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A young woman presented to neurology with a 1 month history of progressive diplopia on lateral gaze and a 1 week history of headaches. On examination she was found to have complex ophthalmoparesis with binocular horizontal diplopia, failure of abduction bilaterally and limited upgaze with convergence-retraction nystagmus. The rest of the neurological examination was normal. She was admitted for investigations: blood, CT brain, MR brain and lumbar puncture results were normal. Anti-GD1a antibodies were strongly positive; anti-GM1, anti-GM2 and anti-GD1b were also positive. On follow-up 3 weeks later, the complex ophthalmoplegia persisted. It was decided to treat with intravenous immunoglobulins (IVIgs) with good response but recurrence at 2 weeks post infusion. She was treated with 4 weekly IVIg courses and remains responsive and controlled over 1 year since presentation but becomes symptomatic in the week running up to each dose; thus, disease modifying treatment is currently being considered.

Objective The aim of this paper is to describe a low-cost and readily accessed Manual Aspiration Reduction System (MARS) for use treating ping-pong fractures in three patients. Methods The MARS is composed of a pediatric anesthesia mask, part of a macro dripper, a 3-way stopcock, and two 60-ml syringes. Prior to its use in our patient, the system was tested on five adult volunteers to maximum negative pressure, and none reported pain during the procedure or experienced any other complication. We present three clinical cases of patients with depressed ping-pong fracture who were treated with the MARS at the bedside without anesthesia. The patients were monitored by the neonatology team throughout the procedure. Results Skull radiography revealed reduction of the fracture after the procedure performed with the MARS in all patients. The transfontanellar ultrasound and follow-up neurological examination were normal. The patient progressed favorably and was discharged from our service after 24 h. Conclusions Due to its components, the MARS is a low-cost and readily accessed system. In this case, it permitted satisfactory reduction of a ping-pong fracture in all patients. This system should greatly simplify the treatment of such fractures.

A 52-year-old male patient with polyarthritis nodosa (PAN) was referred to our neurology outpatient clinic. His main symptom was paroxysmal alternating bilateral blindness. Subsequently, he developed retro-orbital pain. Neurological examination including funduscopy was normal and laboratory tests showed no relevant abnormalities. MRI orbits showed remarkable perineural thickening and contrast enhancement of the optic nerve sheaths with sparing of the central optic nerve. These findings are pathognomonic for the clinical-radiological diagnosis of optic perineuritis (OPN). The patient was treated with high-dose immunosuppressants and had a good clinical outcome. Rapid diagnosis of OPN is important because early treatment is associated with a better outcome.

A 71-year-old woman presented to the emergency room with dysphonia, diplopia, dysphagia and generalised weakness since that day. Neurological examination revealed eye adduction limitation, ptosis, hypoactive reflexes and gait ataxia. Blood and cerebrospinal fluid analysis and brain CT were normal. Electromyography revealed a sensory axonal polyneuropathy. She was diagnosed with Miller-Fisher syndrome (MFS) and started on intravenous immunoglobulin. Two days after intravenous immunoglobulin treatment was completed, she developed a sustained hypertensive profile and presented a generalised tonic-clonic seizure. Brain MRI was suggestive of posterior reversible encephalopathy syndrome (PRES) and supportive treatment was implemented with progressive improvement. PRES may be a possible complication of MFS not only due to autonomic and inflammatory dysfunctions, but also as a consequence of its treatment. Patients with MFS should be maintained under close surveillance, especially in the first days and preferably in intermediate care units.

A 76-year-old man was admitted to the hospital with acute onset of involuntary movements of the left side of his body. His neurological examination revealed he was oriented only to himself, and aforementioned movements of his left arm and leg. CT head demonstrated old infarcts in his right aspect of his pons and basal ganglia. Cerebrospinal fluid analysis was unremarkable. He initially had a normal blood glucose with an elevated anion gap and elevated creatine kinase. Brain MRI showed a small lacunar-type ischaemic infarct within the anteromedial aspect of the right cerebral peduncle, which localised to his haemiballism. To prevent worsening rhabdomyolysis associated with his haemiballism, the primary team initiated both tetrabenazine and diazepam. His movements improved after 1 week of medication therapy. This report discusses a thorough workup for this movement disorder and when to intervene for this distressing condition.

CSF hypotension arises in the context of a leak of CSF which causes negative intracranial pressure. Sacral fractures result from high-energy trauma which are frequently underdiagnosed. A ten-year-old boy presented with hip pain, after a fall. He mobilized both lower limbs, reported no leg pain, irradiation nor lack of sphincter control. The neurological examination was normal. When asked to stand, he began biparietal headache, nausea and vomiting, which improved laying down. CT scan showed an occult intrasacral meningocele; the MRI revealed collections of CSF along the spine, a S3 fracture with potential laceration of the meningocele and opening of a CSF fistula. Our diagnosis was the CSF hypotension, secondary to the fistula opening. The diagnosis was challenging. The child first presented with symptoms of CSF hypotension without evident cause. The discovery of the meningocele led us to hypothesize the opening of a fistula, a rare diagnosis, later confirmed by MRI. info:eu-repo/semantics/publishedVersion

A 13-year-old male asthmatic presented to the general paediatric clinic with papilloedema identified following a check-up with his optician due to blurred vision. His asthma was well controlled on a moderate dose of inhaled corticosteroid and there had been no recent increase or decrease in the dose. A diagnosis of benign intracranial hypertension (BIH) was made based on a raised cerebrospinal fluid opening pressure, papilloedema, a normal neurological examination and normal neuroimaging. The only associated risk factor was his inhaled corticosteroids. He was commenced on acetazolamide and the inhaled corticosteroid dose was reduced, resulting in resolution of his papilloedema. This case serves to highlight that steroid side effects including BIH may occur at moderate doses of inhaled corticosteroids and that inhaled corticosteroid dose should be regularly reviewed and decreased to the lowest dose that maintains asthma control.

Context: Objective and expedient assessments of standing postural control incorporating static and dynamic tasks are necessary for identifying subtle motor deficits and clearing children to return to high-risk activities after concussion. The Revised Physical and Neurological Examination for Subtle Signs (PANESS) gaits and stations tasks evaluate both static and dynamic aspects of postural control. While the PANESS gaits and stations subscale is sensitive to concussion in youth, the benefit of each specific task for this purpose is unknown. Purpose: This study evaluated whether specific PANESS tasks identify postural impairments after youth concussion. Design: Cross-sectional study. Setting: Academicallyaffiliated research laboratory. Participants: Sixty youth, ages 10–17 years, comprised 3 groups: (1) youth symptomatic from concussion (4–14 d postinjury [n = 18]), (2) clinically-recovered youth (27–122 d postinjury [n = 15]), and (3) age- and gender-matched never-concussed controls (n = 27). Main Outcome Measure: PANESS gaits and stations tasks (6 dynamic and 3 static) at the time of the initial research visit. Results: Kruskal–Wallis statistic identified a significant main effect of group on standing on one foot (a 30-s task). Both symptomatic and clinically-recovered youth showed deficits on standing on one foot relative to controls. Conclusions: Single-leg tasks of longer duration may maximize the ability to detect residual postural deficits after concussion and can be readily incorporated in targeted sport rehabilitation protocols.

INTRODUCTION: Teleneurology has become widely adopted during severe acute respiratory syndrome coronavirus 2 pandemic. However, provider impressions about the teleneurology experience are not well described. METHODS: A novel questionnaire was developed to collect provider impressions about video teleneurology encounters. All providers in the University of Pennsylvania Health System (UPHS) Neurology Department (N = 162) were asked to complete a questionnaire after each video teleneurology patient encounter between April and August 2020. Individual patient and encounter-level data were extracted from the electronic medical record. RESULTS: One thousand six hundred three surveys were completed by 55 providers (response rate of 10.12%). The history obtained and the ability to connect with the patient were considered the same or better than an in-person visit in almost all encounters. The quality of the physician–patient relationship was good or excellent in 93%, while the overall experience was the same as an in-person visit in 73% of visits and better in 12%. Sixty-eight percent of respondents reported that none of the elements of the neurological examination if performed in person would have changed the assessment and plan. Assessment of the visit as the same or better increased from 83% in April to 89% in July and 95% in August. Headache (91%), multiple sclerosis and neuroimmunology (96%), and movement disorder (89%) providers had the highest proportion of ratings of same or better overall experience and neuromuscular providers the lowest (60%). CONCLUSIONS: Provider impressions about the teleneurology history, examination, and provider–patient relationship are favorable in the majority of responses. Important differences emerge between provider specialty and visit characteristics groups.

