Canavan's disease. Infantile spongy degeneration. Aspartoacylase deficiency.
Incidence
Autosomal recessive. More than 200 cases reported, many from Saudi Arabia. AR condition. Prevalent in Ashkenazi Jews and Arabs.
Clinical Characteristics
Macrocephaly, Severe leukodystrophy diffuse. Developmental delay, pyramidal tract signs, It is a slowly progressive disease. The salient clinical features of Canavan disease are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. The neurologic findings are due to demyelination and leukodystrophy. Neuropathologic changes include spongy degeneration and astrocytic swelling with normal neurons.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, OB, DB-F, Urine GC/MS. N-Acetylaspartic acid.