Genetic Factors in Rasmussen’s Encephalitis Characterized by Whole-Exome Sequencing

Rasmussen’s encephalitis (RE) is a rare chronic neurological disorder characterized by unihemispheric brain atrophy and epileptic seizures. The mechanisms of RE are complex. Adaptive immunity, innate immunity and viral infection are all involved in the development of RE. However, there are few studies on the role of genetic factors in the mechanisms of RE. Thus, the objective of this study was to reveal the genetic factors in the mechanisms of RE. Whole-exome sequencing (WES) was performed in 15 RE patients. Ten patients with temporal lobe epilepsy (TLE), which is a common and frequently intractable seizure disorder, were used as the controls. Thirty-one non-silent single nucleotide variants (SNVs) affecting 16 genes were identified in the RE cases. The functions of the genes with SNVs were associated with antigen presentation, antiviral infection, epilepsy, schizophrenia and nerve cell regeneration. Genetic factors of RE were found first in this study. These results suggest that RE patients have congenital abnormalities in adaptive immunity and are susceptible to some harmful factors, which lead to polygenic abnormal disease.

Functional hemispherectomy for patients with adult-onset Rasmussen’s encephalitis

Background Surgical treatment for patients with adult-onset Rasmussen’s encephalitis (A-RE) is rarely reported. We investigated the clinical and surgical features of two patients with A-RE who underwent functional hemispherectomy. Case presentation The data of clinical manifestations, neuroimaging, surgical treatment and surgical outcomes of two patients with A-RE was reviewed. The two patients initially presented with recurrent partial seizures or secondly generalized tonic clonic seizures. Gradually, the patients showed unilateral limb paralysis as well as chronic focal epileptic status. Both patients underwent functional hemispherectomy and achieved seizure freedom in the follow-up. The contralateral neurological deficits improved gradually after rehabilitation and were acceptable for the self-care of daily living. The living quality improved prominently after surgery. Conclusions Despite the risk of hemiplegia, functional hemispherectomy may be a choice for patients with A-RE for favorable seizure control and improved quality of life in selected patients.