BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA ASSOCIATED WITH CELIAC-DISEASE AND PALATOSCHISIS

Periventricular nodular heterotopia (PNH) is considered a distinct ent ity in relation to the other forms of neuronal migration disorders (NM D), because PNH patients usually have normal neurological and mental e xamination results. We report the case of a 48-year-old woman with bil ateral periventricular nodular heterotopia associated with epilepsy, c oeliac disease, palatoschisis and other dysmorphic features. Her intel ligence 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 seizu res. It has recently been suggested that an X-linked dominant inherita nce may play a role in bilateral periventricular nodular heterotopia, and it is thought that a genetic defect is probably responsible for co eliac disease. In our patient, a genetic disorder may have produced bo th diseases and the dysmorphic syndrome, although the coexistence of P NH, epileptic seizures, coeliac disease and palatoschisis could be coi ncidental. Further observations are needed to ascertain whether the si multaneous presence of these disorders is simply an unusual associatio n of unrelated pathologies or a new and distinct pathological entity.