Case presentation A two-year-old girl, born at term via lower segment cesarean section to non-consanguineous parents, was brought to the pediatric department with a history of recurrent seizures beginning at four months of age. Following her four-month vaccination, she developed a high fever accompanied by left-sided tonic-clonic convulsions lasting 15 minutes.
She also exhibited developmental delays, including learning difficulties and delayed speech and language development. Neurological examination Normal tone and tendon reflexes in her lower and upper limbs Babinski sign – Normal Diagnostic evaluation Electroencephalography Occasional generalized spike and slow-wave discharges, most prominent in the frontal region, suggesting generalized epileptiform activity Lumbar Puncture – No significant findings MRI – Mild cerebellar vermis atrophy Genetic Testing A heterozygous pathogenic…
