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)

Descriptor ID	D017825
MeSH Number(s)	C10.228.140.163.100.362.375 C10.228.140.695.625.375 C10.314.400.375 C10.574.500.300 C16.320.400.150 C16.320.565.189.362.375 C18.452.132.100.362.375 C18.452.648.189.362.375
Concept/Terms	Canavan Disease Canavan Disease Disease, Canavan Leukodystrophy, Spongiform Spongiform Leukodystrophy Spongy Degeneration Of Central Nervous System Spongy Degeneration of Infancy Spongy Degeneration of the Brain Spongy Degeneration of White Matter In Infancy Spongy Disease of Central Nervous System Spongy Disease of White Matter Van Bogaert-Bertrand Syndrome Syndrome, Van Bogaert-Bertrand Van Bogaert Bertrand Syndrome Von Bogaert-Bertrand Disease Disease, Von Bogaert-Bertrand Von Bogaert Bertrand Disease Canavan-van Bogaert-Bertrand Disease Canavan van Bogaert Bertrand Disease Disease, Canavan-van Bogaert-Bertrand Spongy Degeneration of the Central Nervous System Canavan Disease, Familial Form Canavan Disease, Familial Form Familial Form of Canavan Disease Canavan Disease, Infantile Canavan Disease, Infantile Infantile Canavan Disease Type II Canavan Disease Canavan Disease, Type II Canavan Disease, Neonatal Canavan Disease, Neonatal Neonatal Canavan Disease Type I Canavan Disease Canavan Disease, Type I Canavan Disease, Sporadic Form Canavan Disease, Sporadic Form Sporadic Form of Canavan Disease Aminoacylase 2 Deficiency Aminoacylase 2 Deficiency Deficiency Disease, Aspartoacylase ASPA Deficiency Aspartoacylase Deficiency ACY2 Deficiency ASP Deficiency Canavan Disease, Juvenile Canavan Disease, Juvenile Juvenile Canavan Disease Type III Canavan Disease Canavan Disease, Type III

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