Neurological Manifestation of Fabry Disease – A Case Report

Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme a-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vessels, renal epithelial cells, cardiac myocytes and numerous neuronal cells. In this report, we present 20-year-old male patient with ischemic stroke in pons. The case had previously been misdiagnosed as polimyositis and vasculitis. Angiokeratomas, neuropathic pain and ischemic stroke in young age suggested a Fabry disease. The diagnosis was confirmed biochemically and genetically. All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease

Utjecaj trajanja i tipa šećerne bolesti na moždanu hemodinamiku

A group of 100 patients aged 48-67 years, with a diagnosis of diabetes mellitus, and control group of 100 healthy subjects were examined by transcranial Doppler sonography, a modern and sophisticated diagnostic method for visualization of hemodynamic changes in basal cerebral arteries in real time. The aim of the study was to determine hemodynamic changes in cerebral arteries in diabetic patients, and to analyze the effect of duration and type of diabetes on cerebrovascular disease. The rate of transcranial Doppler sonography abnormalities was statistically significantly higher in diabetic patients than in control subjects (55% vs. 11%, 2=, p<0.05). The duration and type of diabetes were found to have an impact on the development of pathologic cerebrovascular changes. Hemodynamic impairments were more common in type 1 than in type 2 diabetes patients (72.5% vs. 43.3%). The study suggested the duration of diabetes to predict for the development of atherosclerotic processes in cerebral vessels. Atherosclerotic changes were found in 34.0% and 71.4% of patients suffering from diabetes for <5 and ≥5 years, respectively. In all diabetic patients, signs of cerebral microangiopathy were significantly more commonly recorded than those of cerebral macroangiopathy.Transkranijska Doplerska sonografija, vrhunska dijagnostička metoda za prikaz hemodinamskih promjena u bazalnim moždanim arterijama u stvarnom vremenu, primijenjena je u 100 bolesnika u dobi između 48 i 67 godina s dijagnozom šećerne bolesti, te u kontrolnoj skupini od 100 zdravih ispitanika. Cilj istraživanja bio je utvrditi hemodinamske promjene u moždanim arterijama u dijabetičnih bolesnika, te utjecaj trajanja i tipa šećerne bolesti na razvoj cerebrovaskularne bolesti. Nađena je statistički značajno veća zastupljenost patoloških nalaza transkranijske doplerske sonografije u dijabetičnoj skupini negoli u kontrolnoj skupini (p<0,05). Utvrđeno je da trajanje i tip dijabetesa utječu na razvoj patoloških promjena na moždanim arterijama. Bolesnici s dijabetesom tip 1 češće su imali hemodinamske promjene negoli oni s dijabetesom tip 2 (72,5% prema 43,3%). S druge strane, istraživanje je pokazalo da je trajanje šećerne bolesti značajan predskazatelj razvoja cerebrovaskularne bolesti. Aterosklerotske promjene nađene su u 34% dijabetičara koji su bolovali od dijabetesa kraće od 5 godina, te u 71,4% onih koji su od dijabetesa bolovali 5 godina i duže. U svih dijabetičnih bolesnika znatno su češće nađeni znaci cerebralne mikroangiopatije negoli makroangiopatije

Bol u multiploj sklerozi

Multiple sclerosis (MS) is a disease of the central nervous system (CNS), beginning most often in late adolescence and early adult life and expressing itself by reccurrent attacks of spinal cord, brainstem, cerebellar, optic nerve and cerebral dysfunction, the result of foci of destrucion of myelinated fibers. Neuropathic pain, such as trigeminal neuralgia might be one of the first symptoms of multiple sclerosis. In this retrospective study we evaluated 290 patients who have been hospitalised at Department of neurology in last three years. According to the results of our study 70% had either an acute or chronic pain syndrome at some time during their disease. Between them 2.7% with acute pain syndroms had episodes of paroxismal pain attacks in distribution of trigeminal nerve. Chronic pain syndromes, occured in 58% of patients and included headache (25%), low back pain (35%) and painful leg spasms in 20% of patients. Our patients were treated with nesteroid antireumatic drugs in case of nociceptive pain, but neuropathic pain was treated with combination of antidepressive and antiepileptic drugs.Multipla skleroza je kronična, demijelinizirajuća bolest koja se najčešće javlja u osoba mlađe životne dobi. Smatra se da je pojava multiple skleroze rezultat međudjelovanja genetskih i čimbenika okoliša. Dugo se smatralo da multipla skleroza nije povezana s pojavom boli, iako su rezultati istraživanja pokazali da neuropatska bol, poput neuralgije trigeminusa može biti jedan od prvih simptoma bolesti. Cilj ovog istraživanja bio je utvrditi prevalenciju i periodu bolnih stanja u bolesnika oboljelih od MS-a, a koji su bili liječeni na Klinici za neurologiju, KB «Sestre milosrdnice». U vremenskom periodu od tri godine obuhvatili smo 290 bolesnika. Od akutnog ili kroničnog bolnog sindroma patilo je 70% pacijenata. Dvanaest pacijenata (2.7%) s akutnim bolnim stanjem imalo je paroksizmalne bolne atake u području trigeminalnog živca. Kronični bolni sindrom dijagnosticiran je u 58% bolesnika i uključivao je razne oblike glavobolje (20%), bol lumbosakralnom dijelu kralježnice (20%) te bolne spazme u 4% bolesnika. Bolesnici su liječni nesteroidnim antireumaticima u slučaju nociceptivne boli. Neuropatska bol je liječena adjuvantnim lijekovima, najčešće kombinacijom antiepileptika i antidepresiva. Na temelju rezultata ove retrospektivne studije vidljivo je da su akutni i kronični bolni sindromi prisutni u velikom broju bolesnika oboljelih od MS-e te da terapija svakog bolesnika mora biti individualizirana

