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.
A 62-year-old man presented with seven years of progressive dysphagia, dysphonia and difficulty in closing both eyes. His examination showed weakness and atrophy of facial and bulbar muscles without ocular involvement ( Figure A, B and C). Single-fiber electromyography revealed increased jitter ( Figure D). To evaluate for concurrent myopathy, a muscle biopsy was performed and showed angulated atrophic type II fibers, a particular finding described in patients with myasthenia gravis 1,2 ( Figure E). Acetylcholine receptor antibody was positive (2.2 nmol/L). Pronounced facial and tongue atrophy is uncommon in myasthenia gravis and usually associated with the muscle-specific receptor tyrosine kinase antibody, which was negative in this patient 3,4 .
Figure. Neutral cervical spine MRI sagittal images (A and B). In A, a T1-weighted image shows C6-T1 cord atrophy (arrowheads) and in B a T2-weighted image demonstrates slight detachment of the posterior dura mater (arrow). Flexion cervical spine MRI sagittal images (C and D). In C, a T2-weighted image reveals forward displacement of the posterior wall of the dural sac with some impression over the cord (arrow). In D, a contrast-enhanced T1-weighted image shows engorgement of the posterior epidural venous plexus, with enhancement (arrow). An 18-year-old male presented with a two-year history of bilateral hand tremulousness. Neurological examination revealed weakness in both hands, but predominantly on the right. With arms outstretched, distal mini-polymyoclonus occurred 1 . The rest of the neurological examination was unremarkable. Motor and sensory nerve conduction studies were normal. Electromyography showed fibrillations and fasciculations at rest and signs of mild chronic reinnervation in C8-T1 muscles bilaterally. Spine MRI with dynamic flexion sequences 2 revealed cervical cord atrophy, forward shifting of the posterior wall of the cervical dural sac, and contrast-enhancement of an enlarged posterior epidural compartment (Figure). This constellation of features suggests Hirayama disease.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.