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
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