The clinical course of Canavan disease

EC Traeger, I Rapin - Pediatric neurology, 1998 - Elsevier
Canavan, an autosomal-recessive neurodegenerative disease, is caused by a deficiency of
aspartoacylase. Most children are reported to have the infantile form, becoming symptomatic
between 3 and 6 months of age, after an unremarkable prenatal and perinatal course.
Congenital and juvenile onset forms, although uncommon, do occur. We collected clinical
information from the parents of 60 children diagnosed with Canavan disease and reviewed
the literature. We conclude that Canavan disease is prenatal in onset with variability in …