Teaching NeuroImages: epilepsia partialis continua revealing PML after allogenic stem cell transplantation.
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ABSTRACT:
SUBMITTER: Andriuta D
PROVIDER: S-EPMC4534075 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Publications
Teaching NeuroImages: epilepsia partialis continua revealing PML after allogenic stem cell transplantation.
Andriuta Daniela D Tir Mélissa M Perin Bertille B Merle Philippe-Edouard PE Bryer-Le Breton Céline C Charbonnier Amandine A Constans Jean-Marc JM Godefroy Olivier O
Neurology 20150801 5
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Project description: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.
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Project description:TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality.
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Project description:BackgroundEpilepsia partialis continua (EPC) is defined as continuous myoclonic jerking of a body part of cortical origin and often resembles a movement disorder. Unfortunately, anti-epileptic therapy is frequently ineffective. Currently, the effect of botulinum neurotoxin (BoNT) therapy in EPC is controversial.MethodsWe analyzed case histories, treatment protocols, and video documentation of 5 patients with EPC, who received BoNT therapy in our movement disorders unit. The Unified Myoclonus Rating Scale was used to document treatment effects.ResultsIn all patients, BoNT treatment significantly reduced severity and frequency of myoclonus and led to pronounced improvement of speech and arm utilization, regardless of etiology or duration of EPC.ConclusionBoNT represents a safe, effective treatment in EPC, offering long-term abatement of myoclonus. The substantial functional profit may hint at mechanisms beyond local impairment of neuromuscular transmission, such as modulation of maladaptive cortical plasticity, as observed in dystonia and poststroke spasticity.
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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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Project description:Tuberculosis can present myriad manifestations, affecting multiple organ systems. Common central nervous system (CNS) manifestations include vomiting, headache, blurred vision, neck stiffness, altered sensorium, seizures, and focal neurological deficits. Epilepsia partialis continua (EPC) is a rare manifestation of CNS tuberculosis. An 11-year-old female patient presented with abnormal twitching movements on the left side, specifically involving the upper limbs, while maintaining full awareness, which is suggestive of EPC. This was preceded by symptoms such as headache, poor appetite, and abdominal pain for 3 months, along with a transient episode of weakness in the left upper limb. An electroencephalogram revealed abundant spike-wave discharges from F8 T4 and C4 P4 in the right hemisphere. The EPC was refractory to anti-seizure medications. Brain MRI revealed multiple contrast-enhancing lesions and magnetic resonance spectroscopy showed a lipid peak that suggested tuberculomas. Further investigations confirmed multisystem involvement, including the gastrointestinal and genitourinary tracts. The treatment of EPC involves addressing the underlying etiology alongside the use of anti-seizure medications. In our patient, the EPC responded well to antitubercular therapy combined with corticosteroids. Given the prevalence of tuberculosis in developing countries, it should be considered early in the differential diagnosis, as it is a treatable cause of EPC.
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Project description:The Alice in Wonderland syndrome comprises visual and/or somaesthetic distortions, most often migrainous in origin. We present a case of Alice in Wonderland syndrome in association with a right posterior/visual cortex infarction with subsequent seizures including focal motor status (epilepsia partialis continua), the latter a hitherto unreported association. These pathophysiological changes were of right hemisphere origin, suggesting Alice in Wonderland syndrome, if present, might have localising value for seizure focus in the right hemisphere.
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Project description:IntroductionCoenzyme Q10 deficiency can be due to mutations in Coenzyme Q10-biosynthesis genes (primary) or genes unrelated to biosynthesis (secondary). Primary Coenzyme Q10 deficiency-4 (COQ10D4), also known as autosomal recessive spinocerebellar ataxia-9 (SCAR9), is an autosomal recessive disorder caused by mutations in the ADCK3 gene. This disorder is characterized by several clinical manifestations such as severe infantile multisystemic illness, encephalomyopathy, isolated myopathy, cerebellar ataxia, or nephrotic syndrome.MethodsIn this study, whole-exome sequencing was performed in order to identify disease-causing variants in an affected girl with developmental regression and Epilepsia Partialis Continua (EPC). Next, Sanger sequencing method was used to confirm the identified variant in the patient and segregation analysis in her parents.Case presentationThe proband is an affected 11-year-old girl with persistent seizures, EPC, and developmental regression including motor, cognition, and speech. Seizures were not controlled with various anticonvulsant drugs despite adequate dosing. Progressive cerebellar atrophy, stroke-like cortical involvement, multifocal hyperintense bright objects, and restriction in diffusion-weighted imaging (DWI) were seen in the brain magnetic resonance imaging (MRI).ConclusionsA novel homozygous missense variant [NM_020247.5: c.814G>T; (p.Gly272Cys)] was identified within the ADCK3 gene, which is the first mutation in this gene in the Iranian population. Bioinformatics analysis showed this variant is damaging. Based on our patient, clinicians should consider genetic testing earlier to instant diagnosis and satisfactory treatment based on exact etiology to prevent further neurologic sequelae.
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