Neurological Examination Findings Research Articles

Testing the Validity and Reliability of a Standardized Virtual Examination for Concussion.

We determined inter-modality (in-person vs telemedicine examination) and inter-rater agreement for telemedicine assessments (2 different examiners) using the Telemedicine Buffalo Concussion Physical Examination (Tele-BCPE), a standardized concussion examination designed for remote use. Patients referred for an initial evaluation for concussion were invited to participate. Participants had a brief initial assessment by the treating neurologist. After a patient granted informed consent to participate in the study, the treating neurologist obtained a concussion-related history before leaving the examination room. Using the Tele-BCPE, 2 virtual examinations in no specific sequence were then performed from nearby rooms by the treating neurologist and another neurologist. After the 2 telemedicine examinations, the treating physician returned to the examination room to perform the in-person examination. Intraclass correlation coefficients (ICC) determined inter-modality validity (in-person vs remote examination by the same examiner) and inter-rater reliability (between remote examinations done by 2 examiners) of overall scores of the Tele-BCPE within the comparison datasets. Cohen's kappa, κ, measured levels of agreement of dichotomous ratings (abnormality present vs absent) on individual components of the Tele-BCPE to determine inter-modality and inter-rater agreement. For total scores of the Tele-BCPE, both inter-modality agreement (ICC = 0.95 [95% CI 0.86-0.98, p < 0.001]) and inter-rater agreement (ICC = 0.88 [95% CI 0.71-0.95, p < 0.001]) were reliable (ICC >0.70). There was at least substantial inter-modality agreement (κ ≥ 0.61) for 25 of 29 examination elements. For inter-rater agreement (2 telemedicine examinations), there was at least substantial agreement for 8 of 29 examination elements. Our study demonstrates that the Tele-BCPE yielded consistent clinical results, whether conducted in-person or virtually by the same examiner, or when performed virtually by 2 different examiners. The Tele-BCPE is a valid indicator of neurologic examination findings as determined by an in-person concussion assessment. The Tele-BCPE may also be performed with excellent levels of reliability by neurologists with different training and backgrounds in the virtual setting. These findings suggest that a combination of in-person and telemedicine modalities, or involvement of 2 telemedicine examiners for the same patient, can provide consistent concussion assessments across the continuum of care.

A Retrospective Study on Botulinum Toxin Injection in Patients With Multiple Sclerosis Related Tremor: A Treatment Option Worth Trying

Objectives Multiple sclerosis (MS)-related tremor remains a disabling problem that often responds poorly to medical treatments. This study aims to evaluate the effect of botulinum toxin type A on MS-related upper limb tremor. Methods This retrospective observational cohort study included 8 patients who received intramuscular injections of onabotulinum toxin type A for medically refractory MS-related tremor. Hospital records before and 4–6 weeks after treatment, including the Fahn-Tolosa-Marin Tremor rating scale (FTM-TRS), electrophysiological tremor analysis, neurological examination findings, and videos, were reviewed retrospectively. Results There was significant improvement after botulinum toxin injection in the FTM TRS part A score for tremor (P = 0.011), FTM TRS part B score for hand function (P = 0.011), FTM Part score for activities of daily living (P = 0.012), and FTM TRS total score for overall evaluation (P = 0.012). Electrophysiological tremor analysis revealed maximal tremor amplitudes between 700–2000 μV (before treatment) and between 300–1000 μV (after treatment). The mean tremor amplitudes before and after treatment were 1350 μV and 725 μV, respectively. No adverse reactions were observed after botulinum toxin treatment. Conclusions BoNT may improve upper limb tremor and functionality in MS-related tremor. The treatment involved administering BoNT under EMG guidance, with careful muscle selection based on clinical assessment and EMG findings. This approach aimed to optimize treatment efficacy while minimizing potential adverse effects. Further studies are warranted to confirm these findings.

