Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The ...estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types. Classification of HSP is based on inheritance pattern, clinical phenotype, and molecular pathophysiological mechanisms. The most common neuropathological sign is the axonal degeneration involving the lateral corticospinal tracts in both the cervical and thoracic spinal cord. The target of this review article is to provide a comprehensive overview of the HSP classification, neuropathology, and differential diagnosis.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Cerebral sinus venous thrombosis (CSVT) is a relatively rare, potentially fatal neurological condition that can be frequently overlooked due to the vague nature of its clinical and radiological ...presentation. A literature search on PubMed using the keyword "Cerebral sinus venous thrombosis" was performed. We searched for the epidemiology, risk factors, pathophysiology, clinical features, diagnosis, and treatment of CSVT. All full-text articles in the last 10 years, in adults (>18 years), and the English language were included. We aim to give a comprehensive review of CSVT, with a primary focus on the management of the disease.
The literature search revealed 404 articles that met our criteria. CSVT is a relatively rare condition that accounts for approximately 1% of all forms of stroke. They can be subdivided into acute, subacute, and chronic forms based on the time of onset of clinical symptoms. It is a multifactorial disease, and the major forms of clinical presentation include isolated intracranial hypertension syndrome, focal neurological deficits, and cavernous sinus syndrome. MRI with magnetic resonance venogram (MRV) is considered the gold standard for diagnosis. Anticoagulation with heparin or low-molecular-weight heparin is the mainstay of treatment. Endovascular management is indicated for those cases with severe symptoms or worsening of symptoms despite anticoagulation therapy. Favorable outcomes have been reported in patients who receive early diagnosis and treatment.
CSVT is a potentially fatal neurological condition that is often under-diagnosed due to its nonspecific presentation. Timely diagnosis and treatment can reduce morbidity and mortality, remarkably improving the outcome in affected individuals.
IMPORTANCE: Prolonged seizures in super-refractory status epilepticus (SRSE) have been shown to cause neuronal death and reorganization, and visual inspection in individual case studies has ...demonstrated progressive cortical and subcortical atrophy. At present, magnetic resonance imaging (MRI) studies that evaluate brain atrophy in SRSE are lacking. OBJECTIVES: To document and quantify the development of atrophy over time in SRSE. DESIGN, SETTING, AND PARTICIPANTS: This retrospective medical record review included all patients with SRSE who were admitted to a tertiary referral campus of the Mayo Clinic Hospital with SRSE from January 1, 2001, to December 31, 2013. Patients with (1) an initial MRI scan performed within 2 weeks of SRSE onset, (2) a second MRI scan within 6 months of SRSE resolution, and (3) a minimum duration of 1 week between MRI scans were included. The ventricular brain ratio (VBR) was measured on T2-weighted fluid-attenuated inversion recovery (FLAIR) images at disease onset and during follow-up. Measurements were performed on axial FLAIR images with section thickness of less than 5 mm. The plane immediately superior to the caudate head was chosen for analysis. The hypothesis that atrophy develops during SRSE despite seizure control (electroencephalogram background suppression with anesthetic drugs) was tested. Data were analyzed from June 1 to December 31, 2015. MAIN OUTCOMES AND MEASURES: Change in VBR (ΔVBR) as a percentage of the starting measure. RESULTS: Nineteen patients met the inclusion criteria; these included 10 men (53%) and 9 women (47%) with a median age of 41 (interquartile range IQR, 25-68) years. Anesthetic agents were required for a median of 13 (IQR, 5-37) days. Initial MRI was performed a median of 2 (IQR, 1-7.5) days from the onset of SRSE, and the second MRI was performed a median of 11 (IQR, 5-15.5) days from the resolution of SRSE, with a median of 40 (IQR, 15-65) days between MRI scans. Median ΔVBR was 23.3% (IQR, 10.5%-70.3%). A significant correlation between the duration of anesthetic agent use and ΔVBR was found (Spearman r = 0.54; P = .02). CONCLUSIONS AND RELEVANCE: Atrophy developed in all patients with SRSE who underwent serial imaging, despite administration of agents for seizure control. The degree of atrophy appears to be related to the duration of SRSE.
Despite its initial association with sensory neuropathies, anti-fibroblast growth factor receptor 3 (FGFR3) antibodies have been since reported with a broad range of neuropathies and clinical ...features. The aim of the study is to report the clinical and electro diagnostic findings in a cohort of patients with sensory or sensorimotor polyneuropathy and anti-FGFR3 antibodies.
