Current Journal of Neurology
Volume:13 Issue: 4, Autumn 2014

The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

Susac’s syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated endotheliopathy. Because of its rarity and some similarities to other common neurological conditions such as multiple sclerosis and acute disseminated encephalomyelitis, it is often misdiagnosed and therefore mistreated. To the best of our knowledge, there is only one case report from our country with this diagnosis. Here, we have a short discussion on this issue to introduce it to our colleagues and remind it as a differential diagnosis in patients with unexplained encephalopathy.

Gender difference has been reported in stroke risk factors and disease history. The aim of this study was to compare risk factors and the severity of ischemic stroke based upon modified Rankin Scale (mRS) and hospital mortality between two genders. In a cross-sectional study, 341 patients (44% males and 56% females with a mean age of 68.94 ± 12.74 years) with ischemic stroke, who were hospitalized in the neurology wards of two referral university hospital of North-West Iran (Imam Reza and Razi Hospitals), from the beginning to the end of 2011 were selected and assessed. Gender difference in terms of demographic findings, vascular risk factors, 7th day mRS, and hospital mortality (during admission) were evaluated. In 2.6% of cases, mRS was found to be less than 2 (favorable) and in 97.4% of cases; mRS was 2-5 (with disability). No significant difference in ischemic stroke severity based on mRS was observed between two genders. There was a significant difference in the rate of hypertension (females = 72.3%, males = 59.3%, P = 0.010), diabetes (females = 28.8%, males = 18.7%, P = 0.030), smoking (females = 6.3%, males = 35.3%, P < 0.001). No significant difference was seen in other risk factors between two genders. There was no significant difference in the mortality rate, which constituted 8.9% and 4.7% in females and males respectively (P = 0.140). The evidence from the present study suggests that despite the existence of some difference between risk-factors in two genders, there was no difference in terms of ischemic stroke severity and mortality rate between two genders.

Assessment of quality-of-life (QOF) as an outcome measure after deep brain stimulation (DBS) surgery in patients with Parkinson’s disease (PD) need a valid, reliable and responsive instrument. The aim of the current study was to determine responsiveness of validated Persian version of PD questionnaire with 39-items (PDQ-39) after DBS surgery in patients with PD. Eleven patients with PD, who were candidate for DBS operation between May 2012 and June 2013 were assessed. PDQ-39 and short-form questionnaire with 36-items (SF-36) were used. To assess responsiveness of PDQ-39 standardized response mean (SRM) was used. Mean age was 51.8 (8.8) and all of the patients, but just one were male (10 patients). Mean duration of the disease was 8.7 (2.1) years. Eight patients were categorized as moderate using Hoehn and Yahr (H and Y) classification. All patients had a better H and Y score compared with the baseline evaluation (3.09 vs. 0.79). The amount of SRM was above 0.70 for all domains means a large responsiveness for PDQ-39. Persian version of PDQ-39 has an acceptable responsiveness and could be used to assess as an outcome measure to evaluate the effect of therapies on PD

Role of atherosclerosis in the pathogenesis of ischemic and hemorrhagic infarctions is still matter of debate. Intima-media thickness (IMT) of the common carotid artery (CCA) and internal carotid artery (ICA) are markers of atherosclerosis. The aim of this study was to compare CCA IMT and ICA IMT of patients with ischemic and hemorrhagic infarction. Two equal groups of 80 patients with small and large vessel ischemic stroke and 80 patients with non-traumatic intracerebral hemorrhage (ICH) who referred to our central teaching hospital of Zahedan were assessed in this descriptive study. IMT of four arteries (right and left CCA and ICA) were measured, and collected data were analysis using Student’s t-test. There were 137 males (57.1%) and 103 (42.9%) female with mean age of 62.7 ± 11.7. Mean right CCA IMT of patients with small vessel diseases (SVD), large vessel diseases (LVD), and ICH were 0.564 ± 0.130, 0.623 ± 0.150, and 0.580 ± 0.140 mm, respectively (P = 0.032). Mean left CCA IMT of patients with SVD, LVD, and ICH were 0.569 ± 0.120, 0.618 ± 0.120, and 0.573 ± 0.130 mm, respectively (P = 0.039). The above findings for right ICA were 0.572 ± 0.120, 0.569 ± 0.140, and 0.522 ± 0.130 mm, respectively (P = 0.145). Those findings for left ICA IMT were 0.525 ± 0.110, 0.554 ± 0.120, and 0.527 ± 0.120 mm, respectively (P = 0.257). Our findings showed that by using CCA IMT, differentiation between small and large vessel infarctions and hemorrhagic infarctions can be made.

Intracerebral hemorrhage (ICH) is the most fatal subtype of stroke. Despite limited effective therapy, there is no accepted clinical grading scale to predict in-hospital mortality, especially in developing nations. The purpose of this study was to assess the predictors of in-hospital mortality among a sample of Iranian patients with spontaneous ICH for use at the time of the first evaluation. This prospective study was carried from January 2010 to the end of January 2011. Demographic, clinical, and laboratory data of ICH patients were collected. Hematoma volume and perihematoma edema (PHE) were measured on brain computed tomography scan using ABC/2 formula. Logistic regression analysis was performed to determine independent variables contributing to in-hospital mortality. Of a total 167 consecutive ICH patients, 98 patients met inclusion criteria. Mean ± standard deviation age of patients was 70.16 ± 12.52. After multivariate analysis, five variables remained as independent predictors of in-hospital mortality included: age [odds ratio (OR) = 1.12, 95% confidence interval (CI) = 1.03-1.23, P = 0.009], diabetes mellitus (OR = 10.86, 95% CI = 1.08-109.24, P = 0.009), National Institutes of Health Stroke Scale (NIHSS) score (OR = 1.41, 95% CI = 1.08-1.68, P ≤ 0.001), as well as volume of hematoma (OR = 1.1, 95% CI = 1.03-1.17, P = 0.003), and PHE (OR = 0.75, 95% CI = 0.60-0.93, P = 0.010). Our results indicate that older age, diabetes mellitus, higher NIHSS, as well as larger volume of hematoma, and smaller PHE on admission are important predictors of in-hospital mortality in our ICH patients.

