopsy showed characteristic foamy cell stained by periodic acid-schiff, and molecular analysis for NPC1 identified the compound heterozygous mutations, novel mutation of c.1631G>A (p.Trp544Ter) and c.2662C>T (p. Pro888Ser) as a known mutation. Filipin was strongly stained with unesterified cellular cholesterol in the patient's skin fibroblasts. The patient has received migulstat since age 3 years and his long-term outcome is needed to be observed.

C형 Niemann-Pick 병은 NPC1 및 NPC2 유전자의 돌연변이로 인해 발생하며 상염색체 열성으로 유전된다. 신생아 간염 및 간비비대로 발현하며 안구의 수직운동 마비, 조화운동불능, 근육긴장이상, 경련 등의 신경학적 증상이 서서히 발현 하는 것을 특징으로 한다. 저자들은 복부 팽만 및 심한 비장비대로 입원한 3세 남아에서 간 조직 검사 및 유전자 검사, 섬유모세포의 Filipin 염색으로 확진 된 C형 Niemann-Pick 병 1례를 보고하는 바이다.

Keywords

References

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