Epidemiology of stroke

The epidemiology of stroke may be changing over time as a result of a number of factors, including an aging population and advances in the prevention and treatment of stroke. Epidemiological indicators and research of stroke have great significance in estimating the impact of this disease on the population. Such research states the distribution of this illness and factors by which it is influenced, follows short-term and long-term consequences, as well as socio-economic burden of stroke for the whole community. Data on stroke prevalence is important for creating the right strategies for health care in a specific area. Stroke-relatedmortality in any population is dependent upon three main factors: the incidence of stroke in the population, quality ofmedical care available, and the prevalence of cardiovascular diseases and comorbidities that can affect the likelihood of surviving stroke events. The quality of medical care available influences both the number of individuals suffering from stroke and the proportion of case-fatality among them. Epidemiological data shows that stroke is one of the leading causes of death and long-term disability in most industrialized populations, and the same is true for Croatia. The existing systemof health care for stroke patients does not meet the needs and is not in accordance with latest trends in developed countries.Hence, there is a need for its reorganization and design of the national project for stroke prevention and treatment similar to those in European countries with favorable epidemiological data

HOSPITALIZATION OF CHILDREN WITH TRAUMATIC BRAIN WOUNDS IN BROD - POSAVINA COUNTY

Traumatske ozljede mozga (TOM) su jedan od vodećih uzroka stečene nesposobnosti i smrti djece. Retrospektivnom analizom utvrđeno je 350 djece, 128 (36,6%) djevojčica i 222 (63,4%) dječaka, hospitalizirane zbog ozljeda neurokranija u 5-godišnjem razdoblju u Općoj bolnici «Josip Benčević» u Slavonskom Brodu. Najviše je ozlijeđene djece imalo istodobno kontuziju i komociju (46,8%), zatim samu kontuziju glave (12,5%), te frakture kosti lubanje (10,5%). Rjeđa su bila krvarenja i hematomi (epiduralni, subduralni, subarahnoidna hemoragija) (3,2%). Analiza obrade je pokazala da je u gotovo sve djece učinjena rentgenska pretraga (99,7%). Najčešće je učinjen RTG glave (kraniogram) i/ili vratne kralježnice, zatim CT, EEG, UZV, te NMR. Pojava komplikacija zabilježena je u samo 2% ozljeđene djece (epileptički napadi, sinkopa, febrilne konvulzije). Praćenje kirurških zahvata pokazalo je da je u većine djece (89,6%) liječenje provedeno konzervativno. Dužina liječenja ozlijeđene djece najčešće je iznosila 2 dana (34,5%) ili 3 dana (32,5%), dok je duže liječenje bilo rjeđe. S obzirom na dodatnu konzultaciju drugih specijalista (uz neurokirurga) najčešće je konzultiran pedijatar, kirurg/traumatolog, specijalist ORL/maksilofacijalne kirurgije, neuropedijatar, dječji kirurg, oftalmolog i dr. Može se reći da prognoza TOM u djece ovisi o dobi, neurološkom statusu i vrsti ozljede, te kvaliteti skrbi koja uključuje dostupnost neurokirurga i drugih specijalista.Traumatic brain injury (TBI) is the most common cause of acquired disability and death in children. Retrospective analysis showed 350 children, 128 (36.6%) girls and 222 (63.4%) boys who were hospitalized for injury of neurocranium in a 5 year-period in Dr. Josip Benčević General Hospital in Slavonski Brod. Most of them had both contusion and commotion (46.8%), followed by just contusion of the head (12.5%) and fractures of the skull (10.5%). The haemorrhages and hemathomas were less common (epidural, subdural, SAH) (3.2%). The procedures performed showed that in almost all children X-rays had been performed (99.7%). The most commonly X-rays performed were those of the head (craniogram) and/or cervical spine, followed by CT, EEG, ultrasound and NMR. The occurence of complications was recorded in only 2% of injured children (seizure, syncopa, febrile convulsions). Analysis of treatment methods showed that in most children (89.6%) therapy was conservative. The injured children were hospitalizated mostly for 2 days (34.5%) or 3 days (32.5%), while longer hospitalization was less common. Regarding extra consultation of other specialists (besides neurosurgeons), the most commonly consulted were pediatrician, surgeon/traumatologist, specialist of ENT/maxilofacial surgery, neuropediatrician, pediatric surgeon, ophthalmologist and others. It can be said that the prognosis of TBI in children depends on the age, neurological status and kind of injury, and on the quality of care, which involves availability of neurosurgeons and other specialists

