Vanishing white matter disease
- Synonyms
- CACH syndrome; CACH/VWM syndrome; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Childhood ataxia with diffuse central nervous system hypomyelination; Cree leukoencehalopathy; EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Leukoencephalopathy with vanishing white matter; Myelinosis centralis diffusa
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset ≥18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Marjo S van der Knaap
- Anne Fogli
- Odile Boespflug-Tanguy
- view full author information
Available tests
106 tests are in the database for this condition.
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