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Published on: May 18, 2010
[Leukoencephalopathy with vanishing white matter: A case report]
V San Antonio-Arce1, D Martín Fernández-Mayoralas, N Muñoz-Jareño
1Departamento de Neuropediatría, Hospital Clinico San Carlos, 28040 Madrid, España.
Revista De Neurologia
|October 31, 2006
Summary
Leukoencephalopathy with vanishing white matter, a rare genetic disorder, is caused by mutations in the translation initiation factor eIF2B. Early MRI diagnosis is crucial for genetic counseling and prognosis.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder.
- Mutations in the five genes encoding translation initiation factor eIF2B subunits cause VWM.
- The clinical spectrum of VWM is broader and more frequent than initially recognized.
Observation:
- A 5-year-old female presented with worsening gait instability after head trauma.
- Cerebellar ataxia and generalized spasticity were observed.
- MRI revealed diffuse white matter involvement with cerebrospinal fluid-like cavities.
Findings:
- Genetic analysis identified a mutation in the eIF2B-epsilon gene.
- The patient exhibited the classical clinical form of VWM.
Implications:
- Suggestive MRI findings can aid in ruling out eIF2B mutations.
- Early diagnosis facilitates genetic counseling and prognosis.
- Genotype-phenotype correlations are essential for patient management.
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