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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

저나트륨혈증성 탈수증으로 진단된 소아 부신백질이영양증 1례

A Case of Adrenoleukodystrophy Diagnosed as Hyponatremic Dehydration

  • 이상헌 (인하대학교 의과대학 소아과학교실) ;
  • 김형진 (인하대학교 의과대학 소아과학교실) ;
  • 권영세 (인하대학교 의과대학 소아과학교실) ;
  • 김순기 (인하대학교 의과대학 소아과학교실) ;
  • 이지은 (인하대학교 의과대학 소아과학교실)
  • Lee, Sang Heon (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kim, HyungJin (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kwon, Young-Se (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kim, Soon-Ki (Department of Pediatrics, College of Medicine, Inha University) ;
  • Lee, Ji-Eun (Department of Pediatrics, College of Medicine, Inha University)
  • 발행 : 2014.06.30
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초록

X-linked adrenoleukodystrophy (ALD) is a uncommon metabolic disorder which derived by peroxismal ${\beta}$-oxidation and elevation of serum very long chain fatty acid (VLCFA). VLCFA is mainly accumulated in the myelin of the central nervous system and adrenal cortex, by which the expressed symptoms of this disease are mainly neurologic and endocrinologic (such as adrenal insufficiency). The mutations in the ABCD1 gene causes X-linked ALD, nevertheless its phenotypes and genotypes are poorly coordinated. We report the case of a 12-year-old boy with X-linked ALD who developed vomiting, fatigue and poor oral intake. Severe dehydration and hyponatremia were found in initial physical examination and laboratory test, but his motor/sensory nerve function and mental status were completely normal. We diagnosed ALD with diffuse high-intensity signal in both parietotemporal cerebellar white matter in brain MRI and elevated serum VLCFA. Later, we confirmed a novel c.1635-1G>A (IVS6-1G>A) mutations of the ABCD1 gene. With the discrepancy between its phenotypes and genotypes, various phenotypes could be seen in X-ALD patient. Careful examination and further studies for these patients will be needed.

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참고문헌

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