IntroductionLafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic–clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS). To date, there are four reported cases of the utility of VNS in PME — in Unverricht–Lundborg disease (ULD), myoclonic epilepsy with ragged-red fibers (MERRF), Gaucher's disease, and in one case that remained unclassified.Case presentationA 19-year-old male patient had progressive myoclonus, GTCSs that often progressed to status epilepticus (SE), progressive cerebellar and extrapyramidal symptomatology, and dementia, and his disease was pharmacoresistant. We confirmed the diagnosis of LBD by genetic testing. After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.ConclusionTo our knowledge, this is the first reported case of the utility of VNS in LBD. Vagus nerve stimulation therapy may be considered a treatment option for different clinical entities of PME. Further studies with a larger number of patients are needed.
Colloid cysts are rare benign tumors of the third ventricle with diverse clinical presentation, which vary from incidentally found cysts to acute death. An uncommon hemorrhage in these cysts is a life threatening complication which can cause obstructive hydrocephalus with acute deterioration of the patient and sudden death. We present a case of 35-year-old man with large hemorrhagic colloid cyst of a third ventricle causing acute obstructive hydrocephalus even though magnetic resonance image with low T2 signal of the cyst suggested its clinically stable nature. Only 3 cases of in vivo diagnosed hemorrhagic colloid cysts have been reported in the literature. ÖZKolloid kistler üçüncü ventrikülün nadir benign tümörleri olup tesadüfen bulunan kistlerden akut ölüme kadar çok geniş bir klinik sunum aralığına sahiptir. Bu kistlerde sık görülmeyen bir olay olan kanama obstrüktif hidrosefaliye ve sonuçta hastanın durumunda ani bozulmaya ve ölüme neden olabilen yaşamı tehdit edici bir komplikasyondur. Üçüncü ventrikülde büyük bir hemorajik kolloid kisti olup kistte düşük T2 sinyaliyle manyetik rezonans görüntülemenin klinik olarak stabil bir durum düşündürdüğü akut obstrüktif hidrosefali bulunan 35 yaşında bir erkek sunuyoruz. Literatürde in vivo tanı konmuş sadece 3 hemorajik kolloid kist vakası mevcuttur.anaHtar sÖZcÜkLer: Kolloid kist, Kanama, Üçüncü ventrikül, Hidrosefali
Background: Neuromyelitis optica (NMO) is an idiopathic, severe, inflammatory demyelinating disease of the central nervous system, that causes severe optic neuritis and myelitis attacks. Early discrimination between multiple sclerosis (MS) and NMO is important, as optimum treatment for both diseases may differ considerably.
Anti-NMDA receptor encephalitis is an acute form of brain inflammation that is potentially lethal but has a high probability for recovery with treatment. Although the clinical picture of anti-NMDAR encephalitis is usually recognizable due to its relatively well-known symptoms, the disorder can sometimes present itself in an unpredictable and atypical way. In this case report, we wish to present the influence of different delay times prior to the establishment of diagnosis. Thus, our first patient was diagnosed with anti-NMDAR encephalitis 4 years after the initial symptoms, the second one after 8 years, and the third one after 13 months. The outcomes of the three presented patients indicate the importance of being aware of many clinical presentations of this disorder, as its early diagnosis greatly affects the outcome and may reduce permanent damage, especially in cognitive functions.
Despite available pharmacological treatment methods, about 25-40% of patients suffer from pharmacoresistant epilepsy. Such patients are candidates for surgery, that is, classic resectable or minimally invasive neurosurgical treatment. Vagal nerve stimulator (VNS) as minimally invasive neurosurgical treatment is indicated for the adjuvant and palliative treatment of pharmacoresistant epilepsy [1]. The side effects of VNS are mostly transient and mild, such as paraesthesia, cough, dyspnoea, pharyngitis, hoarseness, alteration of voice, neck pain, and swallowing disorders, while laryngeal muscle spasm and obstruction of upper airways occur less frequently, as well as worsening of sleep apnoea. Bradycardia, atrioventricular block, and asystole, as the most severe side effects, are very rare [2]. In 2005 VNS was approved for the adjunctive long-term treatment of chronic or recurrent depression in adult patients experiencing a major depressive episode who had failed to respond to four or more adequate antidepressant treatments. However, the efficacy of VNS for treating depression remains unclear [3].
to evaluate the relationship between epilepsy, antiepileptic drugs (AEDs) and quality of life (QoL) in patients with epilepsy (PE), and its association with depressive symptoms and sexual dysfunction (SD). QoL was assessed by use of the Quality of Life in Epilepsy-31 Inventory (QOLIE-31), SD by the Arizona Sexual Experiences Scale (ASEX), and depressive symptoms by the Hamilton Rating Scale for Depression (HAM-D17). The study included 108 PE (women 63% and men 37% men), mean age 39.54±15.91 years. Focal type epilepsy was diagnosed in 14.8%, generalized type in 35.2%, and both types were present in 40.7% of study patients. Drug-resistant epilepsy (DRE) was present in 44/108 and vagus nerve stimulation (VNS) was implanted in 27/44 patients. The mean response on QOLIE-31 was 62.88±17.21 with no significant differences according to gender, type of epilepsy, and age. A statistically significantly lower QoL was found in the 'Overall QoL' domain (35-55 vs. <35 age group). Patients taking both types of AEDs had a significantly lower QoL compared to those on newer types of AEDs. Higher QoL was associated with less pronounced depressive symptoms (p=0.000). Significant correlations were found between lower QoL and SD (p=0.001). In 27 patients with DRE having undergone VNS, a favorable effect of VNS implantation on the QoL and mood was observed as compared with 18 patients without VNS (p=0.041).
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