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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease

Preferred term

Canavan Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Canavan van Bogaert Bertrand Disease
  • Canavan-van Bogaert-Bertrand Disease
  • Disease, Canavan-van Bogaert-Bertrand
  • Disease, Von Bogaert-Bertrand
  • Leukodystrophy, Spongiform
  • Spongiform Leukodystrophy
  • Spongy Degeneration Of Central Nervous System
  • Spongy Degeneration of Infancy
  • Spongy Degeneration of the Brain
  • Spongy Degeneration of the Central Nervous System
  • Spongy Degeneration of White Matter In Infancy
  • Spongy Disease of Central Nervous System
  • Spongy Disease of White Matter
  • Syndrome, Van Bogaert-Bertrand
  • Van Bogaert Bertrand Syndrome
  • Van Bogaert-Bertrand Syndrome
  • Von Bogaert Bertrand Disease
  • Von Bogaert-Bertrand Disease

Note

  • do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS

Scope note

  • 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)

History note

  • 94

In other languages

  • Canavanin tauti

    Finnish

  • Canavan
  • Canavan-van Bogaert-Bertrand
  • Canavan-van Bogaert-Bertrandin tauti
  • Canavanin sairaus
  • morbus Canavan
  • morbus Canavan-van Bogaert-Bertrand
  • spongiforminen leukodystrofia
  • Canavans sjukdom

    Swedish

  • Aspartoacylasbrist
  • Canavans leukodystrofi
  • Spongiform leukodystrofi

URI

http://www.yso.fi/onto/mesh/D017825

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