title: [Megalencephaly with dystonia revealing Canavan disease].
abstract: Canavan disease, or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The disease results from the accumulation of N-acetyl aspartic acid in the brain, due to aspartoacylase deficiency. We report the case of a 6-month-old girl who presented with megalencephaly, peripheral hypertonia, and a developmental delay noticeable after 4 months of age. Magnetic resonance imaging of the brain with spectroscopy was suggestive of Canavan disease, which was confirmed by chromatography of urinary organic acids.
authors.affiliation: Service de pédiatrie générale, hôpital Hédi-Chaker, avenue Majida-Boulila, 3029 Sfax, Tunisie. maaloul.ines@hotmail.fr
authors.forename: I
authors.initials: I
authors.lastname: Maaloul
authors.forename: H
authors.initials: H
authors.lastname: Fourati
authors.forename: M
authors.initials: M
authors.lastname: Wali
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.forename: T
authors.initials: T
authors.lastname: Kamoun
authors.forename: Z
authors.initials: Z
authors.lastname: Mnif
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D001224:Aspartic Acid / Q000652:urine; D001921:Brain / Q000473:pathology; D017825:Canavan Disease / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000209:etiology; D004421:Dystonia / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D058627:Megalencephaly / Q000209:etiology*
chemical_list: D001224:Aspartic Acid