Clinical and magnetic resonance imaging features of unilateral thalamic porencephaly in a dog

AbstractA 1‐year‐3‐month‐old, female, neutered labrador retriever was presented with a history of circling behaviour since 2 months of age and a recently detected blindness affecting its right eye. Neurological examination revealed a left‐sided head tilt, compulsive tight circling towards the left, postural reaction deficits in the right thoracic and pelvic limbs, absent menace response in the right eye and ventral positional strabismus of the left eye. The neurological examination findings were localised to the left thalamus. Magnetic resonance imaging of the head revealed porencephaly involving the left dorsal aspect of the thalamus. Furthermore, reduced volume of the left rostral colliculus, crus cerebri and optic chiasm, alongside marked thinning of the left cerebral hemispheric white matter tracts with associated left lateral ventriculomegaly, were present. Based on magnetic resonance imaging features and clinical history, a congenital or perinatal encephaloclastic porencephaly with secondary hypoplasia or atrophy of the associated thalamic projection pathways was prioritised.

Clinical presentation and symptomatology of Guillain-Barré syndrome: A literature review.

Guillain-Barré Syndrome (GBS) is a rare but potentially life-threatening neurological disorder characterized by acute onset ascending paralysis and sensory abnormalities. This article provides a comprehensive overview of GBS, covering its epidemiology, etiology, clinical presentation, diagnostic evaluation, management and treatment, prognosis, psychosocial impact, recent advances in research, public health implications, and ethical considerations. Epidemiological data reveal variations in GBS prevalence, incidence rates, and geographical distribution influenced by climate, infectious disease prevalence, and genetic susceptibility. Etiological factors include preceding infections, vaccinations, and autoimmune mechanisms, although the precise pathophysiology remains incomplete. Clinical presentation encompasses prodromal symptoms, motor deficits, sensory abnormalities, autonomic dysfunction, and variants such as Miller-Fisher Syndrome and Bickerstaff brainstem encephalitis. Neurological examination findings include weakness, paralysis, sensory deficits, and reflex changes, while autonomic dysfunction manifests as cardiovascular, respiratory, and gastrointestinal symptoms. Diagnostic evaluation relies on clinical criteria, laboratory tests (e.g., cerebrospinal fluid analysis, nerve conduction studies), and consideration of differential diagnoses. Management strategies encompass supportive care, immunomodulatory therapies (e.g., intravenous immunoglobulin, plasma exchange), and rehabilitation interventions to optimize functional outcomes and promote recovery. Prognosis varies depending on clinical features, treatment response, and complications such as respiratory failure and autonomic instability. Psychosocial impact encompasses psychological effects on patients and caregivers, highlighting the importance of coping strategies and support systems. Recent advances in research focus on emerging treatments, genetic predisposition, and biomarker discovery, offering promise for improving GBS outcomes. Public health implications include vaccination safety concerns and healthcare system considerations for GBS management. Ethical considerations encompass patient autonomy, resource allocation, and end-of-life decision-making.

LGG-43. LASER-ASSISTED ENDOSCOPIC RESECTION OF TECTAL GLIOMA IN A 3-YEAR-OLD CHILD

Abstract BACKGROUND Pediatric tectal gliomas generally have a benign clinical course. However, some patients may present with non-communicating hydrocephalus needing endoscopic procedures. Historically, lasers have been used in neurosurgical procedures including neuroendoscopy, but their adoption was limited by a significant rate of complication due to their inappropriate wavelength and uncontrollable tissue interaction. Recently, a 2-micron near-infrared laser with adequate wavelength and minimal tissue penetration became available. CASE-REPORT We describe the case of a 3-year-old child who presented with gait ataxia, papilloedema and headache. Magnetic Resonance (MR) was performed and he was diagnosed with obstructive hydrocephalus due to tectal glioma. Endoscopic third ventriculostomy (ETV) and simultaneous endoscopic biopsy were performed during the same surgery using a single burr hole with a rigid endoscope, a 2-micron continuous-wave thulium laser and the aid of neuronavigation. After tumoral sample removal, the laser was used for hemostasis and to evaporate tissue near the tumour without mechanical stress to the brain tissue. The final histological analysis identified a non-otherwise specified (NOS) low-grade glioma. The hospitalization was uneventful and the boy was discharged home after 4 days. No new cognitive impairment was reported secondary to this procedure and the symptoms present in the preoperative period completely improved. At 1-year follow-up, neurological examination findings were unremarkable, and there was no radiographic evidence of tumour progression. CONCLUSIONS The use of the neuroendoscopic laser permits cutting and coagulating simultaneously, avoiding multiple instruments’ use (forceps and coagulation). It therefore makes neuroendoscopic procedures more straightforward with a minimum need to change tools, and particularly suitable also in a pediatric setting.

