The importance of recognizing faciobrachial dystonic seizures in rapidly progressive dementias

Abstract

BackgroundCreutzfeldt-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.ObjectiveIn 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.MethodsWe 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.ResultsBoth 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.ConclusionFBDSs 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.

Brain Magnetic Resonance Imaging Characteristics of Anti-Leucine-Rich Glioma-Inactivated 1 Encephalitis and Their Clinical Relevance: A Single-Center Study in China

“…Anti-LGI encephalitis can mimic a variety of other pathological processes because of its diverse clinical features, presenting a diagnostic challenge for clinicians. This condition is commonly misdiagnosed as Creutzfeldt-Jakob disease and viral encephalitis (9,(28)(29)(30)(31). Thus, the recognition of lesion distribution pattern could serve as a useful clue for differential diagnosis.…”

The Clinical Value of 18F-FDG-PET in Autoimmune Encephalitis Associated With LGI1 Antibody

“…It has been characterized as a subacute or rapidly progressive cognitive impairment accompanied by seizures, faciobrachial dystonic seizures (FBDS), and neuropsychiatric symptoms but rarely cancer (2). FBDS are highly specific and often appear as an initial symptom of LGI1 AE (3), which mainly presents with very frequent (medially 50 times per day) and brief involuntary movements of the ipsilateral face and limbs (usually <3 s for every episode) (4). However, whether FBDS should be treated as epileptic seizures is still controversial (5).…”

Faciobrachial motor seizures: A more apt description?

“…tonic-dystonic or myoclonic-dystonic) is not unique to our patient and is reported in more than one-third of all the cases published in the literature ( Table 1 ). Of these mixed phenotypes, tonic-dystonic was the commonest phenotype [13] , [14] , [17] , [18] , [19] , followed by myoclonic-dystonic subtype [20] , [21] .…”