Neuropediatrics 2014; 45 - fp052
DOI: 10.1055/s-0034-1390557

Severe Anti-NMDAR-Encephalitis with Extreme Movement Disorder in an 18-Month-Old Girl: Long-Term Follow-Up by Video

C. Reihle 1, C. Bien 2, C. Severien 3, K. Marquard 4, M. Blankenburg 5
  • 1Klinikum Stuttgart Olgahospital, Pädiatrie 1 ‐ Pädiatrische Neurologie, Psychosomatik und Schmerztherapie, Stuttgart, Germany
  • 2Krankenhaus Mara, Epilepsie-Zentrum Bethel, Bielefeld, Germany
  • 3Klinik für Kinder- und Jugendmedizin Böblingen, Böblingen, Germany
  • 4Klinikum Stuttgart Olgahospital, Pädiatrie 1 ‐ Pädiatrische Neurologie, Psychosomatik und Schmerztherapie, Stuttgart, Germany
  • 5Klinikum Stuttgart, Pädiatrie 1 ‐ Pädiatrische Neurologie, Psychosomatik und Schmerztherapie, Stuttgart, Germany

Introduction: If anti-N-methyl d-aspartate (NMDAR) encephalitis presents in infancy, it usually shows a clinical picture of severe acute encephalopathy with movement disorder. We documented the follow-up on a case of early-childhood anti-NMDAR-encephalitis with a relapse under second-line immunotherapy, using repeat videos. The girl improved only after an additional intensive therapy.

Case Report: An 18-month-old girl of nonconsanguineous descent originating from Ghana developed a febrile encephalopathy with extreme orofacial dyskinesia with chorea, seizures, and an extreme sleep disorder. Cerebral magnetic resonance imaging was normal. Cerebrospinal fluid examination revealed a slight pleocytosis (18 cells/µL). High titers of NMDAR antibodies were detected in serum (titer 1:8,000; cerebrospinal fluid not examined). An infectious encephalitis (e.g., herpesvirus) and a tumor were excluded. First-line therapy of anti-NMDAR-encephalitis (steroid pulses, immunoglobulins, and plasmapheresis) did not show sustained effect. Second-line therapy (rituximab and steroid pulses) was likewise unsuccessful. Only under intensified relapse therapy (repeat plasmapheresis, monthly endoxan plus daily low-dose steroids) was continuous improvement achieved. Mental retardation, however, became obvious at 3 years of age.

Discussion: Only a few cases of anti-NMDAR encephalitis have been described in children younger than 2 years of age. Symptoms of an acute encephalopathy with orofacial dyskinesia and extreme sleep disorder are clues to the diagnosis. First-line therapy and second-line therapy are derived from adult treatment protocols, and thus far, no standardized protocols for children have been established.

In summary: Our case suggests it may be possible to improve the outcome of infantile anti-NMDAR encephalitis by intensification of immunotherapy, despite the prolonged disease course. Standardization of treatment protocols for children through clinical trials is desirable.