Çisem Duman KAYAR, Ceyda ÖNEY, Fulya KÜREKÇİ, Esma Nur KONUR AKBAŞ, Mehmet Emin MENENTOĞLU, Ayça Dilruba ASLANGER, Esra ŞEVKETOĞLU, Hülya MARAŞ GENÇ, Edibe Pembegül YILDIZ
Turkish Archives of Pediatrics - 2026;61(4):357-360
Vanishing white matter (VWM) disease is one of the most common leukodystrophies, with an estimated incidence of 1 in 80 000 live births. It is inherited in an autosomal recessive manner and caused by variants in genes encoding subunits of the eukaryotic translation initiation factor 2B (eIF2B1-5), which plays a crucial role in protein translation and regulation of the integrated stress response. The disease has a chronic and progressive course with antenatal, infantile, and juvenile forms reported. While spasticity and ataxia are common findings, the infantile form may present with varying degrees of motor disability, refractory seizures, encephalopathy, optic atrophy, or even death. Later-onset juvenile and adult forms may be associated with mild cognitive impairment, psychiatric symptoms, and ovarian failure. Clinically, disease episodes are often triggered by stress factors such as febrile infections, vaccinations, and minor head trauma. Currently, there is no definitive treatment.
