Canavan Disease 1례

• 영문명: A Case of Canavan Disease
• 발행기관: 대한소아신경학회
• 저자명: 윤소영(So-Young Yoon) 김정호(Jeong-Ho Kim) 고태성(Tae-Sung Ko) 최충곤(Choong-Kon Choi) 공경엽(yeong-Yeop Kong)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제5권 제1호, 159~166쪽, 전체 8쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1997.10.20

영문 초록

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.

키워드

Canavan disease-N-acetylaspartate(NAA)-MR spectroscopy