Rasmussen Encephalitis Followed by Other Autoimmune Disorders: Comorbidity or Chance Association? (P05.211)

Abstract

Objective: To study patients with Rasmussen encephalitis (RE) and associated autoimmune disorders (AID). Background RE is a rare chronic inflammatory disease characterized by intractable focal epilepsy, often epilepsia partialis continua, progressing to hemiparesis, cognitive impairment, and unilateral cerebral atrophy. The etiology of RE remains unknown. We have previously reported the occurrence of two rare AID, Behcet9s disease and RE, in a father and son respectively. Design/Methods: Review of medical records of four individuals with a dual diagnosis of RE and other AID. Results: The diagnosis of RE in all four patients was based on previously reported criteria, and was pathologically confirmed in patients 2, 3 and 4. In family 1, a patient with RE onset at 2 years developed Hashimoto9s thyroiditis at 15 years; he also had a brother with Type 1 (autoimmune) diabetes mellitus. In family 2, the patient had RE onset at 3 years, and developed ulcerative colitis at 10 years. In family 3, the patient had RE at the age of 6 years, and developed Crohn9s disease at age 14. In family 4, the patient had RE onset at 14 years and onset of systemic lupus erythematosus at 31 years. In these four families, the second AID appeared several years after the onset of RE, with a mean interval of 11 years (median 10 years). Conclusions: We suggest that the incidence of a second AID in RE patients may be higher than by chance; however, the true frequency and relative risk are unknown. Our observations suggest that there may be a common predisposing factor for the development of autoimmune responses in these patients. Further study of the long term evolution of RE patients, as well as detailed family histories, and use of newer molecular techniques such as CGH microarray and whole exome sequencing, are warranted to clarify this. Disclosure: Dr. Amrom has nothing to disclose.