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A 16-year-old girl with anti-NMDA-receptor encephalitis and family history of psychotic disorders

  • Neil Cleland (a1), Samuel Lieblich (a2), Martin Schalling (a3) and Christoffer Rahm (a2) (a4)

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.

Copyright

Corresponding author

Dr. Christoffer Rahm, Department of Psychiatry, Melbourne Neuropsychiatry Centre, Alan Gilbert Building, Level 3, 161 Barry Street, Carlton South, 3053 VIC, Australia. Tel: 61 3 9035 8628; Fax: 61 3 9348 0469 E-mail: christoffer.rahm@sll.se

References

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