Staphylococcus schleiferi has rarely been reported to cause pyogenic spondylitis. A 42-year-old man had been treated for Crohn's disease with immunosuppressive agents and home parenteral nutrition via a central vein (CV) port. The patient was admitted to our hospital, presenting with neck pain and a fever. A neurological examination showed slight weakness in his left-hand muscles, and he was diagnosed with pyogenic spondylitis of C6 and C7 vertebral bodies due to catheter-related blood stream infection caused by S. schleiferi. An early diagnosis by magnetic resonance imaging, CV port removal and antibiotic therapy targeting S. schleiferi improved his symptoms.

Неврологічне обстеження хворих із гострим інсультом є обов’язковим компонентом діагностики інсульту. Для ґрунтовного з’ясування впливу ізоосмолярного розчину 0,9% NaCl та гіперосмолярного розчину маніту на перебіг гострого порушення мозкового кровообігу за ішемічним типом становило інтерес дослідження впливу курсової терапії цими розчинами на перебіг неврологічного дефіциту за допомогою різних неврологічних шкал. Досліджувані розчини вводили в умовно ефективній дозі (визначеній в експерименті) одразу при підтвердженні діагнозу і далі щодоби кожні 12 год впродовж 7 діб. Контроль результатів терапії в дослідженні проводився щодня за допомогою шкали коми Глазго, шкали FOUR та NIHSS. Застосування 0,9% NаСl та маніту не мало вірогідного впливу на динаміку неврологічного дефіциту за показниками шкал коми Глазго, FOUR та NIHSS упродовж 7 діб спостереження (р > 0,05). Міжгруповий аналіз неврологічного дефіциту показав вірогідно гірший результат у групі маніту порівняно з 0,9% NaCl за показниками шкали FOUR (р = 0,02).

Проведено відкрите клінічне дослідження з вивчення ефективності та переносимості лікарського засобу Налгезин форте виробництва компанії KRKА у пацієнтів із вертеброгенними больовими синдромами. Препарат Налгезин форте входить до групи нестероїдних протизапальних препаратів, які завдяки інгібуванню ферменту простагландинсинтетази пригнічують біосинтез простагландинів. Мета дослідження: оцінити ефективність і переносимість препарату Налгезин форте, таблетки, виробництва компанії KRKA у пацієнтів із вертеброгенними больовими синдромами. Об’єкт дослідження: 30 пацієнтів обох статей віком від 20 до 60 років із вертеброгенними больовими синдромами. У дослідженні взяли участь пацієнти з хронічною люмбалгією/люмбоішіалгією вертеброгенной етіології, дорсалгіями, що супроводжуються помірним больовим синдромом. Тривалість захворювання становила від 1 місяця до 5 років, 24 хворі (80 %) мали анамнез больового синдрому понад 3 роки. Методи дослідження: загальноклінічні (клініко-неврологічне з використанням шкал для оцінки болю), інструментальні (рентгенографія, магнітно-резонансна томографія), біохімічні, клініко-лабораторні. Результати проведеного дослідження дозволили зробити висновок, що препарат Налгезин форте поряд з великою швидкістю настання знеболюючого ефекту здійснює виражий терапевтичний вплив на вертеброгенні больові синдроми, призводить до поліпшення фізичного благополуччя, підвищення працездатності, загального сприйняття якості життя пацієнтів, а також добре переноситься, зокрема має високий кардіоваскулярний профіль безпеки.

Мета дослідження — вивчити особливості психоемоційних розладів у групах пацієнтів із хронічними больовими синдромами попереково-крижової локалізації згідно з Класифікацією захворювань хребта Квебекської спеціальної комісії (КЗХКСК). Матеріали і методи. Обстежені 103 пацієнти з хронічним вертеброгенним попереково-крижовим больовим синдромом (ХВПКБС) та 30 практично здорових осіб. За результатами клініко-неврологічного обстеження всі пацієнти були розподілені на групи, які відповідали першим чотирьом групам КЗХКСК. З метою дослідження психоемоційних розладів проводилося обстеження з використанням тесту Спілбергера в модифікації Ханіна та опитувальника Бека. Результати. У групі пацієнтів із ХВПКБС спостерігалися більш високі рівні реактивної та особистісної тривожності, депресії порівняно з контрольною групою. Так, середній бал реактивної тривожності становив 51 (47; 58), особистісної тривожності — 44 (41; 50), депресії — 4 (3; 7) бали. При розподілі пацієнтів на групи відповідно до КЗХКСК найвищі значення реактивної (56 (49,5; 61,5)) та особистісної (47 (41,5; 51,5)) тривожності, а також депресії (6 (4; 9)) спостерігались в групі IV. Рівні особистісної тривожності та депресії вірогідно (P

Background. Genetic polyneuropathies belong to systemic degenerative diseases of the nervous and muscular systems of genetic nature, which quite often lead to disorders of the musculoskeletal system. The purpose of our study was to evaluate the neurological condition of persons with genetic polyneuropathies at the stage of preoperative preparation. Materials and methods. 87 patients of the decreed group aged 12 to 57 years were examined. The control group consisted of 10 patients with traumatic injury of soft tissues and peripheral nerves of lower extremities and 10 patients with longitudinal flatfoot of young and middle age. All patients were subject to detailed orthopedic and neurological examination. Results. In all patients with genetic polyneuropathies, we have detected even, on both sides, reduction of tendon and periosteous reflexes in the lower extremities, which correlated with duration of the disease and the nature of genetic malformations. There was recorded a reduction of pain attenuation by the distal type: in the mild lesion — at the level of toes, in the moderate form — these violations have spread to the level of the tibia, and in the severe forms they reached the middle third of the tibia or the level of the knee joints. In mild genetic polyneuropathy, vibration sensitivity in feet was decreased up to 12–14 seconds (in patients in the control group it was about 15–16 seconds or more), in the moderate level of the process — up to 7–11 seconds, in severe forms — up to 0–4 seconds. Motor function disorders in polyneuropathic foot were reduced to the symmetric decrease of muscle strength in the distal limbs, and 12 patients with the severe form of Charcot-Marie-Tooth had paresis of the feet, 2 patients had the symptoms of proximal amyotrophy of the leg muscles. The vast majority of patients had significant vegetative trophic disorders of the segmental level, mainly in the distal segments of legs. In particular, changes occurred in the skin. In the distal segments of legs in 48 patients, it was dry, desquamated, with numerous fissures, hyperkeratosis, roughness, calluses (especially in soles). Swelling on the dorsum of the foot was diagnosed in the lower third of the tibia as well. The vascular pattern was abnormal in 36 patients by parasympathicotonic type, and in 19 patients — by sympathicotonic. Nails were atrophic, with their color changed. Trophic changes were also observed in soft tissues located deeper. Conclusions. Genetic neuropathies are accompanied with severe orthopedic disorders, predominantly in the skeletal structures of the foot. Pathognomonic characteristics for the choice of surgical treatment in patients with genetic polyneuropathies are the nature of autonomic trophic disorders and the degree of changes in the complex types of sensitivity in feet, in particular, vibration sensitivity.

