Refractory Morvan syndrome responsive to rituximab: a case report and review of the literature.

Morvan Syndrome (MoS) is an autoimmune disorder characterized by peripheral nerve hyperexcitability, autonomic dysfunction, and encephalopathy. We describe the case of a man with a history of thymoma diagnosed with a paraneoplastic MoS with a severe painful neuropathy refractory to immunoglobulins and steroids who had a dramatic and lasting response following treatment with rituximab. We also reviewed the clinical features, comorbidities, laboratory findings, treatment responses, relapses, and long-term outcomes of all published cases of MoS treated with rituximab. This drug appears promising for the treatment of patients with MoS who failed first line therapy with immunoglobulins and steroids.

Rare Case of Spinal Neurosarcoidosis with Concomitant Epidural Lipomatosis.

INTRODUCTION: Spinal neurosarcoidosis is a rare disease that can manifest as myelopathy, radiculopathy, or cauda equine syndrome. Spinal epidural lipomatosis is also a rare condition resulting from overgrowth of epidural fat tissue causing compressive myelopathy. To our knowledge, there are no reports linking epidural lipomatosis and spinal neurosarcoidosis. Case Report. We describe a case of progressive myelitis in the presence of concomitant spinal neurosarcoidosis and epidural lipomatosis which was a challenging diagnosis with complete response to treatment after addressing both diseases. Both etiologies are inflammatory in nature and share similar expression of inflammatory factors such as TNF-α and IL-1ß. CONCLUSION: The common inflammatory process involved in these two diseases might explain a pathophysiological interconnection between both diseases that may underlie their concomitant development in our patient. If these two diseases are interconnected, in their pathophysiological mechanism remains a hypothesis that will need further investigation.

Absent sural responses in tethered cord syndrome.

Context: Tethered cord syndrome is a progressive condition usually diagnosed early in life, and leads to a diversity of manifestations including neurologic, urologic, and orthopedic dysfunction.Findings: We report two cases of tethered cord syndrome associated with a unilaterally absent sural sensory response on nerve conduction studies while other causes of this finding being excluded.Conclusion/clinical relevance: We believe that this finding is caused by a selective injury of sensory fibers at the level or distal to the dorsal root ganglia.

Kennedy's disease: an under-recognized motor neuron disorder.

Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. The slow progression, partial androgen insensitivity, electrophysiological evidence of sensory neuronopathy, and relatively spared central nervous system pathways help differentiate it from amyotrophic lateral sclerosis. To date, there is no treatment or cure with clinical care mainly focused on accurate diagnosis, symptom management, patient education, and genetic counselling.

Coma With Absent Brainstem Reflexes and a Burst Suppression on EEG Secondary to Baclofen Toxicity.

Baclofen, a muscle relaxant prescribed for the alleviation of symptoms of spasticity acts primarily at the spinal level but with high doses, it penetrates the blood-brain barrier and can result in prominent central nervous depression. Baclofen toxicity has been associated with a variety of symptoms ranging from dizziness to deep coma. We report the clinical course, management, and outcome of a case of baclofen overdose who presented in deep coma with loss of brainstem reflexes and a burst suppression (BS) pattern on his electroencephalogram (EEG). In addition, we reviewed the presentation and outcomes of all reported cases of baclofen toxicity with a BS pattern on EEG to evaluate if those cases share a common clinical presentation and for the presence of signs and symptoms that would help the clinician to consider this diagnosis. There appears to be a common clinical picture associated with severe baclofen toxicity consisting of deep coma associated with loss of all brainstem reflexes including pupillary reactivity, frequent association with seizures/myoclonic jerks, and a BS pattern on EEG. The outcome is generally good, and serial EEGs are recommended to document a reversal of the abnormal electrographic features.

TOAST classification and risk factors of ischemic stroke in Lebanon.

OBJECTIVES: Ischemic stroke is a common cause of morbidity and mortality especially in the increasingly older population. The variability in ischemic stroke subtypes and its risk factors across different populations suggest that more effort is needed to describe the stroke characteristics in order to develop a more tailored management for each population. We aim to describe the demographic characteristics, risk factors, and subtype distribution of subjects with ischemic stroke in the Lebanese population. MATERIALS AND METHODS: We conducted a cross-sectional study based on chart review on patients with ischemic stroke/transient ischemic attack at the American University of Beirut Medical center between 2015 and 2017. RESULTS: A total of 284 cases were included with a mean age of 72 years, and 58% male gender. The most commonly identified risk factors were hypertension (77%), dyslipidemia (62%), and diabetes mellitus (42%), while atrial fibrillation was only found in 27% of cases. The cohort distribution according to TOAST classification was as follows: 15% large artery stroke, 31% cardioembolic stroke, 17% small artery stroke, 10% stroke of other determined causes, and 27% stroke of unknown cause. CONCLUSION: This is the first study to address ischemic stroke characteristics in Lebanon.

Successful Thrombolysis in the Setting of Marfan Syndrome and Chronic Aortic Dissection.

INTRODUCTION: Thrombolysis is the standard of care in acute ischemic stroke. It is usually contraindicated in patients with aortic dissection. CASE REPORT: We report a case of Marfan syndrome and chronic aortic dissection presenting with acute ischemic stroke treated with thrombolysis. CONCLUSION: To our knowledge, this is the first case of Marfan syndrome with chronic aortic dissection undergoing thrombolysis for acute ischemic stroke with a near-complete recovery of neurological deficit and favorable long-term outcome.

