Bilateral Posterior Periventricular Nodular Heterotopia with Cerebellar Hypoplasia,Communicating Hydrocephalus and Bilateral Hippocampal Sclerosis

Abstract

Heterotopias are foci of grey matter in abnormal locations in the brain and are secondary to arrest of neuronal migration. Bilateral periventricular nodular heterotopias (BPVNH) are a rare form of heterotopic disorders. Many varieties of BPVNH with various associations have been reported in the literature, the commonest being the classical X-linked variety usually associated with filamin A gene (FLNA) mutations. The relationship of other types of BPVNH to this gene is variable. We report a rare variety of this entity – BPVNH with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. An exostosis arising from the left petrous temporal bone was an added finding in our patient.