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

[Early mental test - developing a screening test for mild cognitive impairment]

KÁLMÁN János, PÁKÁSKI Magdolna, HOFFMANN Ildikó, DRÓTOS Gergely, DARVAS Gyöngyi, BODA Krisztina, BENCSIK Tamás, GYIMESI Alíz, GULYÁS Zsófia, BÁLINT Magdolna, SZATLÓCZKI Gréta, PAPP Edina

[Background and purpose - Mild cognitive impairment (MCI) is a heterogenous syndrome considered as a prodromal state of dementia with clinical importance in the early detection of Alzheimer’s Disease. We are currently developing an MCI screening instrument, the Early Mental Test (EMT) suitable to the needs of primary care physicians. The present study describes the validation process of the 6.2 version of the test. Methods - Only subjects (n=132, female 95, male 37) over the age of 55 (mean age 69.2 years (SD=6.59)) scoring at least 20 points on Mini-Mental State Examination (MMSE), mean education 11.17 years (SD=3.86) were included in the study. The psychometric evaluation consisted of Alzheimer’s Disease Assessment Scale Cognitive subscale (ADAS-Cog) and the 6.2 version of EMT. The statistical analyses were carried out using the 17.00 version of SPSS statistical package. Results - The optimalised cut-off point was found to be 3.45 points with corresponding 69% sensitivity, 69% specificity and 69% accuracy measures. The Cronbach-α, that describes the internal consistence of the test was 0.667, which is higher as compared with the same category in the case of the ADASCog (0.446). A weak negative rank correlation was found between the total score of EMT 6.2 and the age of probands (rs=-0.25, p=0.003). Similarly, only a weak correlation was found between the education levels and the total score of EMT 6.2 (rs=0.31, p<0.001). Two of the subtests, the repeated delayed short-time memory and the letter fluency test with a motorical distraction task had significantly better power to separate MCI and control groups than the other subtests of the EMT. Conclusion - The 6.2 version of EMT is a fast and simple detector of MCI with a similar sensitivity-specificity profile to the MMSE, but this version of the test definitely needs further development.]

Clinical Neuroscience

[The presentation of a transient hyperintense lesion with legionnaires disease in a patient, is it a coincidance or an incidental finding?]

KILIC Çoban Eda, AKSOY Selma, SAHIN Riza Ahmet, UZUN Nuray, GÖKYIGIT Münevver

[Up to date the presentation of transient splenial lesions in corpus callosum were reported in diffusion weighted magnetic resonance imaging (MRI) only in epileptic patients and patients under antiepileptic therapy. A 41 year old male with no previous medical history was admitted to our clinic with symptoms of pneumonia. The neurological exam revealed stupor, but when awake his speech and orientation were normal. There were no meningeal irritation signs, cranial nerves, piramidal and cerebellar functions were normal. He had moderate respiratory distress and had bilateral rales in lower lobes while oscultating. Laboratory tests revealed high liver function levels and high acute phase reactants. Arterial blood levels showed hypoxemia. A brain MRI showed a hypointensity in the splenium of corpus callosum on T1 weighted images. There was markedly increased signal in this region on diffusion weighted imaging and hypointense on ADC. The lesion was slightly hyperintense on T2 and FLAIR weighted images. A repeat brain MRI was done 30 days after the initial study and showed a complete resolution of the splenial lesion. Transient splenial lesions can be seen due to different mechanisms in different clinical settings. It should be noted that these lesions are mostly reversible. Unnecessary therapies and procedures should be avoided in these lesions.]

Clinical Neuroscience

[Editorial message]

KINCSES Zsigmond Tamás

Clinical Neuroscience

[Meeting of the management of Hungarian Epilepsy League]

SZUPERA Zoltán

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.]

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[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

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

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[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

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[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

EEG-based connectivity in patients with partial seizures with and without generalization

DÖMÖTÖR Johanna, CLEMENS Béla, EMRI Miklós, PUSKÁS Szilvia, FEKETE István

Objective - to investigate the neurophysiological basis of secondary generalization of partial epileptic seizures. Patients and methods - inter-ictal, resting-state EEG functional connectivity (EEGfC) was evaluated and compared: patients with exclusively simple partial seizures (sp group) were compared to patients with simple partial and secondary generalized seizures (spsg group); patients with exclusively complex partial seizures (cp group) were compared to patients with cp and secondary generalized seizures (cpsg group); the collapsed sp+cp group (spcp) was compared to those who had exclusively secondary generalized seizures (sg group). EEGfC was computed from 21-channel waking EEG. 3 minutes of waking EEG background activity was analyzed by the LORETA Source Correlation (LSC) software. Current source density time series were computed for 23 pre-defined cortical regions (ROI) in each hemisphere, for the 1-25 Hz very narrow bands (1 Hz bandwidth). Thereafter Pearson correlation coefficients were calculated between all pairs of ROI time series in the same hemisphere. Z-scored correlation coefficients were compared at the group level (t-tests and correction for multiple comparisons by local false discovery rate, FDR). Results - Statistically significant (corrected p<0.05) EEGfC differences emerged at specific frequencies (spsg > sg; cpsg > cp), and at many frequencies (sg > spcp). The findings indicated increased coupling between motor cortices and several non-motor areas in patients with partial and sg seizures as compared to patients with partial seizures and no sg seizures. Further findings suggested increased coupling between medial parietal-occipital areas (structural core of the cortex) and lateral hemispheric areas. Conclusion - increased inter-ictal EEGfC is associated with habitual occurrence of secondary generalized seizures.