Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.
This is a report of two patients with Canavan disease from the Federal Republic of Germany. One is a severely retarded, macrocephalic boy, who had the characteristic laboratory findings of Canavan disease and progressive leucodystrophy on neuro-imaging. The other is retarded, with signs of a cerebral movement disorder showing no deterioration during the first 15 months. The significance of aspartoacylase deficiency in Canavan disease for differential diagnosis, genetic counselling and prenatal diagnosis of leucodystrophy is discussed.
Kinderklinik der FU Berlin (KAVH).
A
A
von Moers
J
J
Sperner
T
T
Michael
D
D
Scheffner
R H
RH
Schutgens
D000581:Amidohydrolases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male
D000581:Amidohydrolases; C019751:aspartoacylase