Clinical and radiological profile of neuromyelitis optica spectrum disorders in a Pakistani cohort.

BACKGROUND: The clinical and radiological characteristics of neuromyelitis optica spectrum disorder (NMOSD) from Pakistan is unknown. Our study aimed to describe the clinical and radiological features of NMOSD patients presenting to a Pakistani tertiary care center. MATERIALS AND METHODS: This retrospective, observational study was conducted at the Neurology Department, Pakistan Institute of Medical Sciences between January 2017 and September 2021 (56 months). The study included patients diagnosed with neuromyelitis optica spectrum disorder (NMOSD) according to the 2015 International Panel for NMO Diagnosis (IPND) criteria, with the exclusion of patients under 12 years of age and those who tested positive for Myelin oligodendrocyte glycoprotein (MOG) IgG antibody. The patients were divided into two groups based on clinical presentation and the presence of NMO-IgG antibodies: NMO-IgG positive NMO (Seropositive NMO) and NMO-IgG negative (Seronegative NMO). The clinical features of NMOSD were recorded, and data was analyzed using SPSS version 26.0. RESULTS: Among 204 patients with suspected demyelination, multiple sclerosis was diagnosed in 100 individuals (49.02%), while acute disseminated encephalomyelitis (ADEM), clinically isolated syndrome (CIS), and neuromyelitis optica (NMO) were found in 5 patients each (2.45%, 2.45%, and 17.65%, respectively). Out of 36 patients with NMO, 32 (88.89%) tested positive for NMO-Ab, while the remaining 4 (11.11%) were seronegative for both NMO and anti-MOG Abs. The mean age of NMO-positive patients who tested positive for NMO antibodies was 31.03±10.12 years, compared to 27.95±2.5 years for NMO-negative patients, though this difference was not statistically significant (p>0.05). Females were more commonly affected by NMO, accounting for 72.2% of the NMO-positive group, and there was a significant difference in clinical phenotypes between the two groups (p<0.05). The NMO-positive group predominantly had relapsing NMO presentation (75%), and 72.8% of these patients showed longitudinally extensive transverse myelitis on the MRI spine. Azathioprine was the most frequently administered treatment for positive NMO patients (69.44%), followed by rituximab and MMF. The follow-up period for the study participants lasted 24 months. CONCLUSION: This is the first study on NMOSD cases in Pakistan. According to the present study, NMOSD is most prevalent among women in their forties. Relapsing NMO was the most common form of presentation. 89% of patients had antibodies against AQP4. 72.8% of patients suffered from LETM during the course of their disease. There are some features of our NMOSD cases that appear comparable with those around the world, despite some limitations in testing and access to care. It is clear that the clinical and radiological spectrums of patients with NMO and NMOSD in this cohort are similar. It is reasonable to suspect NMO if demyelinating episodes are not characteristic of MS.

A Case of Neuromyelitis Optica with Systemic Lupus Erythematosus.

Neuromyelitis Optica (NMO) is a rare idiopathic autoimmune demyelinating disease of the central nervous system (CNS) having a relapsing course. It consists of optic neuritis, longitudinally extensive transverse myelitis (LETM) which involves 3 or more neighbouring portions of the spine and positive serology for anti-NMO IgG antibodies. NMO is often misdiagnosed as multiple sclerosis (MS). Limited literature about NMO and its association with other systemic autoimmune diseases, such as systemic lupus erythematosus (SLE) is available so far. Here, we present a 21-year girl, previously diagnosed case of SLE seven years back, who suffered attacks of transverse myelitis. She had seropositivity for anti-aquaporin-4 (anti-AQP4) receptor antibody. An accurate clinical diagnosis is important to initiate timely immunosuppressive therapy to prevent disability. Key Words: Neuromyelitis Optica, Transverse myelitis, Systemic lupus erythematosus.

Lafora Body Epilepsy: A Challenging Diagnosis.

Lafora body disease (LBD) is a progressive myoclonic genetic epilepsy syndrome characterized by the presence of Lafora inclusion bodies within neurons and other cells. It is a complex neurodegenerative disease presenting in adolescence with seizures, myoclonus, and rapid cognitive decline. Diagnosis is often challenging requiring a thorough history including family history, identification of Lafora bodies in apocrine sweat glands of axillary skin, and specific DNA sequencing. There is no cure and management is mainly supportive. We present one of the only few cases from Pakistan of LBD based on characteristic biopsy findings, history of similar ailment in siblings, and EPM2B mutation. This case emphasizes the need for physicians and neurologists to be aware of diagnostic challenges associated with LBD and its characteristic findings. Key Words: Lafora body, Progressive epilepsy, Myoclonus, Axillary skin biopsy, EPM2B.

Neurological complications of SARS-CoV-2: A single-center case series authors.

The neurological manifestations of SARS-CoV-2 are wide-ranging from simple headache to severe demyelinating brain disease. This is a review of collected case reports of patients with SARS-CoV-2 with neurological manifestations presenting to the Pakistan Institute of Medical Sciences (PIMS). Neurological manifestations associated with SARS-CoV-2 such as encephalitis, acute cerebrovascular disease, encephalitis with chorea, post-COVID myositis and Guillain-Barré Syndrome (GBS) are of great concern but are often overlooked in the presence of life-threatening abnormal vital signs in severely ill SARS-CoV-2 patients. There is a need to diagnose these manifestations at the earliest opportunity to limit long-term consequences and complications. Much research is needed to explore the role of SARS-CoV-2 in causing these neurological manifestations by isolating it either from the cerebrospinal fluid (CSF) or the brain tissue of the deceased on autopsy. We also recommend exploring the risk factors that lead to the development of these neurological manifestations.

