Type II Canavan Disease Definition
Type II Canavan Disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Synonym: aspartoacylase deficiency disease, type iii canavan disease, type i canavan disease, sporadic form canavan disease, spongiform leukodystrophy, neonatal canavan disease, juvenile canavan disease, infantile canavan disease, familial form of canavan disease, familial form canavan disease, canavan van bogaert bertrand disease, canavan disease, sporadic form of canavan disease, spongy disease of white matter, spongy disease of central nervous system, spongy degeneration of infancy.
Additional tags: canavan of type autosomal