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10

BackgroundPontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. MethodsPhenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. ResultsPatients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. ConclusionsProgressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.

Introduction to the assessment and management of persistent postural-perceptual dizziness.

Persistent postural-perceptual dizziness classifies patients with chronic dizziness, often triggered by an acute episode of vestibular dysfunction or threat to balance. Unsteadiness and spatial disorientation vary in intensity but persist for over three months, exacerbated by complex visual environments. Literature suggests diagnosis relies on a clinical history of persistent subjective dizziness and normal vestibular and neurological examination findings. Behavioural diagnostic biomarkers have been proposed, to facilitate diagnosis. Research has focused on understanding the neural mechanisms that underpin this perceptual disorder, with imaging data supporting altered connectivity between neural brain networks that process vision, motion and emotion. Behavioural research identified the perceptual and motor responses to a heightened perception of imbalance. Management utilises head and body motion detection, and downregulation of visual motion excitability, reducing postural hypervigilance and anxiety. Combinations of physical and cognitive therapies, with antidepressant medications, help if the condition is associated with mood disorder.

Use of levetiracetam for the successful treatment of suspected myoclonic seizures: five dogs (2016-2022).

Myoclonic seizures are considered a type of generalised seizure characterised by brief, jerking movements of the body. The aim of this study is to describe cases of suspected canine myoclonic seizure of idiopathic aetiology and to discuss the successful use of the anticonvulsant levetiracetam as treatment in each of these cases. Dogs with epileptic myoclonus suspected to be idiopathic in aetiology were considered for inclusion. Medical records were reviewed for physical and neurologic examination findings, clinicopathologic results, and diagnostic imaging results. All included dogs were treated with levetiracetam, and their response was reported. Five dogs were included, all of which had suspected myoclonic seizures either observed in-person or on video recording by a board-certified veterinary neurologist. The duration of myoclonic seizures preceding treatment ranged from one day to one year. One dog also experienced a generalised tonic-clonic seizure. All dogs were treated with levetiracetam. Two dogs experienced long-term myoclonic seizure freedom (duration seizure-free of at least 1 year), and two dogs experienced marked decreased myoclonic seizure frequency. One dog experienced immediate abatement of myoclonic seizures, although levetiracetam was only utilised for 1 month following onset of myoclonic seizures in this patient. Myoclonic seizures can be idiopathic in aetiology. Levetiracetam can be used effectively to rapidly stop myoclonic seizures and to decrease the frequency of myoclonic seizures.

Retrospective Evaluation of Attacks, EDSS Scores, and MRI Changes Before the Start of Treatment and One Year After the Start of Treatment in Patients Followed by a Diagnosis of Multiple Sclerosis and Using Ocrelizumab in Our Clinic

Objective: Depletion of B cells by anti-CD20 monoclonal antibodies has been proven to reduce relapsing remitting multiple sclerosis (RRMS) activity and progression of primary progressive MS (PPMS). In our study, we aimed to retrospectively present our clinical experience and contribute to real-life data after the use of Ocrelizumab. Material and Methods: Patients aged 18-55 years using Ocrelizumab and diagnosed with MS by McDonald's 2017 criteria were included. Neurological examination findings and EDSS findings available in our file records were used to evaluate the level of disability. Patients with MRI lesions consistent with their clinical complaint lasting more than 24 hours were evaluated as an attack. Patients' ages, MS diagnosis times, and previous immune modulatory treatments were recorded. The number of T2, FLAIR sequence MRI lesions, EDSS before ocrelizumab, and the number of T2, FLAIR sequence MRI lesions 1 year after receiving ocrelizumab were recorded. After 1 year of follow-up, the absence of attacks, no increase in the number of lesions in MRI, and no progress in EDSS were accepted as NEDA 3. Results: Our cases in this study include 30 MS patients. Patients were 26.7% relapsing remitting MS (RRMS), 26.7% primary progressive MS (PPMS), and 46.7% secondary progressive MS (SPMS). There was no attack in 87.5% of the RRMS patient group. In the SPMS patient group, no attacks were observed after ocrelizumab in the cases with attacks. In our study, the rate of patients who did not develop new T2 lesions and whose lesions disappeared was 62.5% in the RRMS patient group, 78.5% in the SPMS patient group, and 75% in the PPMS patient group. In the total patient group, the rate of patients without EDSS increase was 93% (28 patients). Conclusion: In our study, it was determined that ocrelizumab was effective by reducing the attack rates, preserving the EDSS scores and preventing the increase in the lesion burden. Our findings are consistent with real-life data.