SARS-CoV-2 infection with pneumonia and encephalitis.

The pandemic of severe acute respiratory virus (SARS-CoV-2) is characterized by respiratory symptoms with serious consequences, mainly associated with pneumonia and extreme ARDS. There is a lack of data about specific neurological manifestations of covid-19 infections literature. Epidemiological trials in fewer than 30% of a population reported symptoms of headache and delirium (Helms et al., 2020). Covid-19's neurotropism is still debatable, uncertain and in the present case study patient with Covid-19 is identified. He suffered with extreme respiratory complications during hospitalization and eventually died.

Recognizing Movement Disorder Emergencies - A Practical Review For Non-Neurologist.

Neurology still remains one of the most underserved specialties of medicine in Pakistan with roughly one neurologist per million people. Movement disorders (MD) are neurological problems that interfere with patient's motor abilities and diagnosis is typically clinical. In this review, we describe a practical approach to common MD emergencies that may be encountered by a non-neurologist physician, emphasizing on formulating a working diagnosis and their immediate management. Movement disorder emergencies can be classified based on MD phenomenology and we will provide a brief overview of dystonia including acute dystonic reaction, PAID syndrome and dystonic storm; chorea, myoclonus including serotonin syndrome and startle disease; and rigidity including neuroleptic malignant syndrome and malignant hyperthermia.

Coexistent Mitral Stenosis and Multiple Sclerosis: An Unprecedented Case.

Mitral stenosis is a valvular heart disease characterised by narrowing of mitral orifice. It can lead to a dilated left atrium with atrial fibrillation culminating into thrombus formation. Patients with mitral stenosis, presenting with stroke-like episodes, most likely experience cardio-embolic phenomenon; but unusual and unprecedented associations do occur. Reported association of cardiac MS with demyelinating CNS MS has never been proven; but authors have speculated theories based on case reports and series. We narrate the case of a 28-year gentleman known to have severe mitral stenosis, who presented with history of multiple stroke-like episodes. During each episode, he had CT brain done and was labelled as having recurrent embolic strokes. We investigated in detail, and the patient was found to have classical MRI features and CSF findings of multiple sclerosis with multiple lacunar infarcts, warranting different line of treatment in addition to cardio-embolic strokes.

Posterior reversible encephalopathy syndrome (PRES) as a complication of Guillain-Barre' syndrome (GBS).

A 17-year-old Pakistani female patient presented with acute onset flaccid quadriparesis with nerve conduction studies showing demyelinating polyneuropathy consistent with Guillain-Barre' syndrome. She was treated with 4 plasmapheresis sessions. She developed raised blood pressure, headache, visual loss and generalised seizures on the 13th day of admission. MRI of the brain on contrast showed findings of altered signals low on T1-weighted image, high on T2-weighted image and fluid-attenuated inversion recovery in the white matter of bilateral occipital, parietal and right frontal lobe consistent with posterior reversible encephalopathy syndrome. The patient was administered antiepileptic and antihypertensive drugs to control seizures and blood pressure. She was discharged in a stable state. On follow-up her visual loss had recovered completely and she had regained full motor strength in all four extremities after 6 weeks. Fresh MRI of the brain revealed complete resolution of lesions. Antihypertensive and antiepileptic medication was discontinued. She is independent in all her daily activities.

High HbA1c is associated with higher risk of ischaemic stroke in Pakistani population without diabetes.

CONTEXT: The role of glycated haemoglobin (HbA1c) in the prediction of ischaemic stroke in individuals without diabetes is underestimated. AIMS: We performed a study to analyse the role of HbA1c in the risk prediction of ischaemic stroke in Pakistani population without diabetes. We further studied the difference between HbA1c values of individuals with diabetes and without diabetes with stroke. SETTINGS AND DESIGN: Single centre, case-control. MATERIALS AND METHODS: In phase I, a total of 233 patients without diabetes with ischaemic stroke and 245 as controls were enrolled. Association of HbA1c levels, lipid profiles and blood pressure recordings with ischaemic stroke was analysed. In phase II, comparison was done between diabetics and non-diabetics with stroke. STATISTICAL ANALYSIS: Comparison of the mean variables was performed with Student's t-tests. Logistic regression analysis with ischaemic stroke as the dependent variable was performed for phase I. RESULTS: In phase I, the ischaemic stroke group had significantly higher HbA1c levels (5.9±2.9% vs 5.5±1.6%) compared with controls (p<0.05). Triglyceride cholesterol, high-density lipoprotein cholesterol, systolic blood pressure, diastolic blood pressure and HbA1c were the significant determinants of stroke (p<0.05). In phase II, mean HbA1c values were significantly higher in the diabetes group (7.6±2.1 vs 6.1±2.3) (p<0.05) but other parameters were not statistically significantly different (p>0.05). CONCLUSIONS: Higher HbA1c indicated a significantly increased risk for ischaemic stroke. An HbA1c value above 5.6% (prediabetic range) predicted future risk of stroke and efforts to maintain glucose level within the normal range (≤5.6%) in individuals with high cardiovascular risk are important.

Subarachnoid hemorrhage secondary to forceful sneeze.

Subarachnoid hemorrhage (SAH) is a relatively less common but important neurological condition comprising 5% of all the cerebrovascular accidents. In most populations the reported incidence is 6-7 per 100,000 person-years and one-third of survivors become dependent. It is a serious but potentially treatable cause of neurological morbidity. Multiple authors have identified the most unusual novel associations and triggers of subarachnoid bleeds over the past decade. We herein report a rare case of subarachnoid hemorrhage leading to focal neurological deficit in a middle aged man secondary to forceful sneeze.