Determinants of free serum valproate concentration: A prospective study in patients on divalproex sodium monotherapy.

PURPOSE: To evaluate variables affecting the valproate (VPA) free fraction and develop an equation for computing free VPA concentration from total VPA concentration. METHODS: Trough total and free VPA concentrations were collected from patients who participated in a prospective VPA monotherapy trial. All available paired data of trough total and free VPA concentrations were included. Significant variables from the univariate analysis were evaluated in a multivariate model. RESULTS: A total of 902 concomitant total and free VPA concentrations were available. Multivariate analysis showed that total VPA concentration, age and gender were significantly associated with VPA free fraction. However, the effect size of total VPA concentration was substantially higher than that of gender and age. VPA free fraction remained stable at around 10% for total VPA concentration between 20 and 60 µg/mL with subsequent linear increases for higher concentration. A scatter plot correlating total and free VPA concentrations showed that a quadratic equation best fitted the data, accounting for 88% of the free VPA concentration variance. CONCLUSIONS: An increase in the total VPA concentration results in corresponding linear and non-linear rise in the VPA free fraction and free VPA concentration, respectively. The total daily dose of VPA should be increased in smaller increments whenever a total VPA concentration of 60 µg/mL is reached. When drug monitoring is needed, we recommend measuring the free VPA concentration. If this test is unavailable, and for patients with normal albumin levels, it can be predicted from the total VPA concentration using the generated equation.

Risk factors associated with severity and location of intracranial arterial stenosis.

BACKGROUND AND PURPOSE: We sought to determine the vascular risk factors and demographic features associated with the severity and location of intracranial stenosis. METHODS: Data on patients enrolled in the Warfarin-Aspirin Symptomatic Intracranial Disease (WASID) trial were used for the analyses. Demographic features and vascular risk factors were compared in patients with moderate stenosis (n=336) versus severe stenosis (n=225) and according to the location of intracranial stenosis (middle cerebral, internal carotid, basilar, or vertebral artery). RESULTS: History of a lipid disorder (77% in severe vs 67% in moderate, P=0.01), metabolic syndrome (63% in severe vs 53% in moderate, P=0.05), and diabetes (43% in severe vs 35% in moderate, P=0.04) were more common in patients with severe intracranial stenosis by univariate analyses. A history of a lipid disorder was independently associated with severe stenosis (odds ratio=1.62; 95% CI, 1.09 to 2.42; P=0.02). The distribution of stenosis location differed among age groups (P=0.0015), sexes (P=0.0001), races (P=0.0243), qualifying events (P=0.0156), diabetes (P=0.0030), coronary artery disease (P=0.0030), and hyperlipidemia (P=0.054). Patients with basilar artery stenoses were older and more likely to have hyperlipidemia. Patients with middle cerebral artery stenoses were more likely to be women and black. Patients with internal carotid artery stenoses were more likely to have diabetes. Patients with vertebral artery stenoses were more likely to have coronary artery disease. CONCLUSIONS: History of a lipid disorder had the strongest association with severity of intracranial stenosis and should be the target of prevention therapies. Different locations of intracranial stenoses are associated with different vascular risk factors and demographic features, suggesting that there may be a difference in the underlying pathophysiology of stenoses among the intracranial arteries.

Diagnostic accuracy of thoracic paraspinal electromyography in amyotrophic lateral sclerosis.

The goal of this study was to estimate the accuracy of thoracic paraspinal (T-PSP) electromyography (EMG), performed at the time of initial evaluation, for the subsequent clinical diagnosis of amyotrophic lateral sclerosis (ALS). Medical records from a consecutive series of patients referred for suspected ALS were abstracted. Those in whom T-PSP EMG was not performed or for whom follow-up was not available were excluded. The study population included 64 patients. T-PSP EMG was abnormal in 28 (44%) study patients, 26 (93%) of whom were subsequently diagnosed with ALS. T-PSP EMG showed neither fibrillation potentials nor positive sharp waves in 36 (56%) patients, 9 (25%) of whom later developed ALS. The sensitivity of T-PSP for the diagnosis of ALS was 0.74 and the specificity was 0.93. The likelihood ratio positive was 10.5 and the likelihood ratio negative was 0.28. These results suggest that T-PSP EMG is very useful for "ruling in" the diagnosis of ALS, but less useful as a screening test for "ruling out" the diagnosis. Because T-PSP EMG is used clinically in an effort to confirm the diagnosis (and not as a screening test), these results suggest that T-PSP EMG is an extremely useful adjunct for the diagnosis of ALS.

The electromyographic diagnosis of amyotrophic lateral sclerosis: does the evidence support the El Escorial criteria?

The aim of this retrospective cohort study was to examine the accuracy of the El Escorial electromyographic criteria for the diagnosis of amyotrophic lateral sclerosis (ALS). Based on a consecutive series of 73 patients with suspected ALS, the sensitivity of electromyography (EMG) ranged from 0.2 in the cranial segment to 0.74 in the thoracic segment. Specificity was highest (0.92-1.0) in the cranial and thoracic segments. Using receiver operating characteristic (ROC) curve analysis to examine the effect of varying the number of abnormal segments required for the diagnosis, we found an overall accuracy of 0.90 and 0.87 if one or two abnormal segments, respectively, were required. The best combination of sensitivity and specificity was achieved by requiring EMG changes in two segments with abnormalities in a single muscle in the cranial and thoracic segments, but abnormalities in two muscles in the cervical and lumbosacral regions. These findings lend support to the EMG criteria proposed at El Escorial.