A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis

BackgroundTo analyze the clinical and neuroimaging features, risk factors, treatment choices, and long-term clinical outcomes in children with cerebral sinus venous thrombosis (CSVT). MethodsThis is a retrospective cohort study of children diagnosed with CSVT between 2002 and 2018 at Texas Children's Hospital. ResultsA total of 183 children (male: 62.3%) with CSVT were included. The average presenting age was 7.7 years (S.D.: 5.6). The mean follow-up duration was 33.7 months (S.D.: 38.6). The most common presenting clinical feature was headache (36.6%). Head and neck infections other than meningitis (36.6%) were the most common risk factors. Prevalent neurological examination findings included motor deficit (21.3%) and altered mental status (AMS, 20.2%). Neuroimaging features included hemorrhagic infarction (19.6%), ischemic infarction (8.2%), and intracranial hemorrhage without infarction (5.5%). The most common site of thrombosis was the superior sagittal sinus (37.2%), with 78.2% of patients demonstrating involvement of multiple sinuses. Treatment of choice was low-molecular-weight heparin in 69.4% of patients. Factors associated with worse clinical outcomes included head and neck infections, malignancy (other than hematologic), cardiac disease, and recent surgery; seizure and dehydration on initial presentation; motor abnormalities and AMS on initial examination; ischemic infarct only; and involvement of vein of Trolard on neuroimaging. Thrombus condition on repeat imaging, receiving any anticoagulant/antithrombotic treatment, treatment duration, or follow-up duration was not associated with severity of long-term outcome. ConclusionsCSVT may lead to unfavorable long-term outcomes in a remarkable portion of pediatric patients. Thus, a high index of suspicion and early and appropriate management of pediatric CSVT is imperative.

Childhood vertigo: A retrospective series of 791 cases

Background: Vertigo is one of the most common complaints leading to admissions in pediatric neurology clinics. Diagnosis of vertigo in children is often challenging due to limited communication capacity in defining symptoms, the unreliability of neurovestibular investigations in children and the variability of etiologies. The aim of this study is to evaluate clinical and etiological profile of vertigo in childhood and to assess the diagnostic yield of neuroimaging and electroencephalography (EEG). Methods: All patients under the age of 18 years presented with vertigo to the pediatric neurology outpatient clinic of Ankara Keçiören Research and Training Hospital were included in the study. Demographic data, accompanying symptoms, family history, physical and neurological examination findings, neuroimaging, and EEG results were retrospectively analyzed. The etiological spectrum was also evaluated according to age groups. Results: A total of 791 patients (female/male=2.1) with a mean age of 13.1 years were included in the study. The most common etiologies were vestibular migraine (27.3%) and psychogenic vertigo (14.9%) in the entire cohort; whereas benign paroxysmal vertigo of childhood was the top diagnosis in children ≤12 years (25%). The most common accompanying symptom was headache (36.7%) which was most frequently associated with vertigo attacks in migrainous patients. In most cases there was no correlation between neuroimaging findings and vertigo. Additionally, the contribution of EEG to the diagnosis was found to be limited. Conclusion: Most of the childhood vertigo cases can be diagnosed accurately by a detailed medical history, physical and neurological examination. A multidisciplinary approach is essential for evaluating childhood vertigo and all the signs and symptoms accompanying vertigo should be considered while planning further investigations including neuroimaging and EEG.

