Boughamoura L, Chaabane F, Tilouche S, Chabchoub I, Kabachi N, Tlili K, Yacoub M, Essoussi A-S
Service de pédiatrie, CHU Farhat-Hached, avenue Ibn-El-Jazzar, 4000 Sousse, Tunisie.
Arch Pediatr. 2007 Feb;14(2):173-6. doi: 10.1016/j.arcped.2006.10.021. Epub 2006 Dec 28.
Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry.
卡纳万病或N-乙酰天门冬氨酸尿症，是一种常染色体隐性遗传的脑白质营养不良，其特征为脑的海绵状变性。该疾病是一种先天性代谢缺陷，由天冬氨酸酰基转移酶缺乏引起，导致N-乙酰天门冬氨酸在脑内蓄积。作者报告了一例10个月大男孩的病例，该男孩在4个月大后出现发育迟缓及巨头症。脑部磁共振成像显示弥漫性白质变性。通过核磁共振波谱法和气相色谱-质谱联用技术确诊为卡纳万病。