Objective : Chronic subdural hematoma (CSDH) is one of the most common pathology in daily neurosurgical practice and incidence increases with age. The aim of this study was to evaluate the prognostic factors and surgical outcome of CSDH in patients aging over 90 years compared with a control group of patients aging under 90 years.Methods : This study reviewed 25 patients with CSDH aged over 90 years of age treated in our department. This group was compared with a younger group of 25 patients aged below their eighties. At admission past medical history was recorded concerning comorbidities (hypertension, dementia, ictus cerebri, diabetes, and heart failure or attack). History of alcohol abuse, anticoagulant and antiplatelet therapy, head trauma and seizures were analyzed. Standard neurological examination and Markwalder score at admission, 48 hours after surgery and 1–6 months follow-up, radiologic data including location and CSDH maximum thickness were also evaluated.Results : Their mean age was 92.8 years and the median was 92.4 years (range, 90–100 years). In older group, the Markwalder evaluation at one month documented the complete recovery of 24 patients out of 25 without statistical difference with the younger group. This data was confirmed at 6-month follow-up. One patient died from cardiovascular failure 20 days after surgery. The presence of comorbidities, risk factors (antiplatelet therapy, anticoagulant therapy, history of alcohol abuse, and head trauma), preoperative symptoms, mono or bilateral CSDH, maximum thickness of hematoma, surgical time and recurrence were similar and statistically not significant in both groups.Conclusion : In this study, we demonstrate that surgery for very old patients above 90 years of age affected by CSDH is safe and allows complete recovery. Comparing two groups of patients above and under 90 years old we found that complication rate and recovery were similar in both groups.

Introduction Fibrous dysplasia (FD) is a rare genetic disease characterized by development of dysplastic bone tissue leading to pain, deformities and compressive complications. Spinal involvement is rare particularly for the polyostotic form. Case report Herein, we present a case of 52-year-old man presented with isolated low back pain who received non-steroidal anti-inflammatory drugs (NSAIDs) with partial pain relief. On examination, the thoracic and lumbar spines were tender. Lumbar spine movements, attested by Shober’s test and finger-to-floor test, were limited. There was no radicular pain and neurological examination was normal. The erythrocyte sedimentation rate was 20 mm/1st hour, C- reactive protein 2 mg/l and white blood cell count, serum calcium, phosphorus, alkaline phosphatase and parathormone were normal. Plain x-ray lumbar and thoracic spine and hips were normal. X-ray cervical spine and peripheral bone showed no lesions. Computed tomography (CT) and magnetic resonance imaging showed multiple osteolytic lesions with ground-glass opacity and sclerotic rims of thoracic and lumbar (L1 and L2) spine. Investigations to rule out malignancy or infections were negative. CT guided biopsy of a lumbar vertebra was performed and showed the presence of abnormal fibrous matrix surrounding an irregular shaped immature bone. The diagnosis of polyostotic FD of the spine was made. Zoledronic acid infusion was introduced and the patient felt better thereafter with no additional osteolytic lesions or new pain localization reported for 2 years on follow up. Conclusion Thoracic and lumbar spine FD is a rare localization that should be considered in the differential diagnosis of back pain.

Neurological examination in the acute phase after spinal cord injury (SCI) is often impossible and severely confounded by pharmacological sedation, or concomitant injuries. Therefore, diagnostic biomarkers that objectively characterize severity, or the presence of SCI are urgently needed to facilitate clinical decision-making. This study aimed to determine if serum markers of neural origin are related to i) presence and severity of SCI, and ii) magnetic resonance imaging (MRI) parameters in the very acute post-injury phase. We performed a secondary analysis of serological parameters, as well as MRI findings in patients with acute SCI (n=38). Blood samples were collected between days 1-4 post-injury. Serum protein levels of Glial Fibrillary Acidic Protein (GFAP), Neuron-Specific Enolase (NSE), and Neurofilament light protein (NfL) were determined. A group of 41 age- and sex-matched healthy individuals served as control group. In the group of individuals with SCI, pre-operative sagittal and axial T2-weighted and sagittal T1-weighted MRI scans were available for 21 patients. Serum markers of neural origin are different among individuals who sustained traumatic SCI depending on injury severity, and the extent of the lesion according to MRI in the acute injury phase. URP-CTREE produced preliminary cut-off values for NfL (75.217 pg/ml) and GFAP (73.121 pg/ml) allowing a differentiation between individuals with SCI and healthy controls within the first four days after SCI. Serum proteins NfL and GFAP qualify as diagnostic biomarkers for the presence and severity of SCI in the acute post-injury phase, where the reliability of clinical exams is limited.

Objectives We sought to understand the knowledge, attitudes, and beliefs of emergency medicine (EM) physicians towards non-specific neurological conditions and the use of clinical decision support (CDS) to improve diagnostic accuracy. Methods We conducted semi-structured interviews of EM physicians at four emergency departments (EDs) affiliated with a single US healthcare system. Interviews were conducted until thematic saturation was achieved. Conventional content analysis was used to identify themes related to EM physicians’ perspectives on acute diagnostic neurology; directed content analysis was used to explore views regarding CDS. Each interview transcript was independently coded by two researchers using an iteratively refined codebook with consensus-based resolution of coding differences. Results We identified two domains regarding diagnostic safety: (1) challenges unique to neurological complaints and (2) challenges in EM more broadly. Themes relevant to neurology included: (1) knowledge gaps and uncertainty, (2) skepticism about neurology, (3) comfort with basic as opposed to detailed neurological examination, and (4) comfort with non-neurological diseases. Themes relevant to diagnostic decision making in the ED included: (1) cognitive biases, (2) ED system/environmental issues, (3) patient barriers, (4) comfort with diagnostic uncertainty, and (5) concerns regarding diagnostic error identification and measurement. Most participating EM physicians were enthusiastic about the potential for well-designed CDS to improve diagnostic accuracy for non-specific neurological complaints. Conclusions Physicians identified diagnostic challenges unique to neurological diseases as well as issues related more generally to diagnostic accuracy in EM. These physician-reported issues should be accounted for when designing interventions to improve ED diagnostic accuracy.

A 2‐year‐old female spayed dog was presented with a chronic history of short‐strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.

Although post-acute cognitive dysfunction and neuroimaging abnormalities have been reported after hospital discharge in patients recovered from COVID-19, little is known about persistent, long-term alterations in patients who did not require hospitalization. Therefore, we conducted a cross-sectional study of 87 consecutive, non-hospitalized recovered individuals, with a median of 54 days after the laboratory confirmation of COVID-19. We performed structured interviews, neurological examination, and 3T-MRI scans. The MRI study included white matter investigation with diffusion tensor images (DTI) and seed-based resting-state functional MRI (fMRI) connectivity analyses of the default mode network (DMN). In addition, we used validated instruments to examine fatigue, symptoms of anxiety and depression, somnolence, language, memory, and cognitive flexibility.Individuals self-reported a high frequency of headaches (40%) and memory difficulties (33%). The quantitative analyses confirmed symptoms of fatigue (68% of participants), excessive somnolence (35%), symptoms of anxiety (29%), impaired cognitive flexibility (40%) and language dysfunction (33%). In addition, we observed a correlation between DTI fractional anisotropy (FA) and abnormal attention and cognitive flexibility measured by the Trail Making Test part B. The resting-state fMRI study of the DMN showed an association between higher connectivity of the posterior cingulate cortex (PCC) and higher levels of fatigue and somnolence. While greater connectivity of the PCC with bilateral angular gyri was associated with higher fatigue levels, the elevated levels of somnolence correlated with higher connectivity between the PCC and both the left thalamus and putamen.

To evaluate the prevalence of epilepsy and electroencephalographic abnormalities in children with autism spectrum disorders (ASD) and determine their risk factors. This cross-sectional study was conducted over one year in children with ASD aged between 3 and 14 y. Classification of epilepsy and routine electroencephalography (EEG) recordings were done for all the patients. Developmental and cognitive assessments were done using Developmental Profile 3. Children were divided into three groups: ASD with epilepsy, ASD with isolated electroencephalographic abnormalities, and ASD with neither epilepsy nor electroencephalographic abnormalities. One hundred children with ASD were enrolled. Epilepsy was reported in 23% and subclinical electroencephalographic abnormalities were documented in 8%. The most common seizure types were generalized-onset tonic–clonic (48%), focal-onset with impaired awareness (17%), and focal to bilateral tonic–clonic seizures (17%). In children with subclinical epileptiform discharges, focal abnormalities were most common (75%) and were maximally seen over the temporal region (50%). Subnormal intellect (88.6%) and abnormal global developmental score (82%) were noted in the majority of children. Female gender, abnormal neurological examination, and adverse perinatal events were significantly associated with epilepsy. Of these, female gender and adverse perinatal events were independent predictors of epilepsy. Isolated EEG abnormalities were significantly associated with abnormal neurological examination in comparison with autistic children without epilepsy/EEG abnormalities. Epilepsy is seen in up to one-fourth children with ASD. Female gender and adverse perinatal events are independent risk factors for epilepsy. Subclinical or isolated EEG abnormalities are associated with abnormal neurological examination.

