Pakistan Journal of Neurological Sciences

The Field of Interventional Neurology (IN) in Pakistan: Scope and Challenges

2025-07-06T10:00:41+00:00

Ocrelizumab in Multiple Sclerosis: Real-world Experience from Balochistan, Pakistan

2025-07-06T10:00:30+00:00

Background and Objective:

Multiple sclerosis (MS) is an autoimmune demyelinating disorder affecting the central nervous system. Ocrelizumab, a disease-modifying drug for MS, is funded by Bait ul Maal Pakistan for economically disadvantaged patients in Balochistan. The objective of this study was to evaluate the treatment response of Ocrelizumab in our population.

Methods:

This prospective observational study enrolled 22 patients from three tertiary care hospitals in Balochistan from July 2021 to June 2022. Patients aged 18–50 years diagnosed with MS and without contraindications for Ocrelizumab were included. The Expanded Disability Status Scale (EDSS) was calculated at baseline and at three, six, and 12 months. Patient satisfaction was assessed using a Likert scale (1 = extremely unsatisfied, 5 = extremely satisfied). Primary outcome was EDSS improvement; secondary outcomes included patient and family satisfaction.

Results:

Of 22 patients, 14 were female and 8 were male, with a mean age of 33.23 ± 9.75 years. RRMS was most common (81%; n=18), followed by primary progressive MS (14%; n=3). Median EDSS improved from 5.36 ± 2.50 at baseline to 3.37 ± 2.98 at follow-up. Major improvement was seen in 20% of patients, mild improvement in 50%, and no change/worsening in 30%. Patient and family satisfaction scores were 3.14 ± 1.42 and 3.10 ± 1.30, respectively.

Conclusion:

Ocrelizumab is an effective, safe, and acceptable treatment for MS patients in our population. EDSS scores improved significantly from 5.36 to 3.37 at the end of the follow-up period. Both patient and family satisfaction rates were high, indicating positive real-life experiences with the treatment.

Treatment and Outcome of Non-convulsive Status Epilepticus in Children: A Cross-sectional Study

2025-07-06T10:00:32+00:00

Background and Objective:

Incidence and prevalence of non-convulsive status epilepticus is difficult to know, especially in developing countries where access to diagnostic tools like EEG is limited. The objective of this study was to determine the treatment and outcome of non-convulsive status epilepticus in children.

Methods:

A total of 38 children were included in this prospective cross-sectional study, having EEG suggestive of non-convulsive status epilepticus. Response of the treatment given was measured by doing EEG after treatment to see resolution of non-convulsive status and improvement in clinical features too. Outcome was also accessed in terms of morbidity and mortality. The collected data were analyzed using SPSS version 20.

Results:

There were 38 patients studied who presented with NCSE .There was male predominance and most of the children presented between 2-5 years of age (n=15).These children were treated with multiple antiepileptic drugs . Majority of the patients had NCSE for more than 72 hours(n=24). There were 23 children who partially recovered from NCSE based on EEG findings while 15 got fully recovered and had less morbidity with p value of < 0.000 .In terms of morbidity and mortality a major chunk had no morbidity (n=16). Treatment and EEG based outcome were inversely proportional to each other. Duration of NCSE had great impact on EEG based outcome plus morbidity and mortality. The greater the duration , the more the morbidity with significant p value of < 0.0020 .

Conclusion:

Non-convulsive status epilepticus needs prompt diagnosis and treatment, as early intervention improves the prognosis in terms of morbidity and mortality.

Causes and Presentations of Bilateral Thalamic Lesions: A Retrospective Cross-sectional Study from a Tertiary Care Hospital

2025-07-06T10:00:34+00:00

Background and Objective:
Bilateral thalamic lesions present a significant diagnostic and therapeutic challenge due to their critical role in sensory, motor, and cognitive functions. The objective of this study was to study the causes and presentations of bilateral thalamic lesions among patients presenting to a tertiary care hospital.

Methods:
This retrospective study reviewed 40 patients aged 18–80 years admitted to Aga Khan University Hospital between 2006 and 2023 with MRI-confirmed bilateral thalamic lesions. Data collected included demographics, clinical presentations, radiological findings, and final diagnoses. The data was analyzed through SPSS 22.0.

Results:
Of the 40 cases analyzed, the most common etiology was Artery of Percheron (AOP) infarction (27.5%), followed by Wernicke’s encephalopathy (20%), Carbon monoxide poisoning (15%), lymphoma (12.5%), Fahr disease (12.5%), Cerebral Venous Sinus Thrombosis (7.5%), and Wilson’s disease (5%). Clinical presentations included altered levels of consciousness, seizures, headache, and vertigo, with MRI revealing distinct patterns for each condition.

