Browsing by Author "Nikolić, Blažo (57192176191)"

Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The “classic” phenotype in children includes early onset generalized farmacoresistant epilepsy, developmental delay, complex movement disorders and acquired microcephaly. However, there are milder phenotypes without epilepsy which could be seen in older children. The ketogenic diet is a treatment of choice. Case report. We present a four-year- old female patient with farmacoresistant generalized epilepsy, paroxysmal dystonic posturing, ataxia, hypotonia, developmental delay (motor, attention and speech disturbances), and microcephaly. The genetic testing revealed a novel point mutation at c.156T > A (p.Y52X) in exon 3 of SLC2A1 gene. The patient responded excellent on ketogenic diet. Conclusion. GLUT1 DS is treatable, and likely to be under-diagnosed neurological disorder. The ketogenic diet is resulting in good control of seizures in the patients, and it has certain benefit for the neurodevelopmental disability. Apstrakt Uvod. GLUT1 sindrom deficijencije (GLUT1 DS, OMIM 606777) je metaboličko oboljenje mozga uzrokovano mutacijom u SLC2A1 genu (hromozom 1) koji kodira transporter glukoze tip 1 lokalizovan na krvno-moždanoj barijeri. “Klasični” fenotip kod dece uključuje ranu pojavu generalizovane farmakorezistentne epilepsije, usporen psihomotorni razvoj, poremećaje pokreta i stečenu mikrocefaliju. Međutim, blaži fenotipovi bez pojave epilepsije mogu se videti i u kasnijem uzrastu. Ketogena dijeta je terapija izbora. Prikaz bolesnika. U radu je prikazana devojčica, uzrasta četiri godine sa farmakorezistentnom generalizovanom epilepsijom, paroksizmalnim distonijama, ataksijom, hipotonijom, usporenim razvojem (poremećajima motorike, pažnje i govora) i mikrocefalijom. Genetsko testiranje je otkrilo novu tačkastu mutaciju u c.156T > A (p.Y52X) na egzonu 3 SLC2A1 gena. Kod bolesnice je primećeno poboljšanje u kliničkom nalazu na primenu ketogene dijete. Zaključak. GLUT1 DS je lečiva neurološka bolest, koja je verovatno nedovoljno prepoznata. Ketogena dijeta dovodi do povoljne kontrole napada kod dece, a doprinosi izvesnom poboljšanju u neurološkom nalazu. © 2019, Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.

Multiple sclerosis (MS) is an autoimmune, chronic, inflammatory, and demyelinating disease of the central nervous system (CNS). The etiology of MS is most likely multifactorial; it is dependent on genetic, autoimmune, and environmental factors, with a variable course among patients. The two main clinical events that characterize MS are relapses and progression. In recent years, diagnosis and treatment of pediatric MS has drawn attention of the scientific community. Management of pediatric MS focuses on reducing relapses and symptoms via administration of disease-modifying drugs (DMDs) and specific symptomatic treatment. A multidisciplinary approach to pediatric MS treatment is preferred, which aims at alleviating and preventing the accumulation of neurological deficits. MS therapy should be based on DMDs, that is, immunomodulatory drugs. These drugs, which sequester immune system activity, are further subdivided into two categories: first-line and second-line immunomodulatory therapy. First-line immunomodulatory therapy (interferon beta-1a, interferon beta-1b, and glatiramer acetate) is ineffective (either no response or partial response) in roughly 30% of patients. Patients with a poor response to first-line therapy require second-line immunomodulatory therapy (natalizumab, mitoxantrone, fingolimod, teriflunomide, azathioprine, rituximab, dimethyl fumarate, daclizumab, alemtuzumab, and ocrelizumab). In addition to immunomodulatory drugs, treatment of relapses also involves the use of high intravenous doses of corticosteroids, administration of intravenous immunoglobulins, and plasmapheresis. © The Authors.

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