Mutations in presenilin 1 (PSEN1) are the most common known genetic cause of early-onset Alzheimer’s disease. Patients with PSEN1 mutations exhibit broad phenotypes. Here, we report clinical, neuroimaging and genetic findings in a patient with a de novo mutation in PSEN1 (c.697A > G, p.M233V) presenting with early-onset parkinsonism as the initial and primary symptom. We recruited a family with one affected patient with early-onset parkinsonism. The patient underwent comprehensive neurological examination and imaging evaluation. Whole genome sequencing was performed for the proband. The patient presented with parkinsonism and mild cognitive impairment. He had a good response to levodopa. Brain MRI evaluation showed atrophy of the bilateral frontotemporal lobe and hippocampus. 18F-fluorodeoxyglucose-positron emission tomography (PET) and 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane-PET showed decreased metabolism and dopamine transporter distribution in the bilateral putamen and caudate nucleus. 11C-Pittsburgh compound B -PET showed β-amyloid protein deposition. Genetic analysis identified a heterozygous de novo variant in PSEN1 (c.697A > G, p.M233V). Screening for PSEN1 variations should be considered in patients with levodopa-responsive early-onset parkinsonism.

There is a very high prevalence of headache in both outpatient and inpatient settings, in the United States and worldwide, due to an abundance of possible causes. Having a practical and systematic approach to evaluating and treating headache is, therefore, key to making the correct diagnosis, or possibly overlapping diagnoses. Taking a thorough and methodical headache history is the mainstay for diagnosis of both primary and secondary headache disorders. Evaluation and workup should include a complete neurological examination, consideration of neuroimaging in specific limited situations, and serum or spinal fluid analysis if indicated. Adopting a diagnostic approach to headache ensures that cannot-miss, or potentially fatal, headache syndromes are not overlooked, while resource-intensive tests are performed only on an as-needed basis.

A 56-year-old man presented with rapidly evolving/sub-acute upper and lower motor neuron syndrome in 2015 with significant weakness in the four limbs and the bulbar region. Amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-r) was rated 34/48. On electromyography, there was a diffuse and active denervation in the four limbs and the tongue. A diagnosis of definite ALS according to international criteria was made. Six months later the patient stopped worsening. In the following years he progressively recovered. ALSFRS-r score improved to reach 48/48 in 2021. His neurological examination is normal and electromyography shows no denervation. Inquiry revealed that he presented a few months and, again a few days before onset, a mushroom poisoning. He was used to eating false morels either crude or undercooked and developed muscles cramps, nausea and vertigo. The relationships between this reversible sub-acute motor neuron syndrome and mushroom intoxication are discussed in the light of the recently described cluster in the Alps with a high incidence of ALS cases. Epidemiological investigations showed that all patients, but not their spouses, used to eat crude or undercooked false morels. Such a mushroom contains hydrazines, a known neurotoxic agent. We are not aware of another case of ALS reversal in that cluster area. We propose that a potential mushroom poisoning be thoroughly searched for when facing with a patient with sub-acute or rapidly worsening ALS syndrome.

Stroke is one of the most common neurological emergencies and requires rapid detection and treatment (time is brain). There is still insufficient knowledge about stroke warning signs. It is therefore of crucial importance that trained personnel in the preclinical setting recognize the relevant warning symptoms and collect the necessary information to quickly refer the patient to the appropriate additional care structure. For this purpose, training of the emergency medical services (EMS) and the correct triage are of particular importance. The on-site assessment of a patient with a suspected stroke by EMS should include airway, breathing, vital functions, a basic neurological examination, blood glucose testing and cardiac monitoring.Patients with suspected acute ischemic stroke should be brought to the nearest hospital with a stroke unit, ideally connected with a tertiary stroke centre. From there, once the primary diagnosis has been carried out and appropriate therapy initiated, the patient can be transferred to a thrombectomy center if necessary. To improve supply times, teleradiological networking plays a major role both between clinics of different levels of care and in communication between pre- and intra-hospital care providers. Also, the use of mobile stroke units can improve preclinical stroke care and reduce delays in access to intravenous thrombolytic therapy and mechanical thrombectomy. The identification of preclinical biomarkers could also save time.

Neuropsychiatric manifestations (NP) are common in systemic lupus erythematosus (SLE). However, the pathophysiological mechanisms are not completely understood. Neurofilament light protein (NfL) is part of the neuronal cytoskeleton. Increased NfL concentrations, reflecting neurodegeneration, is observed in cerebrospinal fluid (CSF) in several neurodegenerative and neuroinflammatory conditions. We aimed to explore if plasma NfL could serve as a biomarker for central nervous system (CNS) involvement in SLE. Sixty-seven patients with SLE underwent neurological examination; 52 underwent lumbar puncture, while 62 underwent cerebral magnetic resonance imaging (MRI). We measured selected auto-antibodies and other laboratory variables postulated to have roles in NP pathophysiology in the blood and/or CSF. We used SPM12 software for MRI voxel-based morphometry. Age-adjusted linear regression analyses revealed increased plasma NfL concentrations with increasing creatinine (β = 0.01, p

Forty one soldiers were examined in the acute period of the concussion of the brain, among which 22 were injured due to shock wave. All injured underwent neurological examination with the study of recommended pathological reflexes (from face, hands and feet). Pyramidal, cerebellar signs, symptoms of meningism were revealed in neurological status. The conducted research showed that in the acute period of brain concussion resulting from shock wave, a significant number of neurological symptoms were detected, namely pathological axial and symmetrical carpal and foot reflexes. The defined group of pathological reflexes is an indispensable feature of the concussion of the brain due to air blast. Clinical evaluation of neurological status emphasizes the importance of this affordable and simple method. Timely identification and recognition of pathological symptomatology may have an extremely valuable clinical significance. Therefore, injured persons with brain concussion require specialized in-patient treatment (level III–IV medical care) to provide them with neurovisual methods of investigation, dosage regimen of work and rest, medical supervision, modern medical and physiotherapeutic treatment, prophylaxis, including psychotherapeutic one, in order to prevent the development of post-traumatic stress and diencephalic disorders, epileptic seizures, the development of traumatic brain disease.

Актуальность. Головная боль напряжения (ГБН) — наиболее распространенный в популяции тип головной боли (ГБ). Некоторые исследования показали, что мышечное напряжение значительно возрастает с увеличением частоты ГБН, болезненность мышц может расти во время приступов ГБ. Высказано предположение, что непрерывный ноцицептивный вклад периферических миофасциальных структур может вызвать центральную сенсибилизации и, возможно, хронизацию ГБ. Целью исследования было изучение особенностей болевого синдрома у пациентов с эпизодической и хронической головной болью напряжения. Материалы и методы. Было обследовано 108 пациентов (55 мужчин, 53 женщины) с диагнозами «частая эпизодическая головная боль напряжения» (ЭГБН) (группа I, n = 64) и «хроническая головная боль напряжения» (ХГБН) (группа II, n = 44). Проводилось клинико­неврологическое обследование, пальпация перикраниальных и шейных мышц с обеих сторон с подсчетом числа болезненности перикраниальных мышц (ЧБПМ) и числа болезненности мышц шеи (ЧБМШ) для каждого пациента и их среднее значение в группе. Для оценки субъективной выраженности боли использовался метод визуальной аналоговой шкалы (ВАШ), для качественной характеристики боли — болевой опросник Мак­Гилла. Результаты. Пациенты обследованных групп по интенсивности ГБ по ВАШ существенно не отличались, показатель был в пределах умеренного с тенденцией к более выраженному в группе II. В обеих группах при пальпации перикраниальных и шейных мышц с обеих сторон болезненность при пальпации в основном была в пределах от слабой до умеренной, кроме трапециевидной и ременной мышц головы, где болезненность носила характер от умеренной до выраженной. В группе I по сравнению с группой II выявлено достоверное превышение показателя ЧБПМ и ЧБМШ слева, ЧБПМ справа и не отмечено различий между ЧБМШ групп I и II справа. У пациентов с ЭГБН выраженность мышечной болезненности снижалась с возрастом, были выше показатели, описывающие сенсорные и психоэмоциональные характеристики боли, выявлена положительная корреляционная связь между болезненностью перикраниальных мышц и интенсивностью и частотой ГБ в месяц. У пациентов с ХГБН обнаружены корреляционные связи между интенсивностью, средней продолжительностью ГБ в месяц и сенсорными и психоэмоциональными характеристиками боли, что может свидетельствовать о вовлечении центральных и периферических ноцицептивных механизмов в патогенез хронической ГБН. Выводы. Наличие мышечной болезненности, сенсорные и психоэмоциональные характеристики ГБ необходимо учитывать при планировании лечебных и реабилитационных стратегий, что будет препятствовать прогрессированию и хронизации ГБ и способствовать повышению качества жизни пациентов.

