Özlem Çokar

A Clinical and EEG Study on Idiopathic Partial Epilepsies with Evolution into ESES Spectrum Disorders

Summary:  Purpose: Questioning the presence of any possible prognostic predictors, this study includes a long‐term follow‐up of clinical and EEG characteristics of 16 patients with idiopathic partial epilepsy (IPE) who subsequently developed epilepsy with electrical status epilepticus during slow sleep (ESES) spectrum disorders.

Non-ketotic hyperglycaemia presenting as epilepsia partialis continua

Epilepsia partialis continua (EPC) is a rare epileptic syndrome, observed in various cortical lesions and also in metabolic disorders. We report the case of a 57-year-old patient with EPC as the first manifestation of hyperosmolar non-ketotic hyperglycaemia (NKH) of diabetes mellitus. Computed tomography (CT) and magnetic resonance imaging (MRI) were normal. Initial laboratory data revealing serum glucose 1540 mg/dl, and serum osmolality 391 mOsm/l confirmed the diagnosis. Electroencephalography (EEG) showed ictal discharges in the ipsilateral hemisphere during focal seizures. Seizures are resistant to anticonvulsant treatment and respond best to insulin and rehydration. Focal motor seizures or EPC are commonly a symptom of NKH in the elderly patients. We recommend that in such cases a metabolic disorder such as diabetes mellitus be ruled out.

Interleukin (IL)-12, IL-2, interferon-γ gene polymorphisms in subacute sclerosing panencephalitis patients

Mutated measles virus variants have been claimed as the causing agent for subacute sclerosing panencephalitis (SSPE) developing several years after the recovery from measles infection. However, immune dysfunction may be considered related to a genetic susceptibility to this rare disease. Interleukin (IL)-2 -330 (rs2069762) and +160 (rs2069763), IL-12 p40 3′ UTR (rs3213113), and interferon (IFN)-γ+874 (rs2430561) polymorphisms are screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-sequence-specific priming (SSP) methods in 87 SSPE patients and 106 healthy controls (HCs) as candidate genes of susceptibility. The distribution of the IL12B genotypes (rs3213113) showed a trend for a significant difference (P = .053). The frequency of IL12B C allele (P = .04, OR: 1.6) and CC genotype (P = .03, OR: 3.2) were both higher in SSPE patients than in HC. The IL2 −330 genotypes revealed lower frequencies of GG genotype (P = .03, OR: 0.4) as well as G allele (P = .02, OR: 0.6) in SSPE. IL2 −330+160 TG haplotype was more frequent in patients (P = .005, OR: 1.8), whereas GG haplotype was less frequent, compared to controls (P = .02, OR: 0.6). IFNG +874 polymorphism revealed no difference. These findings implicate possible effects of genetic polymorphisms in the susceptibility to SSPE, which need to be confirmed in other populations.

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of nine patients with MLC. Six patients (66.6%) with moderate to severe neurological impairment had epilepsy, four with partial and two with generalised seizures. The EEG of five epileptic patients revealed epileptogenic foci over the temporal, frontal and parietal regions with variable predominance during waking and sleep. The facilitation of spike-and-wave paroxysms by eye closure, by intermittent photic stimulation and by hyperventilation were determined in four patients. Four patients also showed abnormalities in the background activity. In conclusion, we think that epilepsy is a significant component of MLC compared to the other leukodystrophies. The elucidation of the underlying molecular defect may explain the unusual pathogenetic relation between this leukoencephalopathy and the associated seizures.

Long-term outcomes in patients with West syndrome: An outpatient clinical study

PURPOSE Nearly half of all patients with seizure onset in the first year of life suffer from West syndrome (WS). The prognosis of epilepsy and psychosocial outcomes in children with WS are variable. This study was performed to examine the factors influencing the outcome of this patient population. METHODS A total of 109 patients with WS followed up regularly for at least 3 years were included in the study. Relevant clinical, laboratory, and imaging data were collected. RESULTS The male/female ratio was 65/44 (59.6%/40.4%). The mean age at onset of infantile spasm (IS) was 6 ± 6 (1-36) months. With regard to neuro-developmental and social conditions during the final evaluation, 29.4% of the patients were socially dependent on caregivers, 61.8% needed assistance, and 8.8% were normal. Among the patients, 5.9% were free of epilepsy and antiepileptic drugs (AED) for at least 2 years, 49.0% had no seizures with AEDs, and 45.1% had uncontrollable seizures. Parameters with significant negative effects on the long-term outcomes included symptomatic etiology, presence of developmental retardation before the onset of IS, persistence of active epilepsy, and male gender. CONCLUSION In this study, 37 (33.9%) patients had severe consequences as a result of WS. The majority of the rest could cope with daily life with varying degrees of assistance. Eight percent of the patients had a normal development. These results draw attention to the two-thirds of patients with WS who have the chance of an acceptable quality of life (QoL) with early diagnosis and therapeutic measures.

