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색소 과다 침착만으로 조기 발견한 소아 부신백질이영양증 1례  

Park, Seon-Hyeong (순천향대학교 부천병원 소아청소년과)
Hong, Yong-Hui (순천향대학교 부천병원 소아청소년과)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.2, 2014 , pp. 195-199 More about this Journal
Abstract
The X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease by defects of ABCD1 gene on chromosome Xq28 leading to accumulation of saturated very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. A 4-year-old boy was visited hospital with the chief compliant of hyperpigmentation beginning at 2-years old. Serum adrenocorticotropic hormone (ACTH) and cortisol concentration were compatible with adrenal insufficiency. The elevated plasmatic concentration of VLCFA and genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed no abnormal high signal intensity on the white matter. Steroid replacement was started with good response. He initiated Lorenzo's oil with restriction of VLCFA by reducing the intake of fatty foods. The author highlight the importance of suspecting of X-ALD in the etiology of primary adrenal insufficiency as the first sign of the disease.
Keywords
Adrenoleukodsydrophy; Adrenal insufficiency; Addison's disease;
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