Clinical signs, causes, and outcome of central cord syndrome in 22 cats.

To describe the signalment, clinical findings, presumptive or definitive diagnosis, and outcome in cats with central cord syndrome (CCS). 22 cats. Cats evaluated for CCS at 7 referral hospitals between 2017 and 2021 were included. Information retrieved from medical records included signalment, physical and neurological examination findings, diagnostic investigations, definitive or presumptive diagnosis, treatment, and follow-up. Median age at presentation was 9 years. Two neuroanatomical localizations were associated with CCS: C1-C5 spinal cord segments in 17 (77.3%) cats and C6-T2 spinal cord segments in 5 (22.7%) cats. Neuroanatomical localization did not correlate with lesion location on MRI in 8 (36.3%) cats. The most common lesion location within the vertebral column was over the C2 and C4 vertebral bodies in 6 (27.2%) and 5 (22.7%) cats, respectively. Peracute clinical signs were observed in 11 (50%) cats, acute in 1 (4.5%), subacute in 4 (18%), and chronic and progressive signs were seen in 6 (40.9%) cats. The most common peracute condition was ischemic myelopathy in 8 (36.3%) cats, whereas neoplasia was the most frequently identified chronic etiology occurring in 5 (22.7%) cats. Outcome was poor in 13 (59%) cats, consisting of 4 of 11 (36.6%) of the peracute cases, 3 of 4 (75%) of the subacute cases, and 6 of 6 of the chronic cases. Central cord syndrome can occur in cats with lesions in the C1-C5 and C6-T2 spinal cord segments. Multiple etiologies can cause CCS, most commonly, ischemic myelopathy and neoplasia. Prognosis depends on the etiology and onset of clinical signs.

Diagnosis of lymphoma based on magnetic resonance imaging, analysis of cerebrospinal fluid, intraocular fluid and fine‐needle aspirate of a uveal mass lesion in a dog

AbstractA 10.5‐year‐old, male, entire labrador retriever dog was presented for chronic progressive ataxia and recent onset of a left‐sided head tilt and salivation. Neurological examination findings were deemed consistent with a multifocal brain and spinal cord neuroanatomic localisation. Ophthalmological examination of the right eye revealed pupil shape abnormality (dyscoria), a pale uveal mass lesion and white cellular sediment in the anterior chamber. Magnetic resonance imaging of the brain, eyes, thoracolumbar and lumbosacral spinal cord and surrounding structures showed multiple lesions affecting the central nervous system (brain), peripheral nervous system (left trigeminal nerve) and right eye. Cerebrospinal fluid, right eye anterior chamber fluid and fine‐needle aspirate biopsy of the uveal mass lesion yielded a cytological diagnosis of lymphoma (suspected large granular lymphocytic). The dog was discharged with palliative treatment and euthanased at home 4 days later. This case report documents the cytological diagnosis of lymphoma in the cerebrospinal fluid, intraocular fluid and fine‐needle aspirate of a uveal mass in a dog.

Abstract WP203: Prediction of Outcome After Endovascular Therapy for Acute Ischemic Stroke: A Machine Learning Approach From Japan Stroke Data Bank

