Clinical Neuroscience

[Sturge-Weber syndrome: clinical and radiological correlates in 86 patients]

FOGARASI András1,2,3,4, LODDENKEMPER Tobias5,6, MELLADO Cecilia6,7, TUXHORN Ingrid2,5, EVERS Georg6, SARCO Dean6, BURGESS C. Richard5, HALÁSZ Péter3, BARSI Péter3,4, GYORSOK Zsuzsanna3, GYIMESI Csilla2,4, KÓBOR Jenõ8, SIEGLER Zsuzsanna1, JANSZKY József2,4, JAKUS Rita1,3, RÁSONYI György3, EBNER Alois2, WOERMANN Friedrich2, SAHIN Mustafa6

JANUARY 25, 2013

Clinical Neuroscience - 2013;66(01-02)

[Backgrounds and purpose - To correlate the extent of the leptomeningeal angiomatosis with clinical features in Sturge- Weber syndrome (SWS). Methods - The study group consisted of 86 consecutive patients aged two months to 56 (mean 7.9±10.3) years with SWS and epilepsy. Clinical and MRI data were analyzed. Results - Based on the extent of leptomeningeal angiomatosis, patients were divided into two subgroups: 43 patients had hemispheric angiomatosis and atrophy, whereas, another 43 had focal involvement. Nine of the 43 hemispherial patients (10%) showed bilateral involvement: all of these bilateral cases demonstrated dominance in a single side with hemispheric leptomeningeal angiomatosis and contralateral focal extension. Hemispheric and focal subgroups were clinically different. Patients with hemispheric SWS were younger at the age of epilepsy onset (p<0.001) and age at MRI examination (p<0.05). Neither gender, lateralization, duration of epilepsy, appearance of secondarily generalized seizures, nor seizure frequency revealed a significant difference between subgroups. Conclusion - Bilateral involvement is frequent and occurs in cases with a hemisperic involvement on one side. The age of epilepsy onset is related to the extent of leptomeningeal angiomatosis. Patients with hemispheric form of SWS presented with earlier age of seizure onset. Focal pial angiomatoses do not tend to progress (a longer duration is not associated with more frequent hemispheric involvement). Other variables including seizure frequency and secondary generalized tonic-clonic seizures are not associated with the extent of angiomatosis.]

AFFILIATIONS

  1. Epilepsy Center, Bethesda Children's Hospital, Budapest, Hungary
  2. Bethel Epilepsy Center, Evangelisches Krankenhaus, Bielefeld, Germany
  3. Epilepsy Center, National Institute of Neuroscience, Budapest, Hungary
  4. Department of Neurology, University of Pécs, Pécs, Hungary
  5. Epilepsy Center, Cleveland Clinic Foundation, Cleveland, USA
  6. Department of Neurology, Children's Hospital and Harvard Medical School, Boston, USA
  7. Department of Paediatrics, Pontificia Universidad Catolica, Santiago, Chile
  8. Department of Paediatrics, University of Szeged, Szeged, Hungary

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Clinical Neuroscience

[The significance of high-resolution ultrasonography in the diagnosis of peripheral nerve disorders]

SCHEIDL Erika, JOSEF Böhm, FARBAKY Zsófia, DEBRECZENI Róbert, BERECZKI Dániel, ARÁNYI Zsuzsanna

[High resolution ultrasonography is an emerging technique for the investigation of peripheral nerves and is increasingly used worldwide in the diagnosis of peripheral nerve disorders, however, until now it is not widespread in Hungary. According to the literature this method is especially useful in entrapment neuropathies, traumatic peripheral nerve injuries, tumors of the peripheral nerves and sonographically guided interventions. Ultrasonography allows precise morphological analysis and quantitative measurements of the nerves providing useful complementary information to electrodiagnostic data. In entrapment neuropathies ultrasound shows nerve swelling mainly proximal to the sites of compression and a focal change of echotexture. On longitudinal scan, an abrupt caliber change and spindle-like swelling of the compressed nerve segment can be seen. Evaluation of the anatomical background and visualisation of the postoperative and posttraumatic changes provide useful information for planning of the therapy. Ultrasound may be of significant help in localizing the pathological nerve segment when it is at an electrophysiologically inaccessible site or when substantial secondary axonal loss precludes precise electrophysiological localization and it might even show pathological changes when nerve conduction studies are normal. Contrary to electrophysiological investigation ultrasonography might discover neurotmesis in the akute phase of traumatic nerve injuries indicating the necessity of surgical intervention. We provide a summary of the main indications and further application areas of this method.]

