spongy degeneration of infancy

spongy degeneration of infancy

Canavan-Van Bogaert-Bertrand disease An AR condition characterized by diffuse vacuolization of the deep cerebral cortex, predominantly affecting the white matter, but also the gray matter, caused by hydropic degeneration of the glia and myelin Clinical Onset in early infancy with hypotonia and poor head control, hyperextension of legs and flexion of arms, optic atrophy and blindness, severe mental retardation, rigidity, hyperreflexia, seizures and progressive macrocephaly; death occurs by 18 months of age. Cf Leukodystrophy.