EC Clinical and Medical Case Reports

We report the case of a 4-year-old child, born at term via vaginal delivery, from non-consanguineous parents, with no history of neonatal distress or epilepsy in the family. The child exhibited psychomotor delay: head control was achieved at 6 months, sitting at 12 months, and walking at 2 years, along with mental retardation and delayed language acquisition. The illness began at the age of 8 months with the onset of generalized convulsive seizures characterized by eye rolling in a context of fever, and was treated with sodium valproate. The progression was marked by a decrease in the frequency of seizures. Clinical examination revealed facial dysmorphism: long face, micrognathia, low-set and protruding ears, bulbous nose, with short fingers and toes. The EEG showed abundant interictal epileptic anomalies in the form of generalized slow-wave spikes in prolonged bursts, compatible with epileptic encephalopathy. Brain MRI spectroscopy was normal, and the ophthalmologic examination was unremarkable. The karyotype was normal (46: XY) and was further complemented by exome sequencing, which revealed a 16p13.3 duplication. The patient is currently on sodium valproate at a dose of 30 mg/kg/day, along with speech therapy.

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