Neurology Commons^™

Succinic Semialdehyde Dehydrogenase Deficiency – A Rare Cause Of Metabolic Stroke, Areeba Wasim, Javeria Raza Alvi, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder characterized by defective degradation of gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter of the brain. Children with SSADH deficiency present with motor and mental delay, intractable seizures, infantile onset hypotonia, speech disturbances, extrapyramidal symptoms and ataxia. This wide spectrum results from increased accumulation of 4hydroxy butyric acid (4HBA) leading to down regulation of GABA receptors, which likely explain epileptogenesis but the pathophysiology of stroke in SSADH deficiency is not much elucidated. Here, we report an infant aged 11 months, product of consanguineous marriage with significant family history of motor delay …

Risk Factors Of Intracerebral Hemorrhage – A Cross Sectional Study, Mir Jalal-Ud-Din, Raheel Jehangir Jadoon, Syed Affan Ali, Samia Wazir Khawaja, Zahid Gul Jadoon, Ibtisam .

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Stroke is the major cause of disability and one of the top causes of death in the globe. Though the rate is decreasing in the West, it is most likely growing in Asia. In Pakistan, the burden of stroke risk factors is substantial. Although data on the incidence and prevalence of stroke in Pakistan is limited, there are several published case studies demonstrating major disparities in stroke epidemiology, risk factors, kinds, and patterns. This study aims to identify risk factors of intracerebral hemorrhage among patients presenting to a teaching hospital. Methods: From August 2019 to February …

Prevalence Of Depression In Caregivers Of Stroke Patients In Karachi, Pakistan, Marium Mansoor, Shahina Pirani, Rabeeka Aftab, Tania Nadeem

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Caregivers of patients with chronic debilitating illnesses are at risk of developing mental health problems. The objective of this study is to determine the frequency of depression in caregivers of stroke patients at a tertiary care teaching hospital in Karachi, Pakistan. Methods: A cross-sectional study was conducted among caregivers of stroke, who were recruited from the Aga Khan University Hospital between January 2018 to October 2018. Data was collected through the Urdu Hamilton rating scale for depression (HAM-D-U) and it was analyzed using descriptive and inferential statistics. Results: A total of 136 caregivers participated in the …

Post Covid-19 Vaccine Guillain Barre Syndrome, Soban Khan, Maryam Khalil, Zaid Waqar, Sajid Khan, Zakir Jan

Pakistan Journal of Neurological Sciences (PJNS)

The Guillain Barre Syndrome (GBS) is an acute immune-mediated progressive polyneuropathy having an acute monophasic illness leading to paralysis. The clinical features are progressive ascending symmetrical muscle weakness that may lead to respiratory failure. Diagnosis is based upon clinical presentation and is supported by a lumbar puncture with CSF analysis demonstrating albumin-cytological dissociation, and electrophysiological studies. Our patient presented to us with progressive ascending paralysis after receiving COVID 19 vaccine.

Molecular Analyses Of Phenylketonuria In The Intellectually Disabled Children From Faisalabad, Punjab, Pakistan, Habiba Hussain, Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Fazli Rabbi Awan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Phenylketonuria (PKU) is a rare inherited metabolic disorder, caused by mutations in the phenylalanine hydroxylase (PAH). It is a treatable disorder if diagnosed earlier in life. The objective was to identify PKU patient(s) amongst the intellectually disabled children. Methods: Blood samples (n=100) were collected from intellectually disabled children from Faisalabad, Pakistan. Screening was performed on plasma samples through High Performance Liquid Chromatography (HPLC), and DNA samples were examined for mutation analysis of PAH through direct PCR and SSCP analyses. Results: In the current study, 85% consanguinity rate was observed, with the average BMI (16.15 kg/m2) and …

Making The Case For The Accelerated Withdrawal Of Aducanumab, Peter J. Whitehouse

Faculty Scholarship

U.S. Food and Drug Administration-s (FDA) approval of aducanumab (Aduhelm® in the US) as a treatment for mild cognitive impairment of the Alzheimer type and Alzheimer-s disease has raised such major concerns about efficacy, safety, FDA processes, and regulatory capture that Biogen-s license to market this biologic should be immediately withdrawn. Aducanumab has not demonstrated benefit to patients, failed to meet regulatory guidelines, and is likely to cause both individual and societal harm.

Efficacy Of Cenobamate For Uncontrolled Focal Seizures In Patients With Previous Epilepsy-Related Surgery: Post Hoc Analysis Of A Phase 3, Multicenter, Open-Label Study, Bassel Abou-Khalil, Sami Aboumatar, Pavel Klein, Gregory L Krauss, Michael R Sperling, William E Rosenfeld

Department of Neurology Faculty Papers

Objective: This post hoc analysis of 10 US study sites from a long-term open-label phase 3 study of adjunctive cenobamate evaluated the efficacy of cenobamate in patients with prior epilepsy-related surgery.