Background. Infantile cerebral palsy is a collective term that combines numerous severe diseases of the nervous system. Eighty percent of children with cerebral palsy suffer from spastic forms, the main symptom of which is an increase in muscle tone — spasticity. Objectification of the state of muscle tone and control over the dynamics of spasticity can be carried out using methods of biomechanics and electroneuromyographic (ENMG) research, which makes it possible to qualitatively and quantitatively study the state of the neuromuscular system. The purpose is to establish the clinical and neurophysiological features of spastic syndrome in children with infantile cerebral palsy, depending on the severity of motor disorders. Materials and methods. We examined 122 children with cerebral palsy (average age 8.8 ± 3.7 years), who were divided into groups according to the values of the Gross Motor Function Classification (GMFCS E&R). All patients underwent a thorough neurological examination and ENMG studies. To assess the suprasegmental (upper motor neuron) and segmental (α-motor neurons of the spinal cord and peripheral nerves) levels of damage, the parameters of the H-reflex and F-wave were analyzed. Results. The majority of the examined children were diagnosed with spastic forms of cerebral palsy: 40 (32.8 %) children — spastic diplegia, 25 (20.5 %) — hemiparetic form, 6 (4.9 %) — spastic triparesis, 34 (27.9 %) — spastic tetraparesis. Children with cerebral palsy with severe motor disorders were significantly more likely to have orthopedic pathology, namely equino-valgus installations and flat-valgus deformities of the feet. Based on ENMG parameters in patients with cerebral palsy, there were recorded suprasegmental violations, manifested in the increase of the amplitude of M-response, especially when testing the tibial nerve, the increased ratio of Hmax/Mmax, increased amplitude of H-reflex and F-wave. Conclusions. With an increase in the severity of motor disorders on the Gross Motor Function Classification Scale (GMFCS E&R) in children with cerebral palsy, neurophysiological changes significantly worsened.

OBJECTIVE Management of a patient presenting with a first seizure depends on the risk of additional seizures. In clinical practice, the recurrence risk is estimated by the treating physician using the neurological examination, brain imaging, a thorough history for risk factors, and routine scalp electroencephalogram (EEG) to detect abnormal epileptiform activity. The decision to use antiseizure medication can be challenging when objective findings are missing. There is a need for new biomarkers to better diagnose epilepsy following a first seizure. Recently, an EEG-based novel analytical method was reported to detect paroxysmal slowing in the cortical network of patients with epilepsy. The aim of our study is to test this method's sensitivity and specificity to predict epilepsy following a first seizure. METHODS We analyzed interictal EEGs of 70 patients admitted to the emergency department of a tertiary referral center after a first seizure. Clinical data from a follow-up period of at least 18 months were available. EEGs of 30 healthy controls were also analyzed and included. For each EEG, we applied an automated algorithm to detect paroxysmal slow wave events (PSWEs). RESULTS Of patients presenting with a first seizure, 40% had at least one additional recurring seizure and were diagnosed with epilepsy. Sixty percent did not report additional seizures. A significantly higher occurrence of PSWEs was detected in the first interictal EEG test of those patients who were eventually diagnosed with epilepsy. Conducting the EEG test within 72 h after the first seizure significantly increased the likelihood of detecting PSWEs and the predictive value for epilepsy up to 82%. SIGNIFICANCE The quantification of PSWEs by an automated algorithm can predict epilepsy and help the neurologist in evaluating a patient with a first seizure.

Although neuropathy remains one of the most problematic issues faced by leprosy patients, the evolving process of its findings continues a challenge particularly in pure neural leprosy (PNL). We evaluated neurological examination, nerve conduction studies and histhopathological data of patients with PNL and ulnar neuropathy. Patients with longer duration of symptoms had reduction in the motor conduction velocities and patients with fibrosis in the biopsy had axonal damage in the nerve conduction studies. This suggests that focal demyelination may be present in leprosy patients at the moment of the diagnosis and be related to the duration of the neuropathy.

Introduction To the best of our knowledge, here we present two post-COVID19 longitudinally extensive transverse myelitis (LETM) with atypical presentations CASE PRESENTATIONS: A 44-year-old male who did not have any previous medical condition and a 73-year-old male foreigner who did not have any disease other than type 2 diabetes mellitus were admitted to our neurology clinic in the same period with similar clinical presentations of transverse myelitis. Upon admission, paraplegia and urinary-fecal incontinence were observed in their neurological examination. Neurological complaints had started within approximately 3-4 weeks following the resolution of the COVID-19 infection. Thoracic lower segment LETM was observed on spinal magnetic resonance imaging (MRI) in one of the patients, and long segment myelitis extending from the lower thoracic segment to the conus medullaris was observed in the other one. No significant diagnostic positivity was present in their diagnostic evaluation. In both cases, we assume a post-infectious etiology in terms of secondary immunogenic overreaction following COVID-19. Conclusion Our patients improved with multiple treatments such as methylprednisolone, intravenous immunoglobulin, and plasmapheresis. Whether post-infectious myelitis behaves differently from other viral infections after COVID-19 is currently unclear. Long lag times appear to be a post-infectious neurological complication resulting from the host response to the virus.

ObjectiveTo test the hypothesis that cerebral blood flow (CBF) assessed with arterial spin labelling (ASL) MRI is increased and standardised neurological examination is altered in infants with neonatal opioid withdrawal syndrome (NOWS) compared with those without.DesignProspective cohort study.SettingLevel IV neonatal intensive care unit and outpatient primary care centre.ParticipantsInfants with NOWS receiving pharmacological treatment and unexposed controls matched for gestational age at birth and post-menstrual age at MRI.Main outcomesCBF assessed by ASL on non-sedated 3-Tesla MRI and standardised Hammersmith Neonatal Neurological Examination (HNNE) within 14 days of birth.ResultsThirty infants with NOWS and 31 control infants were enrolled and included in the final analysis. Global CBF across the brain was higher in the NOWS group compared with controls (14.2 mL/100 g/min±5.5 vs 10.7 mL/100 g/min±4.3, mean±SD, Cohen’s d=0.72). HNNE total optimality score was lower in the NOWS group compared with controls (25.9±3.6 vs 28.4±2.4, mean±SD, Cohen’s d=0.81). A penalised logistic regression model including both CBF and HNNE items discriminated best between the two groups.ConclusionsIncreased cerebral perfusion and neurological examination abnormalities characterise infants with NOWS compared with those without intrauterine drug exposure and suggest prenatal substance exposure affects fetal brain development. Identifying neurological and neuroimaging characteristics of infants with NOWS can contribute to understanding mechanisms underlying later outcomes and to designing potential new treatments.

