[MIM 271 900]

(Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency, spongy degeneration of central nervous system syndrome, aminoacylase deficiency 2)

Very rare. Autosomal recessive transmission. Some mutations are more common in the  Jewish Ashkenazi population. Progressive leukodystrophy due to aspartoacylase deficiency (17p13-ter). This enzyme allows the degradation of N-acetyl-aspartic acid, that is only present in the brain and could play an important role in neuronal  and neuroglial osmoregulation.

There are 3 forms:

-         infantile: the most common; developmental delay starting at 3 to 6 months of age, hypotonia and spasticity, macrocephaly, epilepsy; death between 10 and 20 years of age

-         congenital (20 %): onset in the first weeks of life and rapid deterioration

-         juvenile: normal development until 4-5 years of age, then progressive neurological deterioration.

Diagnosis: N-acetylaspartic acid in the urine.

Anesthetic implications: 

Epilepsy, multi-handicapped child.

References : 

-         Maaloul I, Fourati H, Wali M, Chabchoub I et al. 
Macrocéphalie avec dystonie révélant une maladie de Canavan. 
Arch Pédiatr 2013 ; 20 : 783-6.

Updated: November 2019