Methods: Patients with uncontrolled focal seizures despite taking stable doses of 1-3 concomitant antiseizure medications (ASMs) received increasing doses of cenobamate (12.5, 25, 50, 100, 150, 200 mg/day) at 2-week intervals over 12 weeks (target dose, 200 mg/day). Further increases up to 400 mg/day using biweekly 50-mg/day increments were allowed during the maintenance phase. Dose adjustments of cenobamate and concomitant ASMs were allowed. Data were assessed until the last …

Functional (Psychogenic) Seizures Are Associated With Thyroid Disorders, Ali A. Asadi-Pooya, Mohsen Farazdaghi

Department of Neurology Faculty Papers

Objective: We investigated medical comorbidities in patients with functional seizures (FS) and those with epilepsy (idiopathic generalized epilepsies [IGEs] or temporal lobe epilepsy [TLE]). We hypothesized that the nature of medical comorbidities differs between these three groups. This might be helpful to postulate on the pathophysiology of FS. Materials and Methods: In a retrospective study, all adult patients with a diagnosis of IGE, TLE, or FS were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Iran, from 2008 until 2020. The three groups of patients were matched with regard to their age. Age, sex, and medical …

A Rare Case Of Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy, A Dearden, J Doty, A Krishnan, J Fellows

Conference Presentation Abstracts

Purpose This is a 69-year-old male who presented with cognitive decline, hypophonia, dyspraxia, course tremor, myoclonic jerks, and gait dysfunction, all developing over 3-4 weeks. Initial head CT and MRI brain without contrast were negative. EEG demonstrated diffuse slowing. CSF analysis revealed elevated protein and elevated white blood cells (lymphocyte predominant). Given neurological worsening, MRI brain and cervical spine with contrast were performed and unique findings were identified, detailed below. The CSF autoimmune panel returned positive for Glial Fibrillary Acidic Protein (GFAP). The patient was started on steroids with rapid clinical improvement. Materials and Methods MRI brain with contrast 2 …

9-Month Course Of Refractory Anti-Nmda Receptor Encephalitis With Initial Negative Markers: Diagnostic And Therapeutic Challenges, Camilla Cascardo, Alexander Ismail, Francisco Davila, Nicole Marijanovich

Conference Presentation Abstracts

Anti-NMDA receptor encephalitis is a progressively debilitating, clinically heterogeneous, frequently fatal disease caused by autoantibodies directed against the N-methyl-D-aspartate receptor that affects 1 in 1.5 million people each year. Risk of misdiagnosis or delayed treatment is high due to variable presentations and potential false negative results.

A Preliminary Report: The Hippocampus And Surrounding Temporal Cortex Of Patients With Schizophrenia Have Impaired Blood-Brain Barrier, Eric L. Goldwaser, Randel L. Swanson, Edgardo J. Arroyo, Venkat Venkataraman, Mary C. Kosciuk, Robert G. Nagele, L. Elliot Hong, Nimish K. Acharya

Stratford Campus Research Day

Schizophrenia (SZ) is one of the most severe forms of mental illness, yet mechanisms remain unclear. A widely established brain finding in SZ is hippocampal atrophy, and a coherent explanation similarly is lacking. Epidemiological evidence suggests increased cerebrovascular and cardiovascular complications in SZ independent of lifestyle and medication, pointing to disease-specific pathology. Endothelial cell contributions to blood-brain barrier (BBB) compromise may influence neurovascular unit and peripheral vascular function, and we hypothesize that downstream functional and structural abnormalities may be explained by impaired BBB.

Case Report: Glioblastoma Tumor Presenting With Mild Changes In Memory, Samuel Thalathoti, Nicholas Palladino, James Espinosa, Alan Lucerna

Stratford Campus Research Day

We report a case of a 66-year-old female who presented to the ED with generalized headache and mild confusion, who was diagnosed with high-grade glial neoplasm. The differential diagnosis of headache is vast, but without red flags or symptoms is generally from a benign cause and easily treatable. However, even in the context of a normal neurologic physical exam, symptoms such as confusion, forgetfulness, and behavioral changes should merit imaging in the workup. Glioblastoma is the most common brain tumor, accounting for 47.7% of all cases, with an incidence of 3.21 per 100,000 population. Median age of diagnosis is 64 …

A Puzzling Case Of Normal Pressure Hydrocephalus In The Outpatient Setting, Shadi Shams, Asim Shafique, Marym Khan, James Bailey

Stratford Campus Research Day

Normal Pressure Hydrocephalus (NPH) is a disease of adulthood characterized by the triad of gait disturbance, dementia, and urinary incontinence. Since NPH shares a lot of characteristics with other disorders including neurodegenerative disorders and degenerative-dystrophic spine, it is usually underdiagnosed and undertreated. Combination of ventriculomegaly seen on a computerized tomography (CT) scan or magnetic resonance imaging (MRI) with clinical findings could be used in diagnosis of NPH. However, improvement of symptoms post spinal tap procedure would be a better indication of diagnosis. Currently, shunt placement is the best available modality of treatment for NPH. Here we present a case of …

Plasmalogen Deficiency: A Risk Factor For Dementias And Potential Treatment Target, Mitchel A. Kling, Mallika Mendu, Rima F. Kaddurah-Daouk, Sheldon Jordan, Dayan B. Goodenowe

Stratford Campus Research Day

Altered lipid metabolism is implicated in the risk of sporadic Alzheimer’s disease (AD) and related dementias (ADRD); however, the precise mechanisms accounting for findings from observational studies remains to be fully elucidated.

