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Descriptor English: Canavan Disease
Descriptor Spanish: Enfermedad de Canavan
Descriptor enfermedad de Canavan
Scope note: Afección neurodegenerativa infrecuente de la lactancia o infancia que se caracteriza por vacuolización de la sustancia blanca, lo que da lugar a un aspecto esponjoso. La deficiencia de aspartoacilasa lleva a una acumulación de N-acetilaspartato en los astrocitos. La herencia puede ser autosómica recesiva o la enfermedad puede ser esporádica. Esta enfermedad ocurre con mayor frecuencia en individuos de descendencia judía Ashkenazy. La forma neonatal se caracteriza por hipotonía y letargia al nacer, que progresa rápidamente al coma y muerte. La forma infantil se caracteriza por retraso del desarrollo, DISCINESIAS, hipotonía, espasticidad, ceguera y megaloencefalia. La forma juvenil se caracteriza por ATAXIA, ATROFIA ÓPTICA y DEMENCIA. (Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Descriptor Portuguese: Doença de Canavan
Descriptor French: Maladie de Canavan
Entry term(s): 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
Tree 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D017825
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)
Annotation: do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Cerebral Sclerosis, Diffuse (1981-1993)
Demyelinating Diseases (1967-1993)
Public MeSH Note: 94
History Note: 94
DeCS ID: 31602
Unique ID: D017825
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1994/01/01
Date of Entry: 1993/02/16
Revision Date: 2013/07/08
Canavan Disease - Preferred
Concept UI M0026932
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)
Preferred term Canavan Disease
Entry term(s) Canavan van Bogaert Bertrand Disease
Canavan-van Bogaert-Bertrand Disease
Disease, Canavan
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 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
Syndrome, Van Bogaert-Bertrand
Van Bogaert Bertrand Syndrome
Van Bogaert-Bertrand Syndrome
Von Bogaert Bertrand Disease
Von Bogaert-Bertrand Disease
Canavan Disease, Familial Form - Narrower
Concept UI M0336605
Preferred term Canavan Disease, Familial Form
Entry term(s) Familial Form of Canavan Disease
Canavan Disease, Infantile - Narrower
Concept UI M0336606
Preferred term Canavan Disease, Infantile
Entry term(s) Canavan Disease, Type II
Infantile Canavan Disease
Type II Canavan Disease
Canavan Disease, Neonatal - Narrower
Concept UI M0336608
Preferred term Canavan Disease, Neonatal
Entry term(s) Canavan Disease, Type I
Neonatal Canavan Disease
Type I Canavan Disease
Canavan Disease, Sporadic Form - Narrower
Concept UI M0336609
Preferred term Canavan Disease, Sporadic Form
Entry term(s) Sporadic Form of Canavan Disease
Aminoacylase 2 Deficiency - Related but not broader or narrower
Concept UI M0584785
Preferred term Aminoacylase 2 Deficiency
Entry term(s) ACY2 Deficiency
ASP Deficiency
ASPA Deficiency
Aspartoacylase Deficiency
Deficiency Disease, Aspartoacylase
Canavan Disease, Juvenile - Narrower
Concept UI M0336607
Preferred term Canavan Disease, Juvenile
Entry term(s) Canavan Disease, Type III
Juvenile Canavan Disease
Type III Canavan Disease



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