부신백질이영양증의 임상적, 생화학적 소견 및 뇌자기공명영상 소견

• 영문명: A CLINICAL STUDY ON ADRENOLEUKODYSTROPHY
• 발행기관: 대한소아신경학회
• 저자명: 유지숙(Jee Suk Yu) 김기중(Ki Joong Kim) 고태성(Tae Seong Ko) 이백희(Baeck Hee Lee) 황세희(Se Hee Hwang) 황용승(Yong Seung Hwang) 김인원(Kim In One) 지제근(Je Geun Chi)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제1권 제1호, 50~63쪽, 전체 14쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1993.09.20

영문 초록

Seven cases of adrenoleukodystrophy who were diagnosed in the Department of Pediatrics, Seoul National University Hospital from January 1985 to April 1993 were reviewed. The results were as follows: 1) All of the patients were male and the onset of symptoms was between 5 and 13 years of age. They were all classified as X-liked childhood adrenoleukodystrophy. 2) The initial symptoms were behavior change, visual disturbance, skin pigmentation poor school perfomance and gait disturbance. 3) Skin pigmentation was noticed in 3 cases which showed elevated plasma ACTH level on ACTH stimulation test, the cortisol levels were not stimulated. One case out of 4 cases having no hypoadrenal symptoms showed no response to ACTH stimulation test. 4) Elevated CSF IgG and protein levels were noticed in 4 cases of 7(57%) and 4 cases out of 6(67%), respectively. 5) There is no correlation between the evoked potentials and the subjective visual and auditory disturbance. 6) There is correlation between the involved sites on brain MRI and the clinical manifestations. 7) Brain MRI showed typically bilateral, symmetrical hyperintense areas in the periventricular white matter of parieto-occipital areas in 5 cases out of 7 cases, One case showed frontal lobe involvement only without occipital lobe and another case showed multiple patch involvement in the internal capsules and thalamus. 8) Management was including restriction of saturated VLCFA in diet, steroid therapy, physiotherapy, IV globulin, and Lorenzo oil. Clinical courses were not reversed. In conclusion, we could confirm adrenoleukodystrophy using plasma VLCFA assay without brain biopsy, and earlier diagnostic approach was possible owing to brain MIR.

키워드

Adrenoleukodystrophy VLCFA(very-long-chain faty acids) Brain MRI. Lorenzo oil