rss
J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2012-303807
  • Neuro-inflammation
  • Research paper

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

Open Access
  1. Ming J Lim1,5,6
  1. 1Department of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK
  2. 2Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK
  3. 3Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK
  4. 4Department of Paediatric Neurology, St George's Hospital, London, UK
  5. 5Department of Paediatric Neurosciences, Evelina Children's Hospital, Guy's and St Thomas’ NHS Foundation Trust, King's Health Partners AHSC, London, UK
  6. 6Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, King's Health Partners AHSC, London, UK
  1. Correspondence to Dr Ming Lim, Paediatric Neurosciences, Evelina Children's Hospital @ Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Sciences Centre, London SE1 7EH; ming.lim{at}gstt.nhs.uk and Professor Angela Vincent, Level 6, West Wing, Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford OX3 9DU, UK; angela.vincent{at}ndcn.ox.ac.uk
  • Received 31 July 2012
  • Revised 22 October 2012
  • Accepted 25 October 2012
  • Published Online First 22 November 2012

Abstract

Objective To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.

Method Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007–2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase.

Results Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect.

Conclusions Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/3.0/ and http://creativecommons.org/licenses/by-nc/3.0/legalcode

Relevant Article

Open Access

Podcasts
Visit the full archive of podcasts for JNNP here >>

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JNNP.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Navigate This Article