Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis

Abstract

Periventricular nodular heterotopia (PNH) is considered a distinct entity in relation to the other forms of neuronal migration disorders (NMD), because PNH patients usually have normal neurological and mental examination results. We report the case of a 48-year-old woman with bilateral periventricular nodular heterotopia associated with epilepsy, coeliac disease, palatoschisis and other dysmorphic features. Her intelligence quotient (I.Q.) and the results of a neurological examination were normal, but she suffered from a drug-resistant epileptic syndrome characterised by predominantly generalised and sporadic partial seizures. It has recently been suggested that an X-linked dominant inheritance may play a role in bilateral periventricular nodular heterotopia, and it is thought that a genetic defect is probably responsible for coeliac disease. In our patient, a genetic disorder may have produced both diseases and the dysmorphic syndrome, although the coexistence of PNH, epileptic seizures, coeliac disease and palatoschisis could be coincidental. Further observations are needed to ascertain whether the simultaneous presence of these disorders is simply an unusual association of unrelated pathologies or a new and distinct pathological entity.