[Canavan disease or N-acetyl aspartic aciduria: a case report].
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.
Boughamoura
L
L
Service de pédiatrie, CHU Farhat-Hached, avenue Ibn-El-Jazzar, 4000 Sousse, Tunisie. lamia_boughamoura@yahoo.fr
Chaabane
F
F
Tilouche
S
S
Chabchoub
I
I
Kabachi
N
N
Tlili
K
K
Yacoub
M
M
Essoussi
A-S
AS
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
D001224:Aspartic Acid; C000179:N-acetylaspartate