Clinical Neuroscience

[Editorial message]

KINCSES Zsigmond Tamás

Clinical Neuroscience

[Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part II: Potential causes and laboratory tests]

VADÁSZ Dávid, SZTRIHA K. László, SAS Katalin, VÉCSEI László

[Recent meta-analyses have indicated that patients with vascular disease demonstrated by laboratory tests to be aspirin or clopidogrel-resistant are at an increased risk of major vascular events. The suggested mechanisms of aspirin resistance include genetic polymorphism, alternative pathways of platelet activation, aspirin-insensitive thromboxane biosynthesis, drug interactions, or a low aspirin dose. Clopidogrel resistance is likely to develop as a result of a decreased bioavailability of the active metabolite, due to genetic variation or concomitant drug treatment. Additional work is required to improve and validate laboratory tests of platelet function, so that they may become useful tools for selection of the most appropriate antiplatelet therapy for an individual patient. Improvements in antiplatelet treatment strategies in the future should lead to a reduction in premature vascular events.]

Clinical Neuroscience

[Blood lipid peroxidation, antioxidant enzyme activities and hemorheological changes in autistic children]

LÁSZLÓ Aranka, NOVÁK Zoltán, SZÕLLÕSI-VARGA Ilona, HAI Quai Du, VETRÓ Ágnes, KOVÁCS Attila

[Objectives - Early infantile autism is a severe form of childhood psychiatric disease with characteristic symptoms. Hyperserotoninaemia in 43.5%, lactic acidosis 43% and hyperpyruvataemia in 30% were biochemically demonstrated in autistic children. Our earlier results led to the postulation that a disequilibrium in the blood redox is involved in infantile autism; the oxidative loading and the antioxidant defending enzyme system were investigated together with the hemorheological parameters in infantile autism. Methods - Malonyl-dialdehyde (MDA) endproduct of lipid peroxidation and activities of the antioxidant enzymes: superoxide dismutase (SOD), catalase (C-ase), glutathione peroxidase (GP-ase) and reduced glutathione (GSH) were biochemically determined from plasma and red blood cells. Patients - The antioxidant specificities were investigated in plasma and red blood cell haemolysate from 25 infantile autistic children. Results - Significantly increased superoxide dismutase (SOD) (2.89 vs. 1.32 U/mg protein, p<0.01) and decreased glutathione peroxidase (0.620 vs. 0.910 U/mg protein, p<0.01) levels as well as catalase (0.463 vs. 4.948 BU/mg protein, p<0.001) activities were detected; while the plasma and erythrocyte lipid peroxidation and the reduced glutathione (GSH) levels did not change. The results of the investigated prooxidant and the antioxidant status provide evidence that there exists an oxidative stress in children with infantile autism. While investigating the hemorheological parameters of 25 infantile autistic patients, some characteristic pathological parameters were detected: the initial filtration rate (Fi) (0.72 vs. 0.75 p<0,01) and the clogging rate (CR) (1.926 vs. 2.912, p<0.01) values of red blood cells (RBC) decreased while the mean transit time (Tc) (8.93 vs. 7.39, p<0.001) increased suggesting reduced RBC deformability.]

