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Vanishing white matter disease associated with progressive macrocephaly.
M Pineda1, A R-Palmero, M Baquero
1Neurology Department, Hospital Sant Joan de Deu and Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain. pineda@hsjdbcn.org
Neuropediatrics
|May 28, 2008
Summary
Vanishing white matter disease, a common childhood leukoencephalopathy, is caused by mutations in translation initiation factor eIF2B genes. This case highlights a patient with a novel EIF2B5 mutation and progressive deterioration.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Vanishing white matter disease (VWM) is a frequent inherited childhood leukoencephalopathy.
- It is caused by mutations in the five genes (EIF2B1-5) encoding translation initiation factor eIF2B.
- VWM follows an autosomal recessive inheritance pattern with variable clinical severity and age of onset.
Observation:
- A female patient presented with early-onset VWM at two years of age.
- She exhibited progressive neurological and radiological deterioration.
- An unusual clinical feature was the patient's significant macrocephaly.
Findings:
- The patient harbored a common and a novel mutation in the EIF2B5 gene.
- Magnetic resonance imaging (MRI) findings confirmed the diagnosis.
- Molecular studies identified the specific EIF2B5 gene mutations.
Implications:
- This case expands the mutational spectrum of the EIF2B5 gene in VWM.
- Understanding genotype-phenotype correlations is crucial for VWM diagnosis and management.
- Long-term survival into adulthood is possible in some VWM cases, necessitating ongoing care strategies.
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