Objective: To compare neurological functioning of neonates born to mothers with and without malaria in pregnancy. Methods: Pregnant women presenting at Korle Bu Teaching Hospital, Ghana were recruited into this prospective observational study. Malaria exposure was determined by clinically documented antenatal malaria infection; parasitemia in maternal, placental, or umbilical cord blood; or placental histology. Neurological functioning was assessed using the Hammersmith Neonatal Neurological Examination within 48 hours of birth. Performance was classified as ''optimal'' or ''suboptimal'' by subdomain and overall. Results: Between November 21, 2018 and February 10, 2019, a total of 211 term-born neonates, of whom 27 (13%) were exposed to malaria in pregnancy, were included. In the reflexes subdomain, exposed neonates tended to score lower (adjusted mean difference -0.34, 95% confidence interval -0.70 to 0.03), with an increased risk (adjusted risk ratio 1.63, 95% confidence interval 1.09 to 2.44) of suboptimal performance compared with unexposed neonates. There were no significant between-group differences in scores or optimality classification for the remaining subdomains and overall. Conclusions: Malaria-exposed neonates had similar neurological functioning relative to unexposed neonates, with differences confined to the reflexes subdomain, suggesting potential underlying neurological immaturity or injury. Further studies are needed to confirm these findings and determine the significance of malaria in pregnancy on long-term neurological outcomes.

Background Osmotic demyelination syndrome commonly occurs after rapid correction of hyponatremia. But it has also been reported after graded correction of hyponatremia in the presence of other risk factors like chronic alcoholism, malnutrition, liver disease, and hypokalemia. Case Report We report a case of a 67-year-old man who presented with dysphagia and nasal regurgitation and had features suggestive of bulbar palsy on neurological examination. He had spontaneous rapid correction of hyponatremia from a serum sodium level of 122 mEq/L to 132 mEq/L after discharge from our hospital. Neuroimaging was suggestive of extrapontine myelinolysis involving the basal ganglia. Why Should an Emergency Physician Be Aware of This? An emergency physician should be aware of this because osmotic demyelination syndrome should also be considered in the differential diagnosis of patients presenting with bulbar palsy to the emergency department.

Mahmoud A Allam,1 Youssef A Nassar,1 Hosameldeen S Shabana,1 Sadek Mostafa,1 Farag Khalil,1 Hendawy Zidan,1 Mohammed Abo-Ghebsha,2 Amir Abdelghaffar,3 Ahmed Essmat,3 Essam Elmahdi4 1Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt; 2Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt; 3Department of Neurology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt; 4Department of Internal Medicine, Faculty of Medicine, Mansoura University, Mansoura, EgyptCorrespondence: Mahmoud A AllamDepartment of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, 11884, EgyptTel +20222602687Fax +20224020184Email dr.mahmoudallam75@gmail.comBackground and Aim: Diabetic peripheral neuropathy (DPN) is one of the most common and disabling complications of DM. Many studies documented the prevalence of clinical and subclinical hypothyroidism (SCH) in diabetic patients but not in the particular group of patients with DPN. The present study aimed to determine the prevalence of SCH in DPN patients and to evaluate its association with severity of DPN.Patients and Methods: The present cross-sectional study was conducted on 300 consecutive patients with DPN. The clinical manifestations of DPN were documented according to the validated Arabic version of the Michigan Neuropathy Screening Instrument. Severity of DPN was categorized into mild (6– 8 points), moderate (9– 11 points) or severe (12+ points) according to the Toronto Clinical Scoring System. All patients were submitted to careful history-taking and full clinical and neurological examination. Patients were diagnosed with SCH if they had TSH level above the upper limit of the normal reference range in association with normal free thyroxine (FT4) level.Results: SCH was prevalent in 53 patients (17.7%, 95% CI: 13.5%– 22.5%). Patients with SCH had significantly higher frequency of severe DPN (52.8% versus 28.3%, p=0.003). It was also shown that patients with SCH had significantly higher HbA1c (8.4 ± 1.0 versus 7.3 ± 1.2%, p< 0.001) and HOMA-IR (3.7 ± 0.8 versus 2.7 ± 0.9, p< 0.001) when compared with patients without SCH. Logistic regression analysis identified patients’ age [OR (95% CI): 1.06 (1.03– 1.08), p< 0.001], HbA1c [OR (95% CI): 2.2 (1.7– 2.9), p< 0.001] and SCH [OR (95% CI): 7.7 (3.6– 15.5), p< 0.001] as independent predictors of DPN severity.Conclusion: The present study showed that SCH is highly prevalent in DPN patients and is independently related to its severity.Keywords: diabetes mellitus, diabetic peripheral neuropathy, subclinical hypothyroidism, thyroid hormones, thyroid dysfunction

PURPOSE Peripheral nerve and brachial plexus injury can occur from compression or stretching during positioning for operative procedures. The aim of this study was to evaluate the safety of overhead upper extremity positioning to optimize imaging during fenestrated-branched endovascular aortic repair (FB-EVAR) of pararenal (PRA) and thoracoabdominal aortic aneurysms (TAAAs). METHODS Forty-four consecutive patients enrolled in a prospective non-randomized study underwent FB-EVAR with overhead upper extremity positioning. Patients underwent intra-operative neuromonitoring of upper and lower extremities and neurological examination prior to discharge and at 2 months following the procedure. End points were peripheral or brachial plexus nerve injury, quality of lateral projection and cone beam computed tomography (CBCT) and major adverse event (MAEs). RESULTS There were 28 (64%) male patients with mean age of 74 ± 8 years treated for 10 PRAs (23%) and 34 (78%) TAAAs. Mean body mass index was 29 ± 7 kg/m2, with 17 obese patients (39%). Open surgical upper extremity access was used in 19 patients (43%). Three patients (16%) had access-related complications, all focal brachial artery dissections treated by patch angioplasty. Two patients (5%) developed upper extremity changes in neuromonitoring, which immediately resolved with repositioning of the upper extremity. Technical success was 95%. Lateral projection and rotational CBCT were feasible in all patients with satisfactory imaging quality for catheterization and stenting of the celiac axis and superior mesenteric artery. There was one mortality (2%) at 30 days, and six patients (14%) had MAEs. There were no upper extremity neurological injuries. CONCLUSION Overhead upper extremity position allows optimal imaging on lateral projections and rotational CBCT during FB-EVAR. There were no upper extremity neurological injuries in this study.

Background Giant vestibular schwannomas, more than 4.5 cm in diameter, are still representing the majority of vestibular schwannomas in developing countries. The philosophy of incomplete and intracapsular tumor excision has been introduced in the management of these giant tumors, balancing the long-term tumor control and postoperative clinical outcome. Objective The aim was to review the cases with giant vestibular schwannomas and studying their prevalence, morbidity, and mortality rates. Patients and Methods This study was conducted retrospectively on data of patients who had undergone microsurgical excision of vestibular schwannomas in our institute between January and December 2017. The functional outcome of the patients was assessed by comparing the preoperative and the postoperative neurological examination, as well as the Karnofsky performance score. Results Twenty-two cases with vestibular schwannomas were included in this study. Among these 22 cases, 15 cases had giant vestibular schwannomas (68.2%). The tumors’ largest extracanalicular diameters ranged from 4.5 cm to 6.2 cm. Postoperative images showed gross total excision of the tumor in 11 cases (73.3%), and subtotal excisions in four cases (26.7%). Twelve cases (80%) had postoperative facial palsy. We encountered no mortality in our cases and three cases (20%) were symptom-free postoperatively (apart from hearing affection). Conclusion Large and giant vestibular schwannomas are still commonly met in neurosurgical practice in developing countries; they have different behaviors and presentations from those of smaller tumors. Both patient and surgeon expectations from surgery should be toward no mortality and mild or no morbidities.

The study objective is to evaluate the effectiveness of anti‑adhesion gel by using in carpal tunnel syndrome surgery.Materials and methods. A prospective study was carried out among 55 patients with carpal tunnel syndrome. All patients were underwent open decompression of the carpal tunnel. Patients of study group (n = 25) got an carboxymethylcellu‑ lose anti‑adhesion gel, which was applied to the nerve before suturing the wound. Patients from control group (n = 30) were underwent surgery without using an anti‑adhesive gel. Before surgery, all patients underwent a clinical neurological examination with an assessment of symptoms according to the Boston Carpal Tunnel Questionnaire, which includes 2 scales: the scale and the functional status scale. The Boston Carpal Tunnel Questionnaire was reevaluated 2.5 years after surgery.Results. In study group the mean symptom severity decreased by 59.5 %, functional status improved by 55.1 %, in control group these indicators were 48.3 and 47.6 %. Clinical relapse of the disease was noted in 8 % of patients of study group and in 20 % of patients of control group.Conclusion. Intraoperative using of an anti‑adhesion gel allows to reduce the frequency of recurrence of carpal tunnel syndrome after surgical decompression.

