Structured Summary
Abstract
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)
MeSH Record
Classification
Related Concepts
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MeSH Record
Synonyms
41 entry terms
- Canavan-van Bogaert-Bertrand Disease
- Leukodystrophy, Spongiform
- 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
- Van Bogaert-Bertrand Syndrome
- Von Bogaert-Bertrand Disease
- Canavan van Bogaert Bertrand Disease
- Disease, Canavan
- Disease, Canavan-van Bogaert-Bertrand
- Disease, Von Bogaert-Bertrand
- Spongiform Leukodystrophy
- Syndrome, Van Bogaert-Bertrand
- Van Bogaert Bertrand Syndrome
- Von Bogaert Bertrand 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
- Deficiency Disease, Aspartoacylase
- Familial Form of Canavan Disease
- Infantile Canavan Disease
- Juvenile Canavan Disease
- Neonatal Canavan Disease
- Sporadic Form of Canavan Disease
- Type I Canavan Disease
- Type II Canavan Disease
- Type III Canavan Disease
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS
MeSH Record
History Note
94
MeSH Record
Previous Indexing
- Cerebral Sclerosis, Diffuse (1981-1993)
- Demyelinating Diseases (1967-1993)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Canavan Disease. Medical Subject Headings (MeSH). 2026. Unique ID D017825. http://id.nlm.nih.gov/mesh/2026/D017825
- Canavan Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Canavan_disease
- Canavan Disease. In: Wikidata. https://www.wikidata.org/wiki/Q2349546