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Chronic isolated hemifacial spasm as a manifestation of epilepsia partialis continua.

ABSTRACT: The objective of this case study was to describe the clinical and electroencephalography (EEG)/functional magnetic resonance imaging (fMRI) data of a case of isolated hemifacial spasm due to epilepsia partialis continua in a 59-year-old man with abnormal hemifacial movements that disappeared during voluntary tasks, were absent during sleep, and responded to carbamazepine. His neurological examination was normal; EEG revealed right inferior frontal epileptiform discharges. EEG/fMRI demonstrated increased blood oxygenation level-dependent contrast in the right inferior and middle frontal gyri corresponding to the contralateral motor and premotor cortex responsible for facial movements (BA 44, 45, 45, 9), with widespread BOLD signal deactivations suggestive of epileptic network involvement despite a very focal epileptogenic process. We hypothesize that the response of some cases of hemifacial spasm to carbamazepine, a first-line treatment in the pre-botulinum toxin era, may have been due to its antiepileptic effects, rather than to modulation of facial nerve hyperexcitability.

SUBMITTER: Espay AJ

PROVIDER: S-EPMC2235813 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Menkes disease presenting with epilepsia partialis continua.

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A unique case of nontraumatic femoral neck fracture following epilepsia partialis continua.

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Sustained Effect of Botulinum Neurotoxin in Myoclonus Owing to Epilepsia Partialis Continua.

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Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.

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Teaching NeuroImages: epilepsia partialis continua revealing PML after allogenic stem cell transplantation.

Project description: Not available

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Epilepsia partialis continua complicated by disseminated tuberculosis and hemophagocytic lymphohistiocytosis: a case report.

Project description:BackgroundWe describe a patient copresenting with epilepsia partialis continua, tuberculosis, and hemophagocytic lymphohistiocytosis. To our knowledge, this is the first documented case of this triad.Case presentationA 54-year-old black South African woman presented to a hospital in Scotland with an acute history of right-sided facial twitching, breathlessness, and several months of episodic night sweats. Clinical examination revealed pyrexia and continuous, stereotyped, right-sided facial contractions. These worsened with speech and continued through sleep. A clinical diagnosis of epilepsia partialis continua was made, and we provide a video of her seizures. Computed tomographic imaging of the chest and serous fluid analyses were consistent with a diagnosis of disseminated Mycobacterium tuberculosis. An additional diagnosis of hemophagocytic lymphohistiocytosis was made following the identification of pancytopenia and hyperferritinemia in peripheral blood, with hemophagocytosis evident in bone marrow investigation. We provide images of her hematopathology. The patient was extremely unwell and was hospitalized for 6 months, including two admissions to the intensive care unit for ventilatory support. She was treated successfully with high doses of antiepileptic drugs (benzodiazepines, levetiracetam, and phenytoin) and 12 months of oral antituberculosis therapy, and she underwent chemotherapy with 8 weeks of etoposide and dexamethasone for hemophagocytic lymphohistiocytosis, followed by 12 months of cyclosporine and prednisolone.ConclusionsThis combination of pathologies is unusual, and this case report helps educate clinicians on how such a patient may present and be managed. A lack of evidence surrounding the coexpression of this triad may represent absolute rarity, underdiagnosis, or incomplete case ascertainment due to early death caused by untreated tuberculosis or hemophagocytic lymphohistiocytosis. Further research is needed.

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Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.

Project description:Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death. NARS2 mutations are associated with mitochondrial dysfunction and cause combined oxidative phosphorylation deficiency 24 (COXPD24). Relatively few cases have been reported worldwide; therefore, the pathogenesis of COXPD24 is poorly understood. We studied two unrelated patients with COXPD24 with similar phenotypes who presented with intractable refractory epilepsia partialis continua, hearing loss, and growth retardation. One patient died from epilepsy. Three novel NARS2 variants (case 1: c.185T > C and c.251 + 2T > G; case 2: c.185T > C and c.509T > G) were detected with whole-exome sequencing. c.251 + 2T > G is located at the donor splicing site in the non-coding sequence of the gene. The minigene experiment further verified that c.251 + 2T > G caused variable splicing abnormalities and produced truncated proteins. Molecular dynamics studies showed that c.185T > C and c.509T > G reduced the binding free energy of the NARS2 protein dimer. The literature review revealed fewer than 30 NARS2 variants. These findings improved our understanding of the disease phenotype and the variation spectrum and revealed the potential pathogenic mechanism of non-coding sequence mutations in COXPD24.

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Project description: Not available

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The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

Project description:Focal status epilepticus in POLG-related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr POLG mutation, the most common pathogenic variant identified in the Caucasian population. We applied transcranial direct current stimulation (tDCS; 2 mA; 20 min) daily as an adjunctive therapy because her focal seizures failed to respond to five antiepileptic drugs at maximal doses. The electrical and clinical seizures stopped after 3 days of tDCS. The second course of tDCS was administered for 14 days when the focal seizures re-emerged a month later. The patient tolerated the procedure well. Following 4 months of hospitalization and prolonged community rehabilitation, our patient has now returned to full-time education with support, and there is no report of cognitive deficit. We have demonstrated the safety and efficacy of tDCS in treating refractory focal motor seizures caused by mitochondrial disease.

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Effect of Hemifacial Spasm on Intraocular Pressure Measurement.

Project description:PurposeTo evaluate the effect of hemifacial spasm (HFS) on intraocular pressure (IOP) measurement.MethodsTwenty-four consecutive patients with HFS and 25 age- and gender-matched randomly selected eyes of healthy volunteers underwent corneal pachymetry and IOP measurements using Goldmann applanation tonometer (GAT) and noncontact tonometer (NCT). IOP measurements were performed before (during HFS) and 2 weeks after Botox injections in HFS patients and in healthy volunteers without Botox injections.ResultsThere was no statistical difference between involved eye side and uninvolved eye side of HFS patients in measured central corneal thickness. Similarly, no difference was found between involved eye side of HFS patients and controls. There were no statistically significant differences comparing IOP values before treatment and levels measured at 2 weeks of Botox injections, either with GAT (p = 0.33, 0.11) or NCT (p = 0.80, 0.43) devices in the involved eyes and uninvolved eyes of patients with HFS, respectively. There were also no significant differences in these parameters (GAT (p = 0.63) and NCT (p = 0.54)) in controls.ConclusionsContractions in facial muscles may not lead to significant increase in IOP in HFS patients. This result may help clinical decision making in the treatment of glaucoma patients with HFS. This trial is registered with NCT03390803.

| S-EPMC5818941 | biostudies-literature

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