Cerebral Venous Sinus Thrombosis: Gender Differences in Ten Years Experience

Cerebral venous sinus thrombosis: gender differences in ten years experience Objective: Cerebral venous sinus thrombosis (CVST) is an uncommon subtype of stroke. CVST is much more common in women than men with a ratio of three to one. This women preponderance is attributed to gender-specific risk factors (GSRF). In many patients, symptoms develop over days or weeks. In some patients, clinical presentations are nonspesific. Patients and Methods: We reviewed the records of patients with CVST treated at Neurology department of Haseki Training and Research Hospital between 2001-2011, which diagnoses were confirmed with cranial magnetic resonance imaging (MRI) and magnetic resonance venography (MRV). Thirty- four patients were included the study. Women/men ratio was 3.25/1. We analyzed the demographic features, comorbid conditions, clinical presentation, neuroradiological findings. Results: Thirty- four patients were included the study. Headache was present in all patients and it was present as isolated in 47.1% (n=16) of the patients. In 52.9% (n=18) of the patients onset of the symptoms were subacute, 29.4% (n=10) chronic, 17.6 (n=6) acute. Of all patients, 76.5% (n=26) were women. Transverse sinus was the mostly affected sinus as either isolated or with the other CSVT in both groups (in 20 women and 8 men). The most common presentation symptom (43.78%) in women was headache whereas; it was intracranial hypertension (34.78%) in men. Half of our women patients with GRSF; 7 (26.92%) women were oral contraceptives user and 5 (15.38%) women were in pregnancy or puerperium period. Conclusion: We have found differences between women and men in the presentation and risk factors.

Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.

BACKGROUND  Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE. PATIENTS AND METHODS  An SNP (rs8192917, G → A, R→Q) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes. RESULTS  The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro. CONCLUSION  These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations.

Panayiotopoulos syndrome and symptomatic occipital lobe epilepsy of childhood: a clinical and EEG study

AIM Panayiotopoulos syndrome (PS) is an age-related seizure susceptibility syndrome that affects the central autonomic system. Although the majority of the few ictal recordings obtained so far suggest an occipital origin, semiological and interictal EEG data appear to favour more extensive involvement. In this study, the characteristics (including those based on semiology and EEG) of children with Panayiotopoulos syndrome (n=24) and those with lesion-related, symptomatic occipital lobe epilepsy (SOLE) (n=23) were compared. METHODS Detailed semiological information and EEG parameters including the localisation, distribution, density (n/sec), reactivity, and morphological characteristics of spike-wave foci and their relationship with different states of vigilance were compared between the two groups. RESULTS The age at seizure onset was significantly younger in patients with symptomatic occipital lobe epilepsy than in those with PS (mean age at onset: 3.4 versus 5.6 years, respectively; p=0.044). Autonomic seizures (p=0.001) and ictal syncope (p=0.055) were more frequent in PS than in symptomatic occipital lobe epilepsy (87.5% and 37.5% versus 43.5% and 13%, respectively). The interictal spike-wave activity increased significantly during non-rapid eye movement (non-REM) sleep in both groups. The spike waves in non-REM seen in PS tended to spread mainly to central and centro-temporal regions. CONCLUSIONS The results indicate that although common features do exist, Panayiotopoulos syndrome differs from symptomatic occipital lobe epilepsy and has a unique low epileptogenic threshold related to particular brain circuits.

Transoesophageal echocardiographic findings in patients with ischemic lacunar and nonlacunar stroke.

The aim of this study was to compare risk factors and concomitant potential cardioembolic sources detected by transthoracic (TTE) and transoesophageal echocardiography (TEE) in patients with lacunar and nonlacunar infarcts. Clinical data of 139 patients with a first episode of ischemic stroke who underwent both TTE and TEE were analysed. Patients were divided into two groups, lacunar (LACI=36), and nonlacunar infarcts (NLACI=103); then the latter group was divided into two subgroups, anterior (ACI=76) and posterior circulation infarct (POCI=27). Presence of hypertension and diabetes mellitus were not significantly different between LACI and NLACI groups. The rate of potential cardioembolic risk factors detected by echocardiography was similar in the NLACI groups. At least one potential cardiac source of embolism was identified in 44% (n=16) of LACI, 52.6% (n=40) of ACI and 55.5% (n=15) of POCI patients. Atrial fibrillation was significantly frequent in the ACI group. No significant differences were found between all groups regarding age, sex, hyperlipidemia, and smoking. Our findings demonstrate that hypertension and diabetes mellitus are equally important in the pathogenesis of both LACI and NLACI groups and there is a need for careful cardiac evaluation in cases even with lacunar infarct.

Holter Monitorisation Results in Early Period of Acute Ischemic Stroke

Introduction Paroxysmal atrial fibrillation (PAF) has a similar risk with persistent AF for ischemic stroke. Holter monitorization (HM) and other long-term monitorization methods increased the detection of PAF and short-lasting runs of tachyarrhythmias. Their classification as PAF and roles in the etiology of ischemic stroke is controversial. In this study, we aimed to investigate the frequency of any duration of PAF and clinical characteristics of the patients with acute ischemic stroke who have undergone 24-hrs HM. Methods Patients with acute ischemic stroke and transient ischemic attack (TIA) hospitalized in the Neurology ward and undergone 24-hrs of HM during their hospital stay were included in the study. HM reports, clinical, and laboratory characteristics were analyzed, retrospectively. Patients were grouped into three based on HM: 1st group, without PAF; 2nd group, PAF >30 seconds (s) and 3rd group, PAF<30s. Results PAF of any duration was detected in 18.8% (n=49) of 261 patients. The duration of PAF was <30s in 16.1% (n=42) and >30s in 2.7% (n=7) of the patients. The mean age, left atrium diameter and CHA2DS2-VASc scores of the second group were significantly higher than the first group (p<0.001, p<0.001 and p=0.007; respectively). The mean age, left atrium diameter, modified Rankin Scores (mRS), and CHA2DS2-VASc scores of the third group were significantly higher than the first group (p<0.001; for all). There was no difference between the second and the third groups in means of mean age, left atrial diameter, MRS, and CHA2DS2-VASc scores (p<0.017, for all). Conclusion In this study, 24-hrs HM in the early period of acute ischemic stroke results yielded a high frequency of PAF<30s and predictive features were in parallel with the literature.