Other terms
Canavan-van Bogaert-Bertrand Disease,Bogaert-Bertrand Disease, Canavan-van,Canavan van Bogaert Bertrand Disease,Spongy Degeneration of Infancy,Spongy Disease of White Matter,Deficiency Disease, Aspartoacylase,Aspartoacylase Deficiency Disease,Aspartoacylase Deficiency Diseases,Deficiency Diseases, Aspartoacylase,Disease, Aspartoacylase Deficiency,Diseases, Aspartoacylase Deficiency,Spongy Disease of Central Nervous System,Leukodystrophy, Spongiform,Leukodystrophies, Spongiform,Spongiform Leukodystrophies,Spongiform Leukodystrophy,Canavan Disease, Sporadic Form,Sporadic Form of Canavan Disease,Canavan Disease, Juvenile,Juvenile Canavan Disease,Type III Canavan Disease,Canavan Disease, Type III,Canavan Disease, Familial Form,Familial Form of Canavan Disease,Canavan Disease, Infantile,Infantile Canavan Disease,Type II Canavan Disease,Canavan Disease, Type II,Canavan Disease, Neonatal,Neonatal Canavan Disease,Type I Canavan Disease,Canavan Disease, Type I
Description
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)
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