The authors report a case of a newborn with severe encephalopathy and
cerebral calcifications. The newborn was admitted to Neonatal Intensiv
e Care Unit in Chieti at 2 days of age suffering from continuous gener
alized seizures. He was the child of healthy first-degree cousins. Cer
ebral ultrasonography showed bilateral ventricular dilatation and an i
ntrathalamic hyperechoic image. Computed tomography and magnetic reson
ance imaging showed ventricular and corpus callosus hypoplasia, pachyg
yria, widespread delayed myelination areas, and basal nuclei and periv
entricular calcifications. All serum and urine analyses showed normal
results. In particular, all demyelinizing metabolic diseases were excl
uded. Based upon these findings, we speculate that this infant may be
suffering from fetal encephalopathy with cerebral calcifications.