Several factors influence on the outcome of ischemic stroke. The aim of this study was determination the relationship between stroke mortality and red blood cell parameters. This cross-sectional study was conducted from 2011 July to June 2012. For all patients with ischemic stroke in middle cerebral artery (MCA) territory, the cell blood count test was performed. We recorded their mortality on the 1st week and the 1st month after ischemic stroke. Data analysis was performed using t-test, χ2, Mann–Whitney U-test, logistic regression and receiver operating characteristic curve in SPSS for Windows 19.0. A total of 98 subjects (45.9% men and 54.1% women) with the mean age of 71.0 ± 13.9 years were assessed, while 67.3% of them were anemic. The prevalence of 1st week mortality among anemic and non-anemic patients was 40.9% and 34.4% (P = 0.534). The prevalence of mortality after 1st week till 1st month was 19.6% and 21.0% respectively (P = 0.636). In univariant analysis, only 1st month mortality had a significant relationship with red blood cell (RBC) count (P = 0.022). However, the result of logistic regression model showed that RBC (P = 0.012) and mean corpuscular volume (MCV) (P = 0.021) remained as predictors of the 1st week and the 1st month mortality (P = 0.011 and P = 0.090 respectively). The best cutoff point of RBC for the prediction of the 1st week mortality with 44.7% specificity and 69.5% sensitivity was estimated 4.07 million/μl and for the 1st month mortality with 46.6% specificity and 72.2% sensitivity was estimated 4.16 million/μl. The RBC count and MCV are independent predictors of ischemic stroke short-term mortality.

Restless legs syndrome (RLS) is the most common movement disorder in pregnancy, which can be idiopathic or secondary. There are limited comparative data regarding these two forms of RLS. The aim of this study was to compare clinical features of idiopathic and secondary RLS in pregnant women. Over a period of 3 months, 443 women who admitted for delivery in two clinical centers were screened for RLS using four diagnostic criteria of the international RLS study group. A total of 79 subjects diagnosed with RLS were consecutively enrolled in the present study. All of them were interviewed for medical history and complaints during pregnancy and responded to self-administer international RLS rating scale. Ten subjects (12.9%) out of 79 pregnant women with RLS had idiopathic form, and their mean age was significantly higher than patients with secondary RLS (30.6 ± 7.3 years vs. 26.4 ± 4.6 years, P = 0.0260). Compared with women with secondary RLS, sleep duration in pregnancy was significantly decreased in idiopathic RLS group (P = 0.0460), whereas RLS severity score was similar in both groups. No significant difference was observed between the two groups in terms of other sleep complaints, the positive family history of RLS, parity, duration of pregnancy, or frequency of cesarean section (P > 0.0500). Idiopathic and secondary RLS have relatively similar courses and features during pregnancy. However, the idiopathic form may have more negative impact on sleep in pregnancy. Careful screening and effective treatment of idiopathic RLS before pregnancy is recommended to limit these disturbances.

We studied the role of cerebrospinal fluid (CSF) tap test at idiopathic normal pressure hydrocephalus (INPH) in improving cerebral blood flow velocity indices by transcranial Doppler (TCD) sonography. Twelve patients with assumed INPH were included in the study. The CSF tap test and INPH grading score was carried out according to the standard protocol. TCD was performed before and after the tap test for assessing blood flow in middle cerebral and anterior cerebral arteries. Five INPH patients (41.7%) had clinical improvement as defined by at least one point reduction in INPH grading scale. The baseline TCD parameters of the middle cerebral artery were significantly higher compared with the control, and those parameters were decreased after tap test in those who improved. Our study showed that improvement in INPH grading score after CSF tap test might correlate with changing in TCD parameter in MCA and TCD parameter might be useful for shunt response in these patients.

Neurotologic signs and symptoms, especially vestibular symptoms are common in migrainous patients. Involvement of the visual system in migrainures has received a great deal of attention in recent years, but the oculomotor part of the visual system has been largely ignored. The goal of this study was to investigate some parts of the central vestibular system using the oculomotor part of videonystagmographic evaluation, including spontaneous nystagmus, gaze-evoked nystagmus, smooth pursuit, saccade and optokinetic ystagmus interictally in migrainous patients. In this case–control study, 30 patients with migraine and 38 healthy volunteers within the age range of 18-48 years old were included spontaneous nystagmus; gaze-evoked nystagmus in right, left and up sides, smooth pursuit, optokinetic nystagmus using three different velocities and saccade test performed in both groups. The data were analyzed using SPSS for Windows 18.0. Some parameters of gain and phase and also morphology of the smooth pursuit, velocity of the saccade and slow phase velocity of optokinetic were significantly different in migrainures, although the statistical differences of these parameters were not clinically important as they were in the normal range of a defined device. These results may suggest the presence of subtle otoneurologic abnormalities in migrainous patients that is probably due to the efficiency of oculomotor function with vestibulocerebellar origin.