title: A 16-year-old girl with anti-NMDA-receptor encephalitis and family history of psychotic disorders.
abstract: BACKGROUND
  Autoimmune NMDA-R encephalitis (ANRE) shares clinical features with schizophrenia. Recent research also indicates that both disorders are associated with dysfunction of the N-Methyl-D-Aspartate glutamate receptors (NMDA-R) subunit 1.
  
  
  METHODS
  We present the case of Ms A, 16 years old. Ms A presented with acute personality change, bizarre behaviour, delusional ideas and atypical seizures. She had a family history of psychotic disorders, and autistic traits diagnosed in childhood. She was initially diagnosed with a psychotic disorder. Delayed testing of CSF indicated ANRE. As the patient was a Jehovah's witness the treating team was unable to use gammaglobulin therapy; they instead relied on combined plasmapheresis and rituximab. To exclude the possibility that the affected members of this family shared a gene coding for an abnormal configuration of the NMDA receptor subunit 1 we sequenced the region of the GRIN1 gene in DNA extracted from blood in both Ms A and her grandmother.
  
  
  RESULTS
  Ms A's condition improved dramatically, though her long-term memory is still demonstrably impaired. No genetic abnormality was detected.
  
  
  CONCLUSIONS
  This case emphasizes how important it is, for a first episode psychosis, to exclude ANRE and other autoimmune synaptic encephalitides, even in the face of significant family history, and if seronegative, the importance of testing for CSF autoantibodies.
authors.affiliation: 1Child and Adolescent Psychiatric Clinic,Stockholm County Council,Stockholm,Sweden.
authors.forename: Neil
authors.initials: N
authors.lastname: Cleland
authors.affiliation: 2Department of Psychiatry,Melbourne Neuropsychiatry Centre,University of Melbourne,Melbourne,Australia.
authors.forename: Samuel
authors.initials: S
authors.lastname: Lieblich
authors.affiliation: 3Department of Molecular Medicine and Surgery,Center for Molecular Medicine,Karolinska Institutet,Stockholm,Sweden.
authors.forename: Martin
authors.initials: M
authors.lastname: Schalling
authors.affiliation: 2Department of Psychiatry,Melbourne Neuropsychiatry Centre,University of Melbourne,Melbourne,Australia.
authors.forename: Christoffer
authors.initials: C
authors.lastname: Rahm
mesh_terms: D000293:Adolescent; D060426:Anti-N-Methyl-D-Aspartate Receptor Encephalitis / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000523:psychology*; D005260:Female; D006801:Humans; D057567:Memory, Long-Term; D016202:N-Methylaspartate / Q000378:metabolism; D011618:Psychotic Disorders / Q000378:metabolism* / Q000523:psychology*; D016194:Receptors, N-Methyl-D-Aspartate / Q000378:metabolism*
chemical_list: D016194:Receptors, N-Methyl-D-Aspartate; D016202:N-Methylaspartate
keywords: GRIN1; N-Methyl-d-aspartic acid; encephalitis; mabthera; psychosis