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EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report
Ilaria Filareto1, Giulia Cinelli1, Ilaria Scalabrini1
1Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, Largo del Pozzo, 71 - 41124, Modena, Italy.
Italian Journal of Pediatrics
|July 27, 2022
Summary
Vanishing white matter disease (VWM) is a rare neurological disorder. This case highlights a severe infantile form with early seizures and hypomyelination, emphasizing the need for better understanding and treatment strategies.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease.
- Pathophysiology involves astrocyte maturation impairment, leading to white matter susceptibility to cellular stress.
- Caused by mutations in genes encoding translation initiation factor eIF2B, with five classified types based on onset age.
Observation:
- A 4-month-old boy presented with early seizures and recurrent hypoglycemia.
- Brain MRI revealed a total absence of myelination, suggesting hypomyelination leukoencephalopathy.
- Whole exome sequencing identified a homozygous variant in the EIF2B2 gene (p.Val308Met).
Findings:
- The patient experienced polymorphic epileptic seizures, including complex partial seizures and status epilepticus.
- Infantile and early childhood VWM forms exhibit chronic progressive neurological decline and rapid worsening episodes.
- Prognosis is poor, with death often occurring within months to years.
Implications:
- The clinical presentation of epilepsy in VWM is not well-documented, lacking detailed seizure information.
- This case underscores the severe neurological manifestations and poor prognosis of infantile VWM.
- There are currently no reported therapeutic strategies for VWM disease, highlighting an urgent need for research and intervention development.
