Refractory Seizures,a Manifestation of Vanishing White Matter Disease

Vanishing white matter disease (VWM) is an autosomal recessive leukoencephalopathy that slowly progresses during childhood period with episodes of neurologicaldeterioration. Lower age of onset is along with worse prognosis. This genetic disorder is due to mutation of eukaryotic translation inhibition factor ۲B (Elf۲B and its subunits B۱- ۵) gene that encodes production of proteins during stressful situations such as trauma and infections. Clinical manifestations is included psychomotor delay, ataxia, spasticity, optic atrophy, opsoclonus myoclonus syndrome, seizures and death. Adult onset disease is rare with milder progression. We reported a case of VWM disease who presented with refractory seizures. She was born from an uneventful cesarean section, consanguineous marriage. Attacks was started after age of four months as tonic, myoclonic and staring seizures. Gradually she regressed to poor head control, didn’t have normal fix and fallow and auditory attention. There was intermittent altered level of consciousness even after controlling the seizures. Skin was normal and no organomegaly was detected. Deep tendon reflexes was mildly exaggerated. All data including routine hematologic measures, blood sugar, electrolytes, urine analysis, venous blood gases, serum lactate, ammonia, pyruvate, serum and urine amino acid chromatography, carnitine profile and urine organic acids was in normal limits. In electroencephalography (EEG) nonspecific changes was seen. Brain MRI showed diffused white matter involvement. Whole exome sequencing for patient was performed and detected a homozygot pathogenic variant in Elf۲B۴ gene. Parents weren’t evaluated for being heterozygote for this gene because of financial problems. Seizures became poor controlled and patient dead at age of eight months with sepsis like syndrome. There are variety of manifestations for VWM from a simple motor delay to severely progressive disease. Poor prognosis can occur in cases with earlier onset of disease specially with refractory seizures.

کلیدواژه ها:

Seizure ، Vanishing White Matter Disease.