Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione

The patient, a 24-years old man, an adoptive son without data about his relatives, showed, at the age of 8 months, difficulty in opening hands after grasp and a history of generalized seizures since he was 1-year old. At the age of 14 years diseappearance of epileptic attacks under therapy with phenobarbital and carbamazepine, and at the age of 15 years the patient showed a psychotic dissociative syndrome. In the hospital a diffuse muscular hypertrophy, myotonic phenomenon at the hands and absent tendon reflexes were present. Intellectual evaluation revealed a below average intelligence with loss of real contact and cognitive distorsion of mind. EEG was abnormal; CT brain scan was normal. Cerebral SPECT with 99mTc - HMPAO evidenced a reduced perfusion of the basal ganglia. Serum levels of CK were 297 IU/l (n.v. 25-200 IU/l). CNEMG showed myotonic discharges. Muscle biopsy revealed some atrophic fibers and an increased number of internal nuclei. In consideration of recent molecular studies concerning diseases related to dysfunction of the ionic channel we describe this case in which the occurrence of myotonia, epilepsy and schizophrenia may represent the expression of three associated disturbances with a possible common pathogenetic mechanism.