Clinical Neuroscience

[Experiences with a self developed accelerometer]

VÉR Csilla, HOFGÁRT Gergely, SZIMA Gábor, KOVÁCS GÁBOR, NYISZTOR Zoltán, KARDOS László, CSIBA László

[Objective - In neurology the objective evaluation of improvement of paresis on every-day practice. The aim of this study was to develope and test a small 3-d acceleration measuring device and validate its usefulness. Patients and methods - We collected data from 17 mild and medium severity hemiparetic, bedridden acute ischaemic and hemorrhagic stroke patients and compared with data of 22 control subjects. The devices were attached to the paretic and non-paretic extremities and any movements (m/s2) and movement-durations were registered (24h). The data of movement-monitors were compared also with the changes of National Institute of Health Stroke Scale and European Stroke Scale. The electromiograph-sensor of polysomnograph has been used for validation. Results - Mild differences could be found in the use of dominant and non-dominant upper extremities of control persons. The control persons used their upper extremities more frequently than the stroke patients. Our data showed significant correlation with National Institute of Health Stroke Scale. Higher values on the scores were accompanied with less intensive use of extremities. We found a correlation between the consiousness level of patients and their activity of upper extremities. If the patients had severe consiousness disturbances they used significantly less their upper extremities. Conclusion - Our device sensitively detected the movement-differences between paretic and non-paretic extremities and can be used for quantitative evaluation of patient's neurological and consciousness status.]

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Effects of valproate, carbamazepine and levetiracetam on Tp-e interval, Tp-e/QT and Tp-e/QTc ratio

YASAR Altun, ERDOGAN Yasar

Aim - To evaluate P-wave dispersion before and after antiepileptic drug (AED) treatment as well as to investigate the risk of ventricular repolarization using the Tpeak-Tend (Tp-e) interval and Tp-e/QT ratio in patients with epileptic disorder. Methods - A total of 63 patients receiving AED therapy and 35 healthy adults were included. ECG recordings were obtained before and 3 months after anti-epileptic treatment among patients with epilepsy. For both groups, Tp-e and Tp-e/QT ratio were measured using a 12-lead ECG device. Results - Tp-e interval, Tpe/QT and Tp-e/QTc ratios were found to be higher in the patient group than in the control group (p<0.05, for all), while QTmax ratio was significantly lower in the patient group. After 3 months of AED therapy, significant increases in QT max, QTc max, QTcd, Tp-e, Tp-e/QT, and Tp-e/QTc were found among the patients (p<0.05). When the arrhythmic effects of the drugs before and after treatment were compared, especially in the valproic acid group, there were significant increases in Tp-e interval, Tp-e/QT and Tp-e/QTc values after three months of treatment (p<0.05). Carbamazepine and levetiracetam groups were not statistically significant in terms of pre- and post-treatment values. Conclusions - It was concluded that an arrhythmogenic environment may be associated with the disease, and patients who received AED monotherapy may need to be followed up more closely for arrhythmia.

Clinical Neuroscience

[Zonisamide: one of the first-line antiepileptic drugs in focal epilepsy ]

JANSZKY József, HORVÁTH Réka, KOMOLY Sámuel

[Chronic administration of antiepileptic drugs without history of unprovoked epileptic seizures are not recommended for epilepsy prophylaxis. Conversely, if the patient suffered the first unprovoked seizure, then the presence of epileptiform discharges on the EEG, focal neurological signs, and the presence of epileptogenic lesion on the MRI are risk factors for a second seizure (such as for the development of epilepsy). Without these risk factors, the chance of a second seizure is about 25-30%, while the presence of these risk factors (for example signs of previous stroke, neurotrauma, or encephalitis on the MRI) can predict >70% seizure recurrence. Thus the International League Against Epilepsy (ILAE) re-defined the term ’epilepsy’ which can be diagnosed even after the first seizure, if the risk of seizure recurrence is high. According to this definition, we can start antiepileptic drug therapy after a single unprovoked seizure. There are four antiepileptic drugs which has the highest evidence (level „A”) as first-line initial monotherapy for treating newly diagnosed epilepsy. These are: carbamazepine, phenytoin, levetiracetam, and zonisamide (ZNS). The present review focuses on the ZNS. Beacuse ZNS can be administrated once a day, it is an optimal drug for maintaining patient’s compliance and for those patients who have a high risk for developing a non-compliance (for example teenagers and young adults). Due to the low interaction potential, ZNS treatment is safe and effective in treating epilepsy of elderly people. ZNS is an ideal drug in epilepsy accompanied by obesity, because ZNS has a weight loss effect, especially in obese patients.]