We performed a retrospective chart review to assess the clinical characteristics of patients with sensory or sensorimotor neuropathy related to FGFR3 antibodies. Descriptive statistics were reported using frequencies and percentages for categorical variables and median and interquartile range (IQR) for continuous variables.
This study included 14 patients (9 women) with a median age of 51.9 years (IQR 48-57). The most common presenting symptoms were painful paresthesia (100%), gait instability (42.9%), constitutional symptoms (42.9%), and autonomic symptoms (28.6%). Onset of symptoms was chronic (≥12 weeks) in eight patients (57.1%). Examination showed a distal loss of sensation to pin prick (100%), as well as impaired vibration sensation (78.6%) and proprioception (35.7%), in the distal extremities. We also observed mild weakness in the distal lower-extremities (42.9%). Three patients (21.4%) had trigeminal neuralgia, three patients (21.4%) had co-existing autoimmune disease, and one patient (7.1%) had a history of renal cell carcinoma. The mean titer of FGFR3 antibody was 14,285.71 (IQR 5000-16,750). All 14 patients produced normal results in the neuropathy workup. Nerve conduction study and electromyography showed sensory axonal neuropathy in four patients (28.6%), sensorimotor axonal neuropathy in seven patients (50%), and a normal result in three patients (21.4%). For those with a normal NCS/EMG, a skin biopsy showed a non-length-dependent small fiber neuropathy.
Neuropathy related to FGFR3 antibodies can potentially involve small and large fibers, sensory and motor fibers, and even the trigeminal nerve, which contributes to a highly variable clinical presentation.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Background
Limbic encephalitis is a subacute progressive disorder characterized by disturbances in memory and behavior along with seizures. Antibodies against leucine-rich glioma-inactivated 1 (LGI1) ...are associated with a subtype of encephalitis which along with the abovementioned symptoms is also characterized by severe pain and autonomic dysfunction. The classical radiological presentation of LGI1 encephalitis is that of amygdala and hippocampal enlargement unilaterally or bilaterally with a T2 hyperintensity. Extratemporal involvement is considered a rare feature.
Case description
We present the only known case in our knowledge of anti-LGI1 encephalitis in a 47-year-old male presenting as dorsal root ganglia and spinal nerve enhancement on imaging.
Discussion
Clinicians should be aware of this atypical presentation and consider anti-LGI1 encephalitis as a possible diagnosis when presented with such a neuroradiological feature.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Abstract only Introduction It is relatively well recognized that migraine headaches can present with focal neurological deficits. Current guidelines do not exclude such patients from receiving ...intravenous recombinant tissue plasminogen activator (rt‐PA). Methods We reviewed the records of migraine patients with ischemic stroke using a combination of retrospective chart review and prospective identification. The migraine was classified based on the criteria proposed by the third International Classification of Headache Disorders (ICHD‐3) into migraine with aura, and hemiplegic migraine. We ascertained rates of early neurological improvement (defined by reduction in National Institutes of Health Stroke Scale (NIHSS) score of 4 points or greater or NIHSS score of 0 at24 hours), any intracerebral hemorrhage within 24 hours, and excellent functional outcome based on modified Rankin Scale (mRS 0–1) at one month. Results A total of 25 patients (mean age ± SD; 45.3 ± 10.6 years; 15 were women) who met the criteria of migraine headaches concurrently presented with focal neurological deficits and received intravenous rt‐PA. The migraine was classified as hemiplegic migraine and migraine with aura in 22 and 3 patients, respectively. Intravenous rt‐PA was administered at a mean period of 142 minutes(range 60–255 minutes). Computed tomographic angiography was performed in 24 patients and did not reveal any large vessel arterial occlusion. Early neurological improvement was seen in 13 of 25 patients. None of the patients developed post thrombolytic intracerebral hemorrhage. Excellent functional outcome was seen in all patients. Diffusion‐weighted magnetic resonance imaging (MRI) was performed in 25 patients within 72 hours of symptom onset and demonstrated a new infarction in 1 patient. Conclusions In our analysis, intravenous rt‐PA was associated with high rates of early neurological improvement and excellent functional outcome at 1 month in patients with concurrent migraine headaches and focal neurological deficits.
Background and Purpose:
Intravenous recombinant tissue plasminogen activator (IV rt-PA) is an effective treatment of acute ischemic stroke. The safety and efficacy of IV rt-PA were extensively ...studied in adults, including both octogenarians and nonagenarians.This study provides safety outcome of exclusive nursing home (NH) residents (dependent on activities of daily living ADLs) , who received IV rt-PA. Not much literature or studies are available exclusively on the NH residents.