Introduction: Previous studies have demonstrated the predictive capabilities of machine learning (ML) models using clinical, imaging, and angiographic characteristics in determining the clinical outcome of patients undergoing endovascular treatment for acute ischemic stroke. We aimed to analyze a large-scale stroke registry and develop an ML model that solely utilizes clinical characteristics, without the need for imaging or angiographic data, to predict the outcome of patients treated with endovascular therapy for acute ischemic stroke. Methods: We conducted our analysis using data from the Japan Stroke Data Bank, a nationwide acute stroke registry containing individual patient data. A total of 4353 patients who underwent endovascular treatment for acute ischemic stroke between January 2016 and December 2020 were included in the study. Patient data from 2016 to 2019 were used as the derivation cohort, while data from 2020 were used as the validation cohort. An ML models were trained on 70% of the patients randomly selected from the derivation cohort and tested on the remaining 30%. The input variables for the ML models consisted of 138 clinical characteristics including neurological examination findings. Imaging, angiographic, and laboratory data were not utilized in the ML process. The primary outcome measure was good outcome at discharge, defined as a modified Rankin Scale score of 0-2. Results: Of the 4353 patients included in the study, 1520 patients (34.9%) achieved good outcome. The area under the curve for predicting good outcome was 0.76 for the test set in the derivation cohort and 0.78 for the validation cohort. The SHAP summary plot revealed that the top five major predictive contributors for good outcomes were pre-stroke modified Rankin Scale score, level of consciousness, age, stroke classification, and NIHSS score. Conclusions: Our findings demonstrate that an ML model utilizing solely clinical characteristics, without the inclusion of imaging or angiographic data, can accurately predict good outcomes at discharge for acute stroke patients treated with endovascular therapy. This approach has the potential to provide an aid in clinical decision-making before imaging examination.

Brachial Gunshot Wounds: Injury Patterns and Considerations for Managing the Abnormal Neurological Examination.

Nerve injuries from gunshot wounds (GSWs) to the upper arm can cause significant morbidity and loss of function. However, indications for surgical exploration and nerve reconstruction remain unclear as both low- and high-grade injuries can present with an abnormal neurological examination. Adult patients presenting with a history of isolated GSW to the upper arm between 2010 and 2019 at a single urban level 1 trauma center were screened for inclusion in this retrospective study. Patient demographics, neurological examination findings, concurrent injuries, and intraoperative findings were gathered. Bivariate analysis was performed to characterize factors associated with nerve injuries. There were 139 adult patients with isolated brachial GSWs, and 49 patients (35%) presented with an abnormal neurological examination and significantly associated with concurrent humerus fractures (39% vs 21%, P = .026) and brachial artery injuries (31% vs 2%, P < .001). Thirty of these 49 patients were operatively explored. Fifteen patients were found to have observed nerve injuries during operative exploration including 8 patients with nerve transections. The radial nerve was the most commonly transected nerve (6), and among the 16 contused nerves, the median (8) was most common. Nerve injury from upper arm GSWs is common with directly traumatized nerves confirmed in at least 39% and nerve transection in at least 16% of patients with an abnormal neurological examination. Timely referral to a hand and/or peripheral nerve surgeon for close clinical follow-up, appropriate diagnosis, and any necessary surgical reconstruction with nerve grafts, tendon transfers, and nerve transfers is recommended.

Can qualitative cervical tractography predict clinical findings as effectively as it aids surgical planning today?

The aims of this study were to investigate cervical spinal tractography (CST) and diffusion tensor imaging findings in patients with intramedullary cervical spinal cord (CSC) tumors and to evaluate the association between qualitative diffusion tensor tractography (DTT) findings and neurological examination findings (NEF). Neuroradiology case records were retrospectively evaluated to identify patients with intramedullary CSC tumors who underwent cervical spinal DTT. Conventional magnetic resonance imaging (MRI) and DTT were performed using a 3.0-T MRI system. Demographic data, CST and clinical findings, fractional anisotropy (FA), and apparent diffusion coefficient (ADC) were recorded. The sensitivity, specificity, and positive and negative predictive values (PPV and NPV, respectively) were calculated. This study enrolled 31 patients (16 women and 15 men) with a mean age of 35.2 ± 15.6 years (range: 1-70 years). The mean FA and ADC were 0.34 ± 0.45 and 1.88 ± 0.89, respectively. Physical examination revealed hemiparesis (16.1%), hemihypesthesia (19.3%), and quadriparesis (3.2%). Completely normal neurological findings were observed in 61.3% of the patients. DTT revealed deviation (n = 15), deformation (n = 11), and interruption (n = 5) of the fibers. No significant relationship was observed between NEF and DTT findings (P = 0.127). The sensitivity, specificity, PPV, and NPV of DTT for CSC tracts were 100%, 0%, 38.7%, and 0%, respectively. Although qualitative DTT of the CSC might be useful for planning and preservation of the fiber tracts during intramedullary tumor surgery, it did not exhibit significant association with clinical findings in this study.

