Spongy degeneration of the white matter (canavan disease; van bogaert-bertrand syndrome)

General: Neurologic disorder of childhood; Jews; familial; autosomal recessive; this is a severe leukodystro 111b15b phy caused by the deficiency of aspartoacylase (ASPA) and accumulation of N-acetylaspartic acid; a missense mutation recently was identified in the human ASPA coding sequence from patients with this disorder.

Ocular: Optic atrophy; nystagmus; strabismus; roving eye movements.

Clinical: Progressive megalocephaly; psychomotor deterioration; death.

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Fenichel GM. Spongy degeneration of infancy (Canavan). In: Fenichel GM, ed. Clinical pediatric neurology, 2nd ed. Philadelphia: WB Saunders, 1993:136.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

Kaul R, et al. Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. Genomics 1994; 21:364-370.

Matalon R, et al. Canavan disease: biochemical and molecular studies. J Inherit Metab Dis 1993; 16:744-752.