Early infantile epileptic encephalopathy: a long-term follow-up study
The authors report a case of a newborn with severe encephalopathy and cerebral calcifications. The newborn was admitted to Neonatal Intensive Care Unit in Chieti at 2 days of age suffering from continuous generalized seizures. He was the child of healthy first-degree cousins. Cerebral ultrasonography showed bilateral ventricular dilatation and an intrathalamic hyperechoic image. Computed tomography and magnetic resonance imaging showed ventricular and corpus callosus hypoplasia, pachygyria, widespread delayed myelination areas, and basal nuclei and periventricular calcifications. All serum and urine analyses showed normal results. In particular, all demyelinizing metabolic diseases were excluded. Based upon these findings, we speculate that this infant may be suffering from fetal encephalopathy with cerebral calcifications.