Canavan Disease
ACY2 Deficiency
ASP Deficiency
ASPA Deficiency
Aminoacylase 2 Deficiency
Aspartoacylase Deficiency
Canavan Disease, Familial Form
Canavan Disease, Infantile
Canavan Disease, Juvenile
Canavan Disease, Neonatal
Canavan Disease, Sporadic Form
Canavan Disease, Type I
Canavan Disease, Type II
Canavan Disease, Type III
Canavan van Bogaert Bertrand Disease
Canavan-van Bogaert-Bertrand Disease
Deficiency Disease, Aspartoacylase
Disease, Canavan
Disease, Canavan-van Bogaert-Bertrand
Disease, Von Bogaert-Bertrand
Familial Form of Canavan Disease
Infantile Canavan Disease
Juvenile Canavan Disease
Leukodystrophy, Spongiform
Neonatal Canavan Disease
Spongiform Leukodystrophy
Spongy Degeneration Of Central Nervous System
Spongy Degeneration of Infancy
Spongy Degeneration of White Matter In Infancy
Spongy Degeneration of the Brain
Spongy Degeneration of the Central Nervous System
Spongy Disease of Central Nervous System
Spongy Disease of White Matter
Sporadic Form of Canavan Disease
Syndrome, Van Bogaert-Bertrand
Type I Canavan Disease
Type II Canavan Disease
Type III Canavan Disease
Van Bogaert Bertrand Syndrome
Van Bogaert-Bertrand Syndrome
Von Bogaert Bertrand Disease
Von Bogaert-Bertrand 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)