Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab

Arnold J Sansevere; Lauren A Henderson; Coral M Stredny; Sanjay P Prabhu; Ankoor Shah; Robert Sundel; Joseph Madsen; Chantal Dufreney; Annapurna Poduri; Mark P Gorman

doi:10.1016/j.ebr.2020.100360

Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab

Epilepsy Behav Rep. 2020 Mar 21:14:100360. doi: 10.1016/j.ebr.2020.100360. eCollection 2020.

Authors

Arnold J Sansevere^{1

2}, Lauren A Henderson³, Coral M Stredny^{1

2}, Sanjay P Prabhu⁴, Ankoor Shah⁵, Robert Sundel⁶, Joseph Madsen⁷, Chantal Dufreney⁸, Annapurna Poduri^{1

2}, Mark P Gorman²

Affiliations

¹ Division of Epilepsy and Neurophysiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
² Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
³ Division of Immunology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
⁴ Department of Radiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
⁵ Department of Ophthalmology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
⁶ Department of Pathology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
⁷ Department of Neurosurgery, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
⁸ Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.

Abstract

Rasmussen encephalitis (RE) is a disorder characterized by drug-resistant seizures and progressive unihemispheric atrophy, hemiparesis, and varying degrees of cognitive decline. The pathophysiology of RE remains elusive, with hypotheses suggesting underlying autoimmune- and T cell-mediated processes. In this case report, we describe a single patient's clinical course from the first day of presentation until definitive treatment for atypical Rasmussen encephalitis at a tertiary care pediatric center. The patient exhibited several atypical features of Rasmussen encephalitis, including a posterior predominance of initial seizure onset with the development of severe choreoathetosis and ipsilateral cerebellar atrophy. He subsequently developed coexistent autoimmune disorders in the form of psoriasis and uveitis, and underwent multiple forms of immunotherapy with limited benefit. This patient shows an association of RE with other autoimmune conditions supporting an autoimmune mechanism of disease while exhibiting several atypical features of RE. Rarely, occipital lobe seizures have been documented as the presenting semiology of this syndrome. This case highlights the need to be mindful of atypical features that may delay hemispherectomy, which remains the definitive treatment. It also suggests that children may be predisposed to the development of autoimmune disorders in later stages of the disease.

Keywords: Bien criteria; Drug resistant epilepsy; Rasmussen encephalitis; atypical Rasmussen encephalitis.

Publication types

Case Reports

Grants and funding

U54 HD090255/HD/NICHD NIH HHS/United States