Arch Pediatr. 2007 Feb;14(2):173-6. Epub 2006 Dec 28.

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

[Article in French]

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

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Service de pédiatrie, CHU Farhat-Hached, avenue Ibn-El-Jazzar, 4000 Sousse, Tunisie. lamia_boughamoura@yahoo.fr

Abstract

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.

PMID:: 17196380; [PubMed - indexed for MEDLINE]

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