Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams–Oliver syndrome

Abstract

We describe a new family with Adams-Oliver syndrome (AOS). The propositus is a 14-month-old boy presenting with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, and magnetic resonance imaging (MRI) findings consistent with periventricular leukomalacia (PVL). Fetal MRI at 26 weeks' gestation had shown bilateral dilatation of lateral ventricles and periventricular cysts at the site of postnatal lesions. The patient's father and paternal grandfather also had manifestations indicative of AOS. Antenatal and postnatal MRI findings suggest that our patient's PVL represents an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development.