Vanishing white matter disease associated with ptosis and myoclonic seizures

Area of Science:

• Pediatric Neurology
• Neurogenetics
• Rare Diseases

Background:

• Vanishing white matter disease (VWW) is a severe, early-onset leukodystrophy.
• It is characterized by progressive neurological decline and often has a fatal outcome.

Observation:

• A 5-year-old boy presented with progressive ataxia, neuroregression, and exacerbation with fevers.
• Clinical symptoms included myoclonic jerks and ptosis.
• Brain MRI revealed extensive cerebral white matter abnormalities, including rarefaction and cystic degeneration.

Findings:

• The patient exhibited a clinical presentation consistent with vanishing white matter disease.
• Genetic testing identified compound heterozygous, novel mutations in the EIF2B5 gene.
• These mutations confirmed the diagnosis of vanishing white matter disease.

Implications:

• This case expands the known spectrum of EIF2B5 mutations associated with vanishing white matter disease.
• Early diagnosis through genetic testing is crucial for understanding and managing this rare leukodystrophy.
• Further research into EIF2B5 gene function may offer therapeutic targets.