X-linked Adrenoleukodystrophy Masquerading as Mood Disorder in an Adolescent Boy

X-linked adrenoleukodystrophy (ALD) is a demyelinating neurodegenerative disease of the brain with neurological manifestations in the majority of cases. However, a small proportion of cases also present solely with psychiatric symptoms. Here, we discuss the case of a 13-year-old boy presenting with mood symptoms, behavioral changes, and cognitive impairment. A neurodegenerative disease was suspected based on the atypical findings in history and abnormal neurological examination. Neuroimaging and pathogenic variations in the ABCD1 gene confirmed the diagnosis. Thorough history and detailed examination remain the cornerstone in arriving at the right diagnosis, aided by need-based advanced investigations.

A Rare and Unusual Case of Ataxia Telangiectasia with Cervical Dystonia from India

We reported a rare and unusual case ATM gene variant responsible of familial Ataxia-Telangiectasia (A-T) with cervical dystonia rather than ataxia as hall mark clinical manifestations in 18-year-old male patient from India. Patient was presented with clinical indications of neck rotatory movements in the last 2 years. Initially intermittent, slowly become constant with more backwards turning and painful movements with severe disability. Examination findings revealed no conjunctival telangiectasia and neurological examination findings suggestive of cervical dystonia with severe retro collis. The patient has a family history of dystonia, his sister started noticing involuntary neck movement in the last 1.5 years with gradual progression. Her physical examination revealed no evidence of conjunctival lesions and neurological examination suggestive of cervical dystonia with lateral collis. MRI findings of patient were normal. Both the patient and her sister are siblings of a consanguineous product. Patient has been referred for whole exome sequencing. The exome data analysis identified a novel homozygous missense variant c.5751A&gt;T, p.Arg1917Ser (chr11:108307973A&gt;T) in ATM gene responsible for familial A-T with cervical dystonia without chorea as hall mark clinical manifestations. In conclusion, to the best of our literature knowledge this is the rare and unusual case from India wherein we are reporting a novel homozygous missense variant c.5751A&gt;T, p.Arg1917Ser (chr11:108307973A&gt;T) in ATM gene responsible for familial A-T with cervical dystonia rather than ataxia as hall mark clinical manifestations affecting both brother and sister in the same family. Thus, early onset of cervical dystonia should be taken into account as a key characteristic of variant A-T, which can manifest without general ataxia and may cause adults with primary dystonia to receive an incorrect diagnosis.

Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.

Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients. The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II). A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems. This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.

Prognostic factors in patients with cerebral sinus venous thrombosis presenting with hemorrhage and papilledema

ObjectiveThe thromboinflammatory process is considered to play a role in the pathogenesis and prognosis of cerebral sinus vein thrombosis (CSVT). The purpose of the study was to compare the thromboinflammatory parameters between individuals with CSVT and healty controls. Additionally, the study sought to compare these parameters among CSVT subgroups with and without haemorrhage, as well as with and without papilledema. Furthermore, the investigation also aimed to identify which parameters had a more significant impact on the risk of hemorrhage and the development of papilledema in CSVT. MethodsThromboinflammatory parameters were compared retrospectively between the CSVT group of 88 patients and 80 age- and sex-matched healthy controls, and in the CSVT subgroups with (n = 35) /without hemorrhage (n = 53) and with (n = 52) /without papilledema (n = 36) after ethics committee approval. In both groups, parameters contributing to the risk of hemorrhage and papilledema development were determined by univariate and multivariate analyses. ResultsRegarding the risk of hemorrhage in CSVT patients, the most significant factors included hematocrit of <30.2 (%), mean platelet volume of ≤8.9 fL, neutrophil count of >5600, and hsCRP of >9 mg/L. Regarding the risk of papilledema development, the most important risk factors were age of ≤49, presence of vomiting, presence of blurred vision, HDL of >47 mg/dL, and D-dimer of >178 ng/mL. ConclusionIt was suggested that evaluating serum thromboinflammatory parameters, as well as demographic characteristics and neurological examination findings, had a critical role regarding prognosis and predictive factors in CSVT.