Child Neurology: Epilepsy of infancy with migrating focal seizures

Abstract

Epilepsy of infancy with migrating focal seizures is a rare, infantile epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. In the revised terminology by the International League Against Epilepsy, it has been classified as an “electro-clinical syndrome” of “unknown cause” with onset in infancy.1 Affected infants have progressive psychomotor retardation and decline of head circumference percentile. We present a 6-month-old boy diagnosed with this entity and discuss the approach to an infant with unexplained refractory seizures. A 6-month-old boy presented with developmental delay and focal seizures. He was the second child born to a third-degree consanguineous couple. His perinatal period had been uneventful and he had attained social smile by the age of 6 weeks. He started having seizures at the age of 2 months. The seizures consisted of deviation of eyes and head along with tonic posturing of arm or leg of either side and associated flushing. The seizures usually lasted for 1–2 minutes. The initial frequency was 2–3 per day but gradually over the next 4 months, it increased to 50–60 per day. He had been treated with phenobarbitone, phenytoin, carbamazepine, topiramate, and levetiracetam without success. He had lost social smile, and not gained any new developmental milestones. Family history was not significant. Examination revealed a well-thriving baby with head circumference of 40 cm (<−2 SD). There were no neurocutaneous markers or dysmorphic features. The neurologic examination revealed reduced interaction and alertness, normal cranial nerves including fundus, and normal tone with brisk tendon reflexes and extensor …