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. 2016 Oct-Dec;10(4):351-357.
doi: 10.1590/s1980-5764-2016dn1004016.

The importance of recognizing faciobrachial dystonic seizures in rapidly progressive dementias

Mateus Mistieri Simabukuro  1 , Paulo Ribeiro Nóbrega  1   2 , Milena Pitombeira  1   2 , Wagner Cid Palmeira Cavalcante  1 , Ronnyson Susano Grativvol  1 , Lécio Figueira Pinto  1 , Luiz Henrique Martins Castro  1 , Ricardo Nitrini  1
Affiliations

The importance of recognizing faciobrachial dystonic seizures in rapidly progressive dementias

Mateus Mistieri Simabukuro et al. Dement Neuropsychol. 2016 Oct-Dec.

Abstract
in English, Portuguese

Background: Creutzfeldt-Jakob Disease (CJD) is the prototypical cause of rapidly progressive dementia (RPD). Nonetheless, efforts to exclude reversible causes of RPD that mimic prion disease are imperative. The recent expanding characterization of neurological syndromes associated with antibodies directed against neuronal cell surface or sympathic antigens, namely autoimmune encephalitis is shifting paradigms in neurology. Such antigens are well known proteins and receptors involved in synaptic transmission. Their dysfunction results in neuropsychiatric symptoms, psychosis, seizures, movement disorders and RPD. Faciobrachial dystonic seizure (FBDS) is a novel characterized type of seizure, specific for anti-LGI1 encephalitis.

Objective: In order to improve clinical recognition we report the cases of two Brazilian patients who presented with characteristic FDBS (illustrated by videos) and anti-LGI1 encephalitis.

Methods: We have included all patients with FBDS and confirmed anti-LGI1 encephalitis and video records of FDBS in two tertiary Brazilian centers: Department of Neurology of Hospital das Clínicas, Sao Paulo University, Sao Paulo, Brazil and Hospital Geral de Fortaleza, Fortaleza, Brazil between January 1, 2011 and December 31, 2015.

Results: Both patients presented with clinical features of limbic encephalitis associated with FBDS, hyponatremia and normal CSF. None of them presented with tumor and both showed a good response after immunotherapy.

Conclusion: FBDSs may be confounded with myoclonus and occurs simultaneously with rapid cognitive decline. Unawareness of FDBS may induce to misdiagnosing a treatable cause of RPD as CJD.

Embasamento: A doença de Creutzfeldt-Jakob (DCJ) é o protótipo de demência rapidamente progressiva (DRP). No entanto, é imperativo que sejam excluídas causas reversíveis de DRPs que possam simular doença priônica. A recente caracterização de síndromes neurológicas associadas a anticorpos direcionados contra antígenos de superfície neuronal ou sinapse, assim denominadas de encefalites autoimunes, está mudando paradigmas em neurologia. Esses antígenos estão envolvidos na transmissão sináptica, sendo que as disfunções destes podem resultar em sintomas neuropsiquiátricos, psicose, crises epilépticas, distúrbios do movimento e DRP. A crise distônica faciobraquial (CDFB) é um tipo de crise recentemente caracterizada e específica da encefalite anti-LGI1.

Objetivo: Para promover um melhor reconhecimento da doença relatamos os casos de 2 pacientes brasileiros que apresentaram CDFBs (ilustradas com vídeos) associadas à encefalite anti-LGI1.

Métodos: Foram incluídos todos os pacientes com CDFBs e encefalite anti-LGI1 confirmados em 2 centros brasileiros terciários: Departamento de Neurologia do Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brasil e o Hospital Geral de Fortaleza entre 01 de janeiro de 2011 e 31 de dezembro de 2015.

Resultados: Ambos os casos apresentaram quadro clinico típico de encefalite límbica associada a CDFBs e exame do LCR sem alterações. Nenhum caso associou-se à presença de neoplasia e ambos apresentaram boa resposta à imunoterapia.

Conclusão: A CDFB podem ser confundidas com mioclonias e ocorrer simultaneamente com rápido declínio cognitivo, o seu não reconhecimento pode induzir ao diagnóstico errôneo de uma causa potencialmente tratável de DRP como sendo DCJ.

Keywords: Creutzfeldt-Jakob disease; anti-LGI1 encephalitis; autoimmune encephalitis; faciobrachial dystonic seizures; rapidly progressive dementias.

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Conflict of interest statement

Disclosure: The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Faciobrachial dystonic seizures (FBDSsW). [A–B] Ictal stills of 2 patients. The ipsilateral face grimacing and arm posturing are visible in both cases. Videos are available in the online supplementary data, with the patients' consent.
Figure 2
Figure 2
Brain MRI (case 1) showing T2/FLAIR hyperintensities in both mesial temporal lobes [A] and T2/FLAIR and T hyperintensities in right caudate and putamen [B, C].
See this image and copyright information in PMC

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