ObjectivesTo investigate sensitivity of brain MRI and neurological examination for detection of upper motor neuron (UMN) degeneration in patients with amyotrophic lateral sclerosis (ALS).MethodsWe studied 192 patients with ALS and 314 controls longitudinally. All patients visited our centre twice and underwent full neurological examination and brain MRI. At each visit, we assessed UMN degeneration by measuring motor cortex thickness (CT) and pyramidal tract fibre density (FD) corresponding to five body regions (bulbar region and limbs). For each body region, we measured degree of clinical UMN and lower motor neuron (LMN) symptom burden using a validated scoring system.ResultsWe found deterioration over time of CT of motor regions (p≤0.0081) and progression of UMN signs of bulbar region and left arm (p≤0.04). FD was discriminative between controls and patients with moderate/severe UMN signs (all regions, p≤0.034), but did not change longitudinally. Higher clinical UMN burden correlated with reduced CT, but not lower FD, for the bulbar region (p=2.2×10−10) and legs (p≤0.025). In the arms, we found that severe LMN signs may reduce the detectability of UMN signs (p≤0.043). With MRI, UMN degeneration was detectable before UMN signs became clinically evident (CT: p=1.1×10−10, FD: p=6.3×10−4). Motor CT, but not FD, deteriorated more than UMN signs during the study period.ConclusionsMotor CT is a more sensitive measure of UMN degeneration than UMN signs. Motor CT and pyramidal tract FD are discriminative between patients and controls. Brain MRI can monitor UMN degeneration before signs become clinically evident. These findings promote MRI as a potential biomarker for UMN progression in clinical trials in ALS.

Background Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek family that presented with a CADASIL clinical and neuroimaging phenotype. Methods A 65-year-old man was admitted with recurrent transient episodes of right leg numbness. The patient's medical history started at the age of 50 years with depression and behavioral disorders. His family history was positive for stroke (father), dementia (father and brother), migraine (daughter) and depression (father and daughter). Results Neurological examination disclosed anomic aphasia with severely impaired cognitive status, and brisk reflexes. Brain computed tomography and magnetic resonance imaging showed CADASIL-like leukoencephalopathy (hyperintense lesions in bilateral temporopolar area, external capsule, thalami, centrum semiovale and superior frontal regions) with occipital calcifications and cerebral microbleeds. Screen for variants in NOTCH3 gene was negative. Exome sequencing revealed a novel pathogenic mutation for hCAA. Conclusions We report a novel amyloid precursor protein mutation which results in a CADASIL-like clinical phenotype (progressive cognitive and motor decline, stroke, migraine and behavioral disorders) and CADASIL-leukoencephalopathy coupled with occipital calcifications. Earlier recognition and swift hCAA diagnosis may prompt rational preventive and potential disease-modifying interventions.

Background. The Hemoblastoses are one of the urgent problems of oncohematology. Modern methods for the treatment of hemoblastoses have improved the prognosis significantly. However, the use of chemotherapy is accompanied by a high frequency of drug complications, including those associated with neurotoxicity. The addition of neurological symptoms to the main clinical picture of the disease significantly aggravates the patients condition, affects the prognosis and quality to life. Aim. Compare clinical picture and neurophysiological signs of chemo-induced polyneuropathy in children with acute lymphoblastic leukemia. Materials and methods. Neurological examination and electromyography (EMG), were conducted in 21 children aged 3 to 17 years in Regional Children Clinical Hospital of Yekaterinburg from 2019 to 2020. Results. In the study group, the signs of peripheral polyneuropathy, were revealed in almost all patients receiving induction chemotherapy (95.2%) while clinical neurological symptoms were found in 25% patients. During a 4-month follow-up, all children with subclinical signs of peripheral nerve damage developed corresponding neurological symptoms. According to EMG, the number of patients with mixed polyneuropathy increased by 1.7 times. In every third child, the amplitude of the M-response and nerve conduction velocity, were decreased. Conclusions. Therefore, neurophysiological examination should be performed at an early stage to identify high-risk groups for neurotoxic complications in children with acute lymphoblastic leukemia receiving chemotherapy as timely administration of therapeutic treatment is required.

To document the admission systolic blood pressure (SBP), heart rate (HR), and modified Glasgow coma scale (MGCS) score in dogs with and without brain herniation and to determine their relationship with brain herniation.Retrospective study between 2010 and 2019.University veterinary teaching hospital.Fifty-four client-owned dogs with brain herniation and 40 client-owned dogs as a control group, as determined on magnetic resonance imaging.None.SBP, HR, MGCS score, and outcome were extracted from medical records. MGCS score was retrospectively calculated based on initial neurological examination in dogs with adequate available information. Dogs with brain herniation had a significantly higher SBP (P = 0.0078), greater SBP-HR difference (P = 0.0006), and lower MGCS score (P 0.0001) compared to control dogs. A cutoff value of an SBP ≥ 178 mm Hg, SBP-HR ≥ 60, and MGCS score ≤ 14 each provides a specificity of 90%-98%. A combination of an SBP 140 mm Hg and HR 80/min provided 24% sensitivity and 100% specificity to diagnose dogs with brain herniation (P 0.0001).A high SBP, a greater difference between SBP and HR, a combination of higher SBP and lower HR, and a low MGCS score were associated with brain herniation in dogs presenting with neurological signs upon admission. Early recognition of these abnormalities may help veterinarians to suspect brain herniation and determine timely treatment.

Forty one soldiers were examined in the acute period of the concussion of the brain, among which 22 were injured by the blast wave. All patients underwent neurological examination with the study of recommended pathological reflexes (related to face, hands and feet). Neurological status revealed pyramidal, cerebellar signs, symptoms of meningism. The conducted research showed that in the acute period of the concussion of the brain due the blast wave, a significant number of neurological symptoms were revealed, namely pathological axial and symmetrical carpal and foot reflexes. The defined group of pathological reflexes is an indispensable feature of the concussion of the brain as a result of the blast wave. Clinical evaluation of neurological status emphasizes the importance of this affordable and simple method. Timely identification and recognition of pathological symptomatology may have an extremely valuable clinical significance. Therefore, injured persons with concussion of the brain require specialized in-patient treatment in medical institutions level III–IV in order to provide them with neurovisual methods of investigation, dosage regimen of work and rest, medical supervision, modern medical and physiotherapeutic treatment, including psychotherapeutic one, to prevent the development of post-traumatic stress and diencephalic disorders, epileptic seizures, traumatic brain disease.

Purpose Cardiopulmonary resuscitation guidelines recommend multimodal neuro-prognostication after cardiac arrest using neurological examination, electroencephalography, biomarkers, and brain imaging. The Patient State Index (PSI) and suppression ratio (SR) represent the depth and degree of sedation, respectively. We evaluated the predictive ability of PSI and SR for neuro-prognostication of post-cardiac arrest patients who underwent targeted temperature management. Methods This prospective observational study was conducted between January 2017 and August 2020 and enrolled adult patients in an intensive care unit (ICU) with non-traumatic out-of-hospital cardiac arrest with return of spontaneous circulation (ROSC). PSI and SR were monitored continuously during ICU stay, and their maximum, mean, and minimum cutoff values 24 h after ROSC were analyzed to predict poor neurologic outcome and long-term survival. Results The final analysis included 103 patients. A mean PSI ≤ 14.53 and mean SR > 36.6 showed high diagnostic accuracy as single prognostic factors. Multimodal prediction using the mean PSI and mean SR showed the highest area-under-the-curve value of 0.965 (95% confidence interval 0.909–0.991). Patients with mean PSI ≤ 14.53 and mean SR > 36.6 had relatively higher long-term mortality rates than those of patients with values >14.53 and ≤ 36.6, respectively. Conclusions The PSI and SR are good predictors for early neuro-prognostication in post-cardiac arrest patients.

