LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER: A CASE REPORT

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Leukoencephalopathy with vanishing white matter (LVWM) is a rare, autosomal recessive genetic disorder.
• It primarily affects children and is characterized by progressive white matter degeneration in the brain.

Observation:

• A 5-month-old infant presented with feeding refusal, somnolence, dehydration, and fever.
• Magnetic resonance imaging revealed diffuse, symmetrical white matter signal alterations.
• The infant experienced seizures, recurrent fever, extreme sleepiness, and ultimately progressed to a comatose state and death.

Findings:

• The diagnosis of LVWM was confirmed post-mortem.
• Genetic analysis identified a pathogenic mutation in a gene encoding eukaryotic translation initiation factor 2B (eIF2B).
• This mutation is implicated in the control of protein translation, leading to the disease.

Implications:

• This case underscores the severe and progressive nature of LVWM.
• It highlights the challenges in early diagnosis due to non-specific initial symptoms.
• Emphasizes the importance of genetic testing for rare pediatric neurological disorders.