Colpocephaly, a Very Rare Neonatal Brain Malformation: a Case Report and Literature Review

Colpocephaly is a very rare brain malformation, in which the occipital horns are larger than the anterior horns of the lateral ventricles. We report the case of a newborn with colpocephaly associated with agenesis of the corpus callosum and a spina bifida. Newborn male, from an unrelated marriage, of a 21-year-old mother, with no particular pathological history. The newborn was admitted on the first day of life of life for an early neonatal infection with pulmonary localization associated with a polymalformative syndrome made up of a facial dysmorphism, a spina bifida and a limb anomalies. The transfontanellar ultrasound showed triventricular hydrocephalus and brain CT scan showed colpocephaly associated with an agenesis of the corpus callosum. The etiological investigation did not show any drug intake or toxic substances during pregnancy. Serologies for toxoplasmosis, rubella, HIV, syphilis, hepatitis B and CMV were negative. The newborn died before a genetic study and brain MRI could’not be performed. Antenatal and postnatal diagnosis of colpocephaly is difficult because of its rarity and its radiological appearance close to hydrocephalus, hence the need for appropriate postnatal imaging andwell-codified multidisciplinary support.