EFFICACY OF TOPIRAMATE AS ADD-ON THERAPY IN TWO DIFFERENT TYPES OF PROGRESSIVE MYOCLONIC EPILEPSY

The present article describes two unrelated cases of progressive myoclonic epilepsy (PME) of the Lafora’s disease and Unverricht-Lundborg types who were treated with topiramate (TPM) as add-on therapy for their myoclonus. After the initiation of topiramate therapy both cases responded with marked decrease in myoclonic seizure frequency and improvement of quality of life. Topiramate appears to be a useful alternative agent in cases of PME and could be consider for adjunctive therapy.

Lafora-Like Ground-Glass Inclusions in Hepatocytes of Pediatric Patients: A Report of Two Cases

We report 2 cases of ground-glass hepatocyte inclusions occurring in pediatric patients. Case 1 had alpha-thalassaemia major and was receiving iron chelation therapy, whereas case 2 had trisomy 21 with a history of bone marrow transplantation for acute myeloid leukemia. The liver sections in both cases showed eosinophilic, periodic acid-Schiff diastase—positive intracytoplasmic inclusions that were negative for hepatitis B surface antigen. Immunohistochemically the inclusions showed positive staining with KM279, a monoclonal antibody against polyglucosan derived from Lafora inclusions. On electron microscopy, in case 1, intracytoplasmic inclusions were composed of degenerate organelles, glycogen, and irregular fibrillar structures; in case 2, they were composed of vesicular structures containing granular material. Ultrastructural changes in both cases differed from classical Lafora inclusions and ruled out hepatitis B surface antigen, glycogenosis type IV, and fibrinogen storage disease. Genetic analysis of the Lafora's disease genes performed in case 2 revealed no mutations. The development of hepatocyte cytoplasmic inclusions in both our cases could be related to medication effects, because similar inclusions were reported in patients using cyanamide. Drug-induced inclusions, mimicking Lafora's disease, should be included in the differential diagnosis of hepatocyte ground-glass inclusions.