N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression

Dev Med Child Neurol. 2016 Oct;58(10):1092-4. doi: 10.1111/dmcn.13169. Epub 2016 Jun 3.

Abstract

Expressive dysphasia and mutism are common clinical features in children and adults with N-methyl-d-aspartate receptor antibodies (NMDAR-Ab) encephalitis, and are likely to result from NMDAR hypofunction. A prodromal loss of social and communication skills can typify that of an autistic regression, particularly when presenting under the age of 3 years. Here we describe two toddlers who presented with developmental regression, particularly of their social communication skills, mimicking an autistic regression, who were found to have NMDAR-Ab in the serum and cerebrospinal fluid. Although both patients had some other neurological features, they were subtle, which resulted in delayed diagnosis of NMDAR-Ab encephalitis. Importantly, immunotherapy was beneficial in both patients, with significant improvement of their language skills and behaviour.

Publication types

  • Case Reports

MeSH terms

  • Anti-N-Methyl-D-Aspartate Receptor Encephalitis / complications
  • Anti-N-Methyl-D-Aspartate Receptor Encephalitis / diagnosis*
  • Autistic Disorder / complications
  • Autistic Disorder / diagnosis*
  • Child, Preschool
  • Communication Disorders / diagnosis*
  • Communication Disorders / etiology
  • Delayed Diagnosis*
  • Female
  • Humans
  • Male