Canavan syndrome is an inherited metabolic disorder secondary to mutations in the aspartoacylase gene.


Inheritance: autosomal recessive


Gene: aspartoacylase gene on 17p13


The disorder can be found in Ashkenazi Jews and other groups.


Clinical features in severe disease:

(1) onset during infancy

(2) poor head control

(3) macrocephaly

(4) severe developmental delay

(5) optic atrophy

(6) seizures

(7) hypertonia

(8) death during childhood


Less severe forms may occur that result in moderate developmental delay.


Laboratory features:

(1) increased N-acetylaspartic acid in the urine

(2) decreased aspartoacylase activity in cultured skin fibroblasts


Neuropathologic findings:

(1) spongy degeneration in the white matter

(2) vacuolization of the myelin sheath

(3) swelling of astrocytes

(4) deformed mitochondria


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