Abstract
Background
Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare type of autoimmune
encephalitis. A characteristic faciobrachial dystonic seizure (FBDS) is also frequently
associated with this disease. Although primarily reported in the adult population,
reports of its occurrence in the pediatric population are rare. Here, we describe
a case of a 6-year-old girl diagnosed with anti-LGI1 encephalitis that presented with
cognitive decline and FBDS.
Case presentation
The girl was referred to a pediatric neurology department for uncontrolled seizures
and dyskinesia. She initially presented with a memory deficit, abnormal movement of
the limbs and trunk, and ataxia. Her cerebrospinal fluid exam was unremarkable, but
her brain MRI showed focal T2 high signal intensity in the left anterior putamen and
right caudate nucleus. In addition, there were refractory episodes of brief tonic
or dystonic movement of the face and arms that were suggestive of FBDS. She was initially
treated with intravenous methylprednisolone and phenobarbital, then given another
pulse of methylprednisolone and intravenous immunoglobulin as her symptoms persisted.
Tests for neuronal autoantibodies revealed the presence of anti-LGI1 antibodies. Subsequent
human leukocyte antigen (HLA) typing resulted in the identification of HLA-DRB1 DR7(*07:01 g)
DR9(*09:01 g). Screening for thymoma and other neoplasms showed no signs of a tumor.
She was treated with rituximab, tocilizumab, and antiseizure medications, including
oxcarbazepine, valproic acid, and lamotrigine. Her FBDS and cognitive symptoms showed
substantial improvements.
Conclusion
While it is known that anti-LGI1 encephalitis responds well to immunotherapy, our
patient showed an incomplete response, requiring further therapy. This is the first
report of a pediatric patient with anti-LGI1 encephalitis treated with tocilizumab.
Keywords
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 accessOne-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 Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Neuronal autoantigens–pathogenesis, associated disorders, and antibody testing.Nat Rev Neurol. 2012; 8: 380-390
- Autoantibodies to synaptic receptors and neuronal cell surface proteins in autoimmune diseases of the central nervous system.Physiol Rev. 2017; 97: 839-887
- Anti-LGI1 encephalitis: Clinical syndrome and long-term follow-up.Neurology. 2016; 87: 1449-1456
- Distinct HLA associations of LGI1 and CASPR2-antibody diseases.Brain. 2018; 141: 2263-2271
- Anti-LGI1 encephalitis is associated with unique HLA subtypes.Ann Neurol. 2017; 81: 183-192
- LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome.J Neuroimmunol. 2019; 335577008
Alotaibi W, Bashir S, Mir A. Faciobrachial Dystonic Seizures as a Sign of Relapse in a Child with LGI-1 Encephalitis. Child Neurol Open. 2022;9:2329048X221105960.
- Autoimmune encephalitis and its relation to infection.Curr Neurol Neurosci Rep. 2015; 15: 3
- Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.J Neurosci. 2013; 33: 18161-18174
- Autoimmune encephalitis: proposed best practice recommendations for diagnosis and acute management.J Neurol Neurosurg Psychiatry. 2021; 92: 757-768
- Anti-LGI1-associated cognitive impairment: Presentation and long-term outcome.Neurology. 2016; 87: 759-765
- Tocilizumab in Autoimmune Encephalitis Refractory to Rituximab: An Institutional Cohort Study.Neurotherapeutics. 2016; 13: 824-832
- Super refractory status epilepticus secondary to anti-GAD antibody encephalitis successfully treated with aggressive immunotherapy.Epilepsy Behav Rep. 2020; 14100396
- Tocilizumab in Refractory Autoimmune Encephalitis: A Series of Pediatric Cases.Pediatr Neurol. 2018; 86: 66-68
- LGI1-antibody encephalitis is characterised by frequent, multifocal clinical and subclinical seizures.Seizure. 2017; 50: 14-17
- 18F-FDG PET/CT in anti-LGI1 encephalitis: initial and follow-up findings.Clin Nucl Med. 2015; 40: 156-158
- The Clinical Value of (18) F-FDG-PET in Autoimmune Encephalitis Associated With LGI1 Antibody.Front Neurol. 2020; 11: 418
Article info
Publication history
Published online: February 27, 2023
Accepted:
February 13,
2023
Received in revised form:
February 5,
2023
Received:
September 14,
2022
Publication stage
In Press Corrected ProofIdentification
Copyright
© 2023 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
