Résumé
We report here a Chinese female infant with severe hypoplasia of the cerebellum and pons, and heterozygous mutation (c.18G >T, p.E6D) in the TSEN54 gene. This mutation was not present in her parents and the 100 Chinese controls, which proved to be a de novo missense mutation. MR imaging of the patient revealed severe hypoplasia of the bilateral cerebellar hemispheres and vermis with moderate flattening of the pons. A video EEG during hospitalization demostrated abnormal background activities and generalized burst and attenuation patterns during interictal stage. The spasms and tonic spasms occurred frequently in clusters with generalized voltage attenuation.
Résumé
<p><b>OBJECTIVE</b>Rasmussen syndrome (RS) is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere. The present study aimed to analyze the electroclinical characteristics and treatment of RS.</p><p><b>METHODS</b>The medical records of 16 children with RS were retrospectively reviewed.</p><p><b>RESULTS</b>Of the 16 children, 8 were males and 8 were females. The age of onset was from 1 year and 11 months to 11 years and 6 months. The first symptom was seizure in all patients. The main seizure type was partial motor seizures. In all the patients, seizures gradually became frequent and in the form of epilepsia partialis continua (EPC). Thirteen cases developed hemiparesis. Fixed hemiparesis occurred from 2 months to 3 years after the onset of seizures. The cognitive deterioration was present in 14. The EEG background activity was abnormal in all the cases, asymmetric slow wave disturbances were bilateral but with unilateral predominance in 11, unilateral delta or theta wave in 8. The presence of interictal epileptiform discharges were found in all cases, unilateral in 11 and bilateral in 5. Seizures were recorded in all patients, no electroclinical correlation was found in 5. Serial magnetic resonance imaging (MRI) showed progressive unihemispheric or focal cortical atrophy in all cases. Six cases transiently showed focal cortical swelling or T2/FLAIR hyperintense signal on early scans. Antiepileptic drugs were not effective in any of the patients. Three of 10 patients receiving immunoglobulin, and 4 of 8 receiving corticosteroids, had some reduction of seizure frequency for a short period. Six patients accepted functional hemispherectomy, in 4 of them seizure no longer occurred and cognitive function was improved. The results of multiple subpial transection in 2 cases and focal resection in one patient were disappointing.</p><p><b>CONCLUSION</b>The clinical features of RS were refractory partial epilepsy, progressive hemiplegia and cognitive deterioration. The EEG background was asymmetric with slow wave activity, interictal epileptiform discharges were unilateral or bilateral, no electroclinical correlation occurred. Serial MRI showed progressive unihemispheric focal cortical atrophy. Antiepileptic drugs were not effective for RS. In some patients, immunoglobulin or corticosteroids could reduce seizure frequency in the short term. Functional hemispherectomy could lead to seizure control and prevent further development of neurological impairment and cognitive deterioration.</p>