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Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA

Helene Verhelst1, Patrick Verloo, Karlien Dhondt

  • 1Department of Paediatric Neurology, Ghent University Hospital, De Pintelaan 185, B-9000 Gent, Belgium. helene.verhelst@ugent.be

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|August 10, 2010
PubMed

Insights

Anti-NMDA-receptor encephalitis, typically seen in young women, occurred in a 3-year-old boy following a respiratory infection. Genetic analysis revealed a microdeletion on chromosome 6p21.32, suggesting a potential inherited predisposition.

Area of Science:

  • Neuroimmunology
  • Pediatric Neurology
  • Genetics

Background:

  • Anti-NMDA-receptor encephalitis was first identified as a paraneoplastic syndrome associated with ovarian teratomas in young women.
  • This autoimmune encephalitis involves antibodies targeting the N-methyl-D-aspartate (NMDA) receptor, leading to severe neurological and psychiatric symptoms.

Observation:

  • A 3-year-old boy presented with anti-NMDA-receptor encephalitis.
  • The onset of encephalitis followed a recent respiratory infection.
  • Array-comparative genomic hybridization identified an inherited microdeletion in chromosome band 6p21.32.

Findings:

  • The identified microdeletion encompasses the HLA-DPB1 and HLA-DPB2 genes.
  • This genetic finding suggests a potential inherited predisposition to autoimmune encephalitis in this pediatric patient.
  • The case expands the known demographic and potential etiological factors for anti-NMDA-receptor encephalitis.

Implications:

  • This case highlights that anti-NMDA-receptor encephalitis can occur in young boys, not exclusively in young women.
  • The presence of an inherited microdeletion involving HLA genes may indicate a genetic susceptibility to developing autoimmune disorders.
  • Further research is warranted to explore the role of genetic factors, such as microdeletions in the 6p21.32 region, in the pathogenesis of anti-NMDA-receptor encephalitis.

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