Background: The COVID-19 pandemic, induced by the worldwide spreading of the SARS-CoV-2, is well known for its clinical picture consistent with respiratory symptoms. If pulmonary complications are the most common manifestation of the disease, neurological problems are also significantly present, with complications including acute cerebrovascular events, encephalitis, Guillain-Barré and Miller Fisher syndromes, acute necrotizing hemorrhagic encephalopathy and hemophagocytic lymphohistiocytosis. These medical signs can be considered direct effects of the virus on the nervous system, para-infectious or post-infectious immune-mediated diseases, and neurological complications of the systemic effects of the SARS-CoV-2. Case: In the present article, the encephalitis case in a 5-year-old girl positive for COVID-19 admitted to the emergency department complaining of fever and swelling in the neck is described. At this time, her neurological examination was unremarkable. Over the next few days, the fever went down and she experienced acute behavioral changes, mild confusion, and drowsiness. The brain MRI and electroencephalography (EEG) showed CNS involvement, suggestive of encephalitis. Conclusion: The dramatic improvement of the symptoms after immunotherapy with corticosteroids reinforced the hypothesis of an immune-related mechanism.

Symptoms of peripheral nervous system (PNS) damage are common clinical manifestations of systemic amyloidosis. Peripheral amyloid neuropathy is characterized by a progressive course, leading to the disability of patients; however, the current possibilities of pathogenetic therapy make the early diagnosis of amyloid neuropathy particularly urgent.Objective: to evaluate the informative value of laser confocal microscopy (LCM) of the cornea in diagnosing small fiber neuropathy of peripheral nerves in patients with systemic amyloidosis.Patients and methods. The study included nine patients (three men and six women) with morphologically confirmed primary amyloidosis (ALamyloidosis) and 12 patients (three men and nine women) with hereditary transthyretin amyloidosis (TTR-amyloidosis) verified by genetic and morphological methods. At baseline, the mean age of patients with AL-amyloidosis was 60.6±10.7 years, with hereditary TTR-amyloidosis – 57.1±13.1 years. According to the history of the disease in AL-amyloidosis, the mean duration of clinical symptoms was 2.7±1.4 years, with TTR-amyloidosis – 5.5±3.6 years. 20 age- and sex-adjusted healthy volunteers were included in the control group. All patients underwent a clinical neurological examination with an assessment of the severity of neuropathy according to the Neuropathy Impairment Score (NIS); 21 patients with systemic amyloidosis and all volunteers of the control group underwent LCM of the corneal nerve fibers (CNF). The coefficients of anisotropy (КΔL) and orientation symmetry (Ksym) of the CNF were calculated to assess the severity of damage to the corneal nerves.Results and discussion. Clinical neurological examination in patients with AL-amyloidosis revealed polyneuropathic syndrome (45%), tunnel syndrome (22%), their combination (22%), and autonomic dysfunction in the form of orthostatic hypotension and impaired motility of the gastrointestinal tract (GI tract; 56%). Symptoms in patients with TTR-amyloidosis were characterized by a combination of tunnel neuropathy and sensory-motor polyneuropathy (50%), distal symmetric polyneuropathy (42%). Frequent symptoms of PNS damage in systemic amyloidosis include autonomic neuropathy (56% – in AL-amyloidosis, 92% – in TTR-amyloidosis) presenting with orthostatic hypotension, impaired gastrointestinal motility, hypohidrosis, and dysuria. The mean NIS score, which characterizes the severity of somatic neuropathy, was significantly higher in patients with TTR-amyloidosis than AL-amyloidosis (pConclusion. Clinical polymorphism of peripheral somatic and autonomic nervous systems lesions is typical for patients with systemic amyloidosis. LCM of the cornea is informative in the diagnosis of small fibers neuropathy of peripheral nerves in systemic amyloidosis; however, it cannot establish the nosology of neuropathy.

Background Epidermoid tumors (ETs) of the central nervous system (CNS) are rare tumors that typically occur in the 4th decade. They typically grow around vital neurovascular structures which makes surgical treatment difficult. The objective of this paper is to report on the effectiveness and safety in the management of epidermoid tumors with gamma knife surgery (GKS). Materials and methods This is a retrospective study of the medical records of 8 patients treated with GKS for epidermoid tumors between July 2010 to June 2019. The median prescription dose was 11 Gy, ranging from 10 to 12 Gy, 5 patients received the total dose target to the 50% line and 3 to the 55% isodose line. The mean tumor volume was 12.4 cc ranging from 4.4 to 24.8cc. The median follow-up time was 33.7 months and ranged from 0.9 to 58.8 months. At follow-up, patients were evaluated for neurological signs and symptoms and radiographic evidence of progression of disease. Two patients were treated after failure of linac stereotactic radiosurgery. One patient underwent stereotactic radiosurgery prior to GKS, and the other had failed surgical resection prior to GKS. Results The median age was 33 years old. There were two males and six females. The most common presenting manifestation was headaches followed by vision and hearing problems. Symptoms were resolved in all cases, except for one who had partial control of trigeminal neuralgia. All patients were locally controlled by imaging and neurological examination at first follow-up. Conclusion Gamma knife surgery is a safe and effective alternative treatment in patients with CNS epidermoid tumors and should be included in the initial recommendation.

A 65-year-old right-handed retired male firefighter presented following a fall. He had a 3-month history of scrotal paraesthesia that had insidiously evolved to bilateral leg weakness. Following hospital admission, he developed acute urinary retention requiring catheterisation. He had a history of ulcerative colitis, which was well controlled with mesalazine. He was an ex-smoker and did not drink alcohol. Cranial nerve and upper limb examinations were unremarkable. On lower limb examination, tone was normal. He had mild (Medical Research Council grade 4/5) bilateral and symmetrical weakness involving hip and knee flexion, and ankle dorsiflexion. There was a sensory level to T7. Joint position was impaired in the lower limbs, and vibration sense was absent below the xiphisternum. Knee and ankle jerks were absent, and plantar responses were mute. Although there were no obvious upper motor neurone signs, three clinical signs on lower limb neurological examination suggested localisation to the spinal cord. Firstly, the presence of a sensory level at T7 implied involvement of the thoracic cord. Secondly, the pyramidal pattern of weakness (flexors preferentially affected more than extensors in the lower limbs) suggested corticospinal tract dysfunction, and finally, the acute sphincter dysfunction in the context of lower limb weakness pointed to involvement of the lower cord. It is important to keep in mind that peripheral lesions affecting the cauda equina may also present with a sphincter disturbance, but this would not explain the sensory level. Cord pathologies can present without upper motor neurone signs particularly in the acute phase (spinal shock). However, this patient’s symptoms had started 3 months before admission. Conus medullaris lesions often have a mixture of upper and lower motor neurone signs with early sphincter dysfunction. Nevertheless, if this patient has a lesion involving the conus medullaris it would have to extend upwards to T7 to explain the …

We report a case and a literature review of delayed postoperative cervical spinal cord injury after thoraco-lumbar spine surgery. A 13-year-old Prader-Willi Syndrome female was treated by a T3-L5 posterior spine fusion for progressive scoliosis. Intraoperative neuromonitoring and immediate postoperative neurological examination were normal. Sixty hours after surgery, she developed a tetraplegia. The immediate MRI and CT scan of the spine were negative. Two days after, a new MRI revealed an ischemic cervical lesion at the level C5-C6. After 1 week, she gradually improved breathing and motility/sensibility at the extremities. After 4 months of intensive neurologic rehabilitation, the patient improved to ASIA grade D and was discharged. At 1-year follow, the neurologic recovery was nearly completed. We performed a systematic review of the literature through PubMed and Embase database focused on delayed postoperative cervical spinal cord lesion after a thoraco-lumbar fusion for spinal deformity. Only 14 cases of neurological injuries at levels above the site of surgery have been previously reported and never in Prader Willy Syndrome. All patients were adolescent and 86,7% were females but no specific risk factors were found. Delayed postoperative neurological deficit far from the surgical site can be considered a specific subgroup of these rare complication that can occur several hours after spine surgery, regardless of intraoperative complication. Despite the rarity of this complication, clinicians should be aware of it. Perioperative optimization of spinal cord perfusion and close neurological examination in first postoperative days may be helpful to quickly recognize and treat this complication.