title: [Canavan disease or N-acetyl aspartic aciduria: a case report].
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.
authors.affiliation: Service de pédiatrie, CHU Farhat-Hached, avenue Ibn-El-Jazzar, 4000 Sousse, Tunisie. lamia_boughamoura@yahoo.fr
authors.forename: L
authors.initials: L
authors.lastname: Boughamoura
authors.forename: F
authors.initials: F
authors.lastname: Chaabane
authors.forename: S
authors.initials: S
authors.lastname: Tilouche
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.forename: N
authors.initials: N
authors.lastname: Kabachi
authors.forename: K
authors.initials: K
authors.lastname: Tlili
authors.forename: M
authors.initials: M
authors.lastname: Yacoub
authors.forename: A-S
authors.initials: AS
authors.lastname: Essoussi
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D001921:Brain / Q000473:pathology*; D017825:Canavan Disease / Q000175:diagnosis*; D003937:Diagnosis, Differential; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate