6 结果
The authors report two cases of children suffering from Epilepsia Partialis Continua (EPC). The first case concerned a boy primarily affected by abdominal neuroblastoma and secondarily by bilateral EPC; "pallidal posture" was the prominent clinical feature. An acute measles encephalitis was
Morphological and biochemical findings are described from the brain biopsy of an 11-year-old girl with intractable type II epilepsia partialis continua. Computerized tomography scan showed severe progressive central and cortical atrophy, mainly of the right hemisphere. Brain biopsy revealed
A limited cortical resection including the rolandic fissure and the pre- and postcentral cortical regions was carried out in a patient suffering from epilepsia partialis continua resistant to antiepileptic drugs. The histological examination revealed several foci of very large neurons distributed
To investigate the etiology and clinical features of epilepsia partialis continua (EPC) in children.A retrospective analysis was performed for the clinical features, diagnosis and treatment of six children with EPC, and the clinical and laboratory features Mitochondrial DNA depletion syndrome (MDS) is a severe recessively inherited disease of childhood. It manifests most often in infancy, is rapidly progressive and leads to early death. MDS is caused by an increasing number of nuclear genes leading to multisystemic or tissue-specific decrease in
The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with