Aim:
To assess the safety and outcome of IV rt-PA in patients from NHs who were admitted to our university-based tertiary care hospital, using data from a prospective stroke registry.
Methods:
Our study is a retrospective review of patients living in nursing facilities, admitted to our neuroscience intensive care unit after receiving IV rt-PA, from January 2010 to June 2018. We reviewed the clinical symptoms, comorbid conditions, medications, diagnostic evaluation, complications, and functional outcomes. The functional outcome was assessed based on the modified Rankin Scale (mRS) at the time of discharge, and 1- and 3-month follow-up.
Results:
Twenty-eight NH residents (20 71.4% were female with a mean age of 80.96 +/− 12.43 years) were identified who had received IV rt-PA for symptoms of acute ischemic stroke. The median mRS on admission was 3, and all of them were dependent on ADL. Twenty-seven (96.5%) patients were treated within the window (≤3 h) for IV rt-PA. There were no IV rt-PA-related violations from both our hospital and outside hospital treatment protocols. The initial computed tomographic (CT) scan of 8 (28.5%) patients revealed evidence of infarction. CT angiogram of head and neck revealed an acute intracranial blood vessel occlusion in 13 (46.4%) patients, and asymptomatic stenosis of intracranial and extracranial blood vessels in 4 (14.2%) patients. Mechanical thrombectomy was attempted in 6 (21.4%) patients and among them, the procedure was unsuccessful in 2 (7.1%) patients due to severe stenosis. One (1/21; 16.6%) patient received an intra-arterial rt-PA, and 5 (5/6;83.3%) patients developed symptomatic intracranial hemorrhage within 24 h following the procedure. Families of 9/28 (32.1%) patients decided to withdraw care. The median mRS on 30 and 90 days follow-up was 4 (interquartile range: 3-6).
Conclusion:
In this population, mechanical thrombectomy has a high risk for hemorrhagic conversion. IV rt-PA treatment in the NH residents may not improve the outcome of ischemic stroke.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Reversible cerebral vasoconstriction syndrome (RCVS) is a rare neurological condition that typically presents with a sudden-onset thunderclap headache associated with or without focal neurological ...deficits. The diagnosis is established by the presence of reversible segmental or diffuse cerebral vasoconstriction on diagnostic cerebral angiogram. Autonomic dysreflexia is a known complication resulting from spinal cord injury. It manifests as episodes of flushing, headache, and fluctuations in blood pressure. Midodrine is an alpha-1 agonist that causes vasoconstriction and is commonly used in patients with autonomic dysreflexia. Here, we report the case of a young woman with a history of autonomic dysreflexia, who presented with a thunderclap headache and was subsequently diagnosed with reversible cerebral vasoconstriction syndrome.
Horner syndrome is a constellation of neurological findings consisting of ipsilateral ptosis, miosis, and anhidrosis. Partial Horner syndrome, comprising ipsilateral ptosis and miosis in the absence ...of anhidrosis, is a well-documented but uncommon manifestation of internal carotid artery dissection. We report the case of a 42-year-old male patient who presented with ipsilateral ptosis and miosis and was subsequently diagnosed with internal carotid artery dissection. In this case report, we discuss the anatomy of the oculosympathetic pathway and the pharmacological diagnosis for a better understanding of the localization of the lesions causing Horner syndrome.
Introduction
Purpose of this study was to evaluate the clinical profile of the patients with cerebral venous thrombosis and to assess the risk factors involved.
Methods
This study was a retrospective ...study performed at Sri Ramachandra Medical Centre, Porur, Chennai and a total of 25 patients were reviewed. Clinical features, mode of onset, predisposing factors and CT/MRI findings were noted. All patients who were diagnosed to be having cerebral venous thrombosis were included in this study.
Results
Mean age was 35.7 years (range, 15 to 70 years) with a male to female ratio of 13:12. Headache (84%) and convulsions (47%) were the most common clinical features. 44% of the patients had altered sensorium and 9.1% were comatose at the time of presentation. Focal neurological deficits were observed in 60% of the patients and hemiparesis was the common deficit, seen in 28% of the cases. Subacute presentation (52%) was the most common mode of onset followed by acute presentation (40%). Predisposing factors were identified in 72% of patients. Infection was identified as a risk factor in 28% cases. CT scans showed hemorrhagic infarcts in 32% of the patients. Superior sagittal sinus was the most frequent sinus involved, 68% had partial or complete occlusion of the superior sagittal sinus. There was no mortality in the present series.
Conclusion
This study reports that cerebral venous thrombosis in developing countries particularly in rural area are no different from developed countries and needs to follow similar prevention and management.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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