Neuropatska bol

Neuropathic pain refers to pain that originates from pathology of the nervous system. Common causes of neuropathic pain are diabetes mellitus, reactivation of herpes zoster, nerve compression or radiculopathy, alcohol, chemotherapy or abuse of some drugs, and trigeminal neuralgia. Specific symptoms of neuropathic pain are mechanical allodynia and cold hyperalgesia. Drugs to treat neuropathic pain can be divided into adjuvant analgesics (antidepressants and anticonvulsants), opioids and topical agents. The use of multiple drug therapies is common in practice. Despite considerable increase in the number of randomized placebo-controlled trials in neuropathic pain in the last few years, the medical treatment of neuropathic pain is still far from being satisfactory, with less than half of patients achieving significant benefit with any pharmacological drug.Neuropatska bol nastaje kao posljedica disfunkcije perifernog ili središnjeg živčanog sustava. Najčešći uzroci neuropatske boli su dijabetes melitus, reaktivacija infekcije herpes zoster, kompresija živaca ili radikulopatija, pretjerana konzumacija alkohola, kemoterapija ili zlouporaba lijekova te neuralgija trigeminusa. Specifični simptomi neuropatske boli su mehanička alodinija i hladna hiperalgezija. U liječenju neuropatske boli rabi se nekoliko skupina lijekova. U prvu skupinu spadaju adjuvantni lijekovi, a to su antidepresivi i antiepileptici, opioidi i lokalna sredstva. U praksi se najčešće rabi kombinacija dviju ili vise vrsta lijekova. Unatoč brojnim randomiziranim, placebom kontroliranim studijama na području neuropatske boli medikamentno liječenje neuropatske boli jos uvijek nije zadovoljavajuće, te se zadovoljavajuća analgezija postiže u samo 50% bolesnika s neuropatskom boli

Neuropatska bol

Neuropathic pain refers to pain that orginates from pathology of the nervous system. Common causes of neuropathic pain are diabetes mellitus, reactivation of herpes zoster, nerve compression or radiculopathy, alcohol, chemotherapy or abuse of some drugs and trigeminal neuralgia. Specific symptoms of neuropathic pain are mechanical allodynia and cold hyperlgesia. Drugs to treat neuropathic pain can be divided into adjuvent analgesics (antidepressants and anticonvulsants), opioids and topical agents. The use of multiple drug therapies is common in practice. Despite considerable increase in the number of randomized placebo-controlled trials in neuropathic pain over the last few years, the medical treatment of neuropathic pain is still far from being satisfactory, with kless than half of patients achieving signifi- cant benefit with any pharmacological drug.Neuropatska bol nastaje kao posljedica disfunkcije perifernog ili centralnog živčanog sustava. Najčešći uzroci neuropatske boli su diabetes melitus, reaktivacija herpes zoster infekcije, kompresija živaca ili radikulopatija, pretjerana konzumacija alkohola, kemoterapija ili zlouporaba lijekova te neuralgija trigeminusa. Specifični simptomi neuropatske boli su mehanička alodinija i hladna hiperalgezija. U liječenju neuropatske boli koristi se nekoliko skupina lijekova. U prvu skupinu spadaju adjuvantni lijekovi, a to su antidepresivi i antiepileptici, opioidi i topički agensi. U praksi se najčešće koristi kombinacija dvije ili više vrsta lijekova. Unatoč brojnim randomiziranim, placebo-kontroliranim studijama na području neuropatske boli, medikamentozno liječenje neuropatske boli još uvijek nije zadovoljavajuće, te se samo u 50% pacijenata sa neuropatskom boli postiže zadovoljavajuća analgezija