Plasmalogens are a subclass of integral membrane phospholipids with unique properties that appear to play important roles relevant to the pathophysiology of AD and ADRD, including vesicle fusion necessary for synaptic neurotransmitter release, modulation of membrane fluidity and microdomain dynamics, membrane antioxidant functions, and neuroprotection. Like the more familiar phosphatides, plasmalogens are synthesized on a 3-carbon glycerol backbone; however, they differ from phosphatides by the presence of a …

A Case Of Akinetic Mutism In Patient With Unilateral Anterior Communicating Artery Stroke, David Ho, Or Shachar, James Espinosa, Alan Lucerna, James Lee

Stratford Campus Research Day

Akinetic mutism, a rare neurological condition involving sensory, motor, language, behavior, and emotional changes, mimicking locked-in syndrome, should be considered in acute stroke patients presenting with speech deficits. This condition, although debilitating initially, does have prospects for recovery. In this case report, we present the case of a patient presenting to the ER for altered mental status, found to be in DKA, NSTEMI, suspected narcotic overdose, and unilateral acute ischemic stroke of the left anterior communicating artery (ACA), who was found to have Akinetic Mutism. In stroke patients presenting with aphasia and dysarthria, it is worth considering akinetic mutism in …

Stroke In Hfref Without Atrial Fibrillation And Concurrent Protein S Deficiency: What Is The Best Treatment?, Rohan Umrani, Trinava Roy, Bhavana Kadiyala, Yvette Wang

Stratford Campus Research Day

Hypercoagulable disorders are often the culprit for repeated strokes in young patients, with or without other comorbidities

Medications typically used for stroke prophylaxis:

• Warfarin
• Aspirin
• Direct Oral Anticoagulants (DOACs)

Warfarin is the preferred method of anticoagulation for stroke prophylaxis in patients with hypercoagulable disorders

A deficiency of protein S increases the risk of pro coagulation due to a relative deficiency of anticoagulants.

Patients with protein S deficiency tend to have recurrent venous thromboses and pulmonary emboli

A Case Of Intracranial Empyema After Bacterial Sinusitis, Eric Doane, Bhumi Shah, Robert Belfer

Stratford Campus Research Day

Acute sinusitis in the pediatric population is a common presentation in the emergency department. Most cases are viral and can be managed conservatively and will resolve spontaneously in 7-10 days. Even in cases of bacterial sinusitis, patients can typically be discharged with oral antibiotics and close follow up with the pediatrician.

There is however a small subset of patients who will develop a rare lethal complication, an intracranial empyema. While the incidence in the developed world has decreased as antibiotics become more available, it is still estimated to occur in up to 5% of severe cases requiring hospitalization (1) . …

A Case Of Acute Disseminated Encephalomyelitis In An Adult Male With Bipolar Disorder, Jinisha Patwa, Tracey Harris

Stratford Campus Research Day

Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating disease characterized by inflammation of the brain and spinal cord. The rapidly progressive inflammation in the central nervous system is known to occur in response to a prior infection or immunization.

The clinical signs of ADEM may manifest up to 60 days post illness or vaccination. Some develop encephalopathy and neurologic symptoms which include confusion, psychosis, and tetraparesis. Paresthesia of the limbs and muscular atrophy indicate a worse prognosis and higher risk of relapse as opposed to those with only CNS involvement. A predominantly psychiatric presentation is also possible.

Risk factors include …

Case Report: A Patient With Gait Dysfunction With Acute Inflammatory Demyelinating Polyneuropathy Masquerading As Diabetic Polyneuropathy, David Parkes, Russell Mordecai

Stratford Campus Research Day

New onset gait dysfunction often prompts admission to the hospital for further evaluation. The typical patient is an elderly person who normally is self-sufficient but had recently experienced a decline in their ability to care for themselves. Sometimes, however, those who present with gait dysfunction do not fit the expected demographic. These individuals raise concern for less common “zebra” presentations of neurological dysfunction. We describe one such rare case of a 39-year-old female with a new onset of type 2 diabetes mellitus and recent COVID-19 infection that presented to the emergency department with a sensation of bilateral lower extremity burning …

Charles Bonnet Syndrome: A Case Report, Christian Scouarnec, Martin M. Forsberg

Stratford Campus Research Day

Charles Bonnet syndrome (CBS) involves nonthreatening hallucinations in patients who have no neurological and no psychological abnormalities but with significant visual impairment secondary to ocular disease, such as macular degeneration, cataracts and diabetic retinopathy. When a patient loses vision, their visual system doesn’t process new images. Without data coming through the eyes, the brain fills the void and makes up images or recalls stored images for you to see and this is what causes the hallucinations in CBS.

Many physicians are unaware of CBS and its prevalence, and with proper detection, physicians can help treat their patients with a frequently …