Clinical Neuroscience

[Decisional collisions between evidence and experience based medicine in care of people with epilepsy]

RAJNA Péter

[Background – Based on the literature and his long-term clinical practice the author stresses the main collisions of evidence and experience based medicine in the care of people with epilepsy. Purpose – To see, what are the professional decisions of high responsibility in the epilepsy-care, in whose the relevant clinical research is still lacking or does not give a satisfactory basis. Methods – Following the structure of the Hungarian Guideline the author points the critical situations and decisions. He explains also the causes of the dilemmas: the lack or uncertainty of evidences or the difficulty of scientific investigation of the situation. Results – There are some priorities of experience based medicine in the following areas: definition of epilepsy, classification of seizures, etiology – including genetic background –, role of precipitating and provoking factors. These are able to influence the complex diagnosis. In the pharmacotherapy the choice of the first drug and the optimal algorithm as well as the tasks during the care are also depends on personal experiences sometimes contradictory to the official recommendations. Same can occur in the choice of the non-pharmacological treatments and rehabilitation. Discussion and conclusion – Personal professional experiences (and interests of patients) must be obligatory accessories of evidence based attitude, but for achieving the optimal results, in some situations they replace the official recommendations. Therefore it is very important that the problematic patients do meet experts having necessary experiences and also professional responsibility to help in these decisions. ]

Clinical Neuroscience

[LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders]

SOÓS Zsuzsanna, SALAMON Mónika, ERDEI Katalin, KASZÁS Nóra, FOLYOVICH András, SZŰCS Anna, BARCS Gábor, ARÁNYI Zsuzsanna, SKALICZKI József, VADASDI Károly, WINKLER Gábor

[Celiac disease - in its typical form - is a chronic immunemediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.]

Clinical Neuroscience

Relationship between Status Epilepticus Severity Score and etiology in adult NCSE patients

GENC Fatma, ERDAL Abidin, AKCA Gizem, KARACAY Ertan, GÖKSU Özaydın Eylem, KUTLU Gülnihal, GÖMCELI Bicer Yasemin

Purpose - Nonconvulsive status epilepticus (NCSE) is a heterogeneous, severe neurological disorder of different etiologies. In this study, the outcomes of NCSE episodes was assessed in a large series of adult patients. Our objective was to evaluate relationship between Status Epilepticus Severity Score (STESS) and etiology and the role of etiological factors on predicting the outcomes. Method - In this retrospective study, the medical records of 95 patients over 18 years of age who were diagnosed with NCSE between June 2011 and December 2015 were reviewed. Their treatment and follow-up for NCSE was performed at the Epilepsy Unit in Department of Neurology, Antalya Research and Training Hospital. Etiological factors thought to be responsible for NCSE episodes as well as the prognostic data were retrieved. The etiological factors were classified into three groups as those with a known history of epilepsy (Group 1), primary neurological disorder (Group 2), or systemic/unknown etiology (Group 3). STESS was retrospectively applied to patients. Results - There were 95 participants, 59 of whom were female. Group 1, Group 2, and Group 3 consisted of 11 (7 female), 54 (33 female), and 30 (19 female) patients, respectively. Of the 18 total deaths, 12 occurred in Group 2, and 6 in Group 3. The negative predictive value for a STESS score of ≤ 2 was 93.88% (+LR 2.05 95% CI: 1.44-2.9 and -LR 0.3 95% CI 0.10-0.84 ) in the overall study group. While the corresponding values for Group 1 (patients with epilepsy), Group 2 (patients with primary neurological disorder), and group 3 (patients with systemic or unknown etiology) were 100%, 92.59% (+LR 2.06 95%CI: 1.32-3.21 and -LR 0.28 95% CI 0.08-1.02 ) 83.33% (+LR 1.14 95%CI: 0.59-2.9 and -LR 0.80 95% CI 0.23-2.73). Conclusions - This study included the one of the largest patients series ever reported in whom STESS, a clinical scoring system proposed for use in patients with status epilepticus, has been implemented. Although STESS appeared to be quite useful for predicting a favorable outcome in NCSE patients with epilepsy and primary neurological disorders, its predictive value in patients with systemic or unknown etiology was lower. Further prospective studies including larger NCSE samples are warranted.