Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.
Canavan disease (CD) or N-acetylaspartic aciduria (NAA) is a severe, progressive, autosomal recessive leukodystrophy, occurring mainly among Ashkenazi Jewish individuals. We report clinical and MRI findings in two, non-Jewish, Greek siblings, 7 and 5 years, respectively, with a protracted form of NAA. The constellation of identical clinical course and identical MRI findings with involvement of the basal ganglia, the brainstem, the dentate nucleus and the subcortical white matter in both siblings, as well as the absence of the three commonest mutations found in both Jewish and non-Jewish CD patients, give support to the existence of a protracted form of NAA with a milder clinical course, presumably genetically determined.
Zafeiriou
D I
DI
First Pediatric Clinic, Aristotle University of Thessaloniki, Greece. jeff@med.auth.gr
Kleijer
W J
WJ
Maroupoulos
G
G
Anastasiou
A L
AL
Augoustidou-Savvopoulou
P
P
Papadopoulou
F
F
Kontopoulos
E E
EE
Fagan
E
E
Payne
S
S
D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D001921:Brain / Q000473:pathology*; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D005006:Ethnicity; D016057:Evoked Potentials, Auditory, Brain Stem; D019054:Evoked Potentials, Motor; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007585:Jews; D008279:Magnetic Resonance Imaging; D009431:Neural Conduction
D001224:Aspartic Acid; C000179:N-acetylaspartate