Familiar periventricular nodular heterotopia in a 1year old female child

Abstract

Heterotopia is defined as a cluster of normal neurons in abnormal locations in the cerebral hemispheres. This neuronal migration disorder occurs during the gestation. Patients with periventricular nodular heterotopias typically demonstrate the clinical triad of localization-related epilepsy, normal intelligence and an isolated form of dyslexia affecting reading fluency. The majority of patients are female. We describe the case of a 1year old female child, with normal psychomotor development with no clinical findings and a family history of Tuberous Sclerosis Complex (TSC). The investigations for TSC was negative, while the Magnetic Resonance Imaging revealed multiple irregular periventricular nodules suggestive for bilateral periventricular nodular heterotopia. The aim of this case presentation is to describe this rare neuronal migration disorder which in some cases mimics TSC.