Diagnosis and treatment of Rasmussen's encephalitis pose a big challenge: Two case reports and literature review

Abstract

Rasmussen encephalitis (RE) is a rare disease of unknown etiology that causes severe chronic unihemispheric inflammatory disease of the central nervous system mainly in children. It leads to intractable seizures, cognitive decline and progressive neurological deficits in the affected hemisphere. We report two cases of RE, as defined by fulfillment of the 2005 Bien criteria. The diagnostic challenge of characterizing this rare disease will be highlighted by the extensive serum, CSF, MR imaging and EEG data in the two patients. In addition, we will review the various forms of therapy attempted in these two patients, namely anti-epileptic drug therapy and immunomodulatory therapy. Hemispherectomy was done for the second patient with favorable outcomes of controlling seizures, but unfortunately, he died because of meningitis. Until the causes of Rasmussen's encephalitis are known, it is difficult to anticipate how treatments will improve. Such a situation creates a therapeutic dilemma; hemispherectomy is not favored because of the inevitable postoperative functional deficits, but a real risk exists that treatments used to delay progression of the disease will defer definitive surgical treatment beyond the time when an optimum post-hemispherectomy outcome could be expected.

A Case Report of a Positive Antinuclear Ribonucleoprotein Antibody, a Weak-Positive Antinuclear Antibody, Elevated C3 Complement, and Possibly Trauma-Induced Rasmussen’s Encephalitis

“…Differential diagnosis of RE include Dyke-Davidoff-Masson syndrome (DDMS), Sturge-Weber syndrome (and other neurocutaneous syndromes), hemi-megalencephaly, and unihemispheric cerebral vasculitis [ 15 ]. The differential diagnosis of stroke, cerebral vasculitis, multiple sclerosis, Creutzfeldt-Jakob disease, and subacute sclerosing panencephalitis were considered and excluded in this case based on history, laboratory studies, and the absence of associated characteristics on MRI and EEG studies done on the patient [ 16 ]. DDMS, with characteristic findings of unilateral cerebral atrophy with ipsilateral calvarial hypertrophy and hyperpneumatization of sinuses, could be of congenital or acquired causes and manifests in the intrauterine or perinatal period.…”

Retos en el diagnóstico y tratamiento de la Encefalitis de Rasmussen de inicio tardío: Reporte de tres casos

“…En nuestros 3 casos, como ya fue mencionado, no hubo respuesta a inmunoterapia. En la mayoría de los casos de niños y adultos, se han descrito respuestas pobres o solo transitorias a las inmunoterapias (corticoides, IgEV y recambio plasmático) tanto en la estabilización de los déficits neurológicos como en el control de crisis, en tanto que el éxito en el control de crisis mediante hemisferectomía o hemisferotomía funcional ha sido reportada hasta en un 80% (1)(2)(3)5,7,10,11,13,16). En años recientes, se ha ensayado inmunoterapias en combinación y más agresivas (ácido micofenólico, tacrolimus, rituximab, alemtuzumab, adalimumab) en pequeñas series de pacientes o reportes de casos, con mejores resultados, pero con más efectos adversos o pobre perfil de seguridad en algunos de ellas (tacrolimus y alemtuzumab) y se desconoce la respuesta a largo plazo (1,2,5).…”