[Canavan disease or N-acetyl aspartic aciduria: a case report].

L Boughamoura, F Chaabane, S Tilouche, I Chabchoub, N Kabachi, K Tlili, M Yacoub, A-S Essoussi

文献索引：Arch. Pediatr. 14 , 173-176, (2007)

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摘要

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.