- •A paediatric case of GABAAR encephalitis without development of seizures despite severe phenotype.
- •A full recovery upon early immunosuppression unlike previous reports.
- •A report extending the phenotype of this rare disease.
- •A medical history raising questions about the aetiology of autoimmune encephalitis.
Autoimmune-mediated processes are the driving force behind many neurological diseases. Autoimmune encephalitis, a group of syndromes, mediated by or at least associated with autoantibodies against neuronal tissue, have gained increasing importance especially in paediatric neurology. Since the first NMDAR encephalitis was described a growing number of patients with encephalopathy, seizures and psychiatric symptoms were found to suffer from treatable autoimmune disorders. Recently a severe form of encephalitis associated with GABAAR antibodies was described showing extensive MRI abnormalities and refractory seizures.
We now describe a child with catatonia and encephalopathy due to antibodies against the GABAA receptor. It is a rare paediatric case without the development of seizures despite severe encephalopathy.
The report extends the phenotype of this rare disease. It demonstrates a favourable outcome after introduction of an early and aggressive immunomodulatory therapy. Due to the child's history of previous viral meningitis, the case raises questions about the unrevealed mechanisms leading to autoimmune encephalitis, including the model of a viral trigger as discussed in Herpes infection and NMDAR encephalitis. Finally, it describes in detail the neuropsychological symptoms and cognitive functions during disease flare and recovery.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to European Journal of Paediatric Neurology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- GABAA receptor trafficking and its role in the dynamic modulation of neuronal inhibition.Nat Rev Neurosci. 2008; 9: 331-343https://doi.org/10.1038/nrn2370
- Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies.Lancet Neurol. 2014; 13: 276-286https://doi.org/10.1016/S1474-4422(13)70299-0
- Identification and characterization of GABAA receptor autoantibodies in autoimmune encephalitis.J Neurosci. 2014; 34: 8151-8163https://doi.org/10.1523/JNEUROSCI.4415-13.2014
- Antibodies to GABAA receptor α1 and γ2 subunits: clinical and serologic characterization.Neurology. 2015; 84: 1233-1241https://doi.org/10.1212/WNL.0000000000001326
- Investigations in GABA Areceptor antibody-associated encephalitis.Neurology. 2017; 88: 1012-1020https://doi.org/10.1212/WNL.0000000000003713
- Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study.Lancet Neurol. 2013; 12: 157-165https://doi.org/10.1016/S1474-4422(12)70310-1
- Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.Mol Endocrinol. 1998; 12: 1112-1119https://doi.org/10.1210/mend.12.8.0143
- Atypical manifestations and poor outcome of herpes simplex encephalitis in the immunocompromised.Neurology. 2012; 79: 2125-2132https://doi.org/10.1212/WNL.0b013e3182752ceb
- N-methyl- D-aspartate receptor antibodies in herpes simplex encephalitis.Ann Neurol. 2012; 72: 902-911https://doi.org/10.1002/ana.23689
- Herpes simplex virus encephalitis is a trigger of brain autoimmunity.Ann Neurol. 2014; 75: 317-323https://doi.org/10.1002/ana.24083
- Limbic encephalitis: another example of molecular mimicry?.Eur Neurol. 2007; 57: 191-192https://doi.org/10.1159/000099157
Published online: January 09, 2018
Accepted: January 2, 2018
Received in revised form: November 22, 2017
Received: May 12, 2017
© 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.