Conclusion:
Bilateral thalamic lesions encompass a wide range of etiologies, each influencing management and prognosis differently. This study underscores the need for precise radiological evaluation and clinical correlation to guide effective treatment strategies.

Evaluation of Body Mass Index (BMI): A Risk Factor for Stroke among Pakistani Youth

2025-07-06T10:00:37+00:00

Background and Objective:

Body Mass Index (BMI) has been recognized as a significant risk factor for stroke, especially among younger populations in South Asia. Rising obesity rates contribute to non-communicable diseases, with increased stroke incidences being observed in younger adults. The objective of this study was to assess BMI distribution among Pakistani youth across various educational levels, providing insight into obesity trends and potential health risks.

Methods:

This cross-sectional study was conducted through an online platform, surveying 2,223 respondents across 38 cities in Pakistan. A semi-structured questionnaire was administered, covering 600 educational institutions. Participants were categorized by BMI using WHO standards: underweight (<18.5 kg/m²), normal (18.5–24.9 kg/m²), overweight (25–29.9 kg/m²), obese (≥30 kg/m²), and extremely obese (≥35 kg/m²). Data collected included participant age, gender, educational level, and institution type, ensuring anonymity and statistical analysis.

Results:

Among respondents, 33% were enrolled in Master’s programs, 57% were male, and 62% attended public institutions. Notably, 27% of participants had a BMI above 24.9, with a higher prevalence among females. Age analysis revealed an increase in overweight and obesity rates in older groups: 23% in ages 19-24 and 31% in ages 25-28. Educational analysis indicated that obesity rates increased with higher education levels, reaching 30% among postgraduate students.

Conclusion:

This study reveals a concerning trend of high BMI levels among Pakistani youth, especially at higher education levels, highlighting the need for targeted public health interventions to address obesity and related risks of stroke and other diseases.

Gender Differences in Risk Factor Profiles and Predictors of Poor Outcomes among Acute Stroke Patients: A Pilot Study from Egypt

2025-07-06T10:00:36+00:00

Background and Objective:

Stroke remains a leading cause of mortality and long-term disability worldwide, with significant socioeconomic implications. This study aimed to investigate gender-based differences in acute stroke patients regarding baseline characteristics, clinical presentation, and predictors of poor outcome in an Egyptian population.

Methods:

We prospectively recruited 116 acute stroke patients admitted to the stroke unit at Cairo University Hospitals from January to June 2020. Detailed data on demographics, clinical characteristics, diagnostic workup, hospital course, and functional outcomes were collected. Poor outcome was defined as a modified Rankin Scale (mRS) ≥ 3 at discharge. Data were analyzed using SPSS version 28 (IBM Corp., Armonk, NY, USA).

Results:

The study included 60 males (51.7%) and 56 females (48.3%) with a median age of 62 years. Atrial fibrillation (32.1% vs 15%, p = 0.029) and obesity (80.3% vs 66.7%, p = 0.010) were more common in females, while smoking history was more common in males (70% vs 7.1%, p < 0.001). Females had higher levels of total cholesterol (median 238 vs 189 mg/dL, p = 0.007) and triglycerides (median 160 vs 141 mg/dL, p = 0.026). Using regression analysis, dysphagia remained an independent predictor of poor outcome in both females (OR : 23.4, 95% CI : 2.521-217.2, p=0.006) and males (OR : 15.769, 95% CI : 1.686-147.509, p=0.016).

Conclusion:

This pilot study highlights important gender differences in stroke charachteristics and emphasizes the need for a wide-scale stroke registry in Egypt. The strong association between dysphagia and poor outcomes in both genders highlights the importance of early dysphagia screening and management in acute stroke care.

Neurocognitive Outcome Following Tuberculous Meningitis Treatment : A Systematic Review

2025-07-06T10:00:39+00:00

Background and objective:

Tuberculous meningitis (TBM) is an infectious disease of the central nervous system that remains to be a global health challenge. Patients who survive after experiencing TBM have a risk of developing functional, cognitive and psychological disorders that can affect daily activities. The objective of this study is to present a comprehensive review of data on cognitive outcome after TBM infection.

Method:

We conducted a systematic literature search to identify studies addressing cognitive outcomes in adult TBM patients. Following a systematic literature search (PubMed, Scopus, EBSCO), studies were reviewed by independent reviewers to assess eligibility for inclusion. Three independent reviewers extracted data from included studies.

Result:

Among the articles identified, 6 studies met inclusion criteria, reporting cognitive outcomes for 330 patients with TBM. All studies followed the patients for 12 months or more. Three studies used Mini-Mental State Examinations (MMSE) to assess cognitive function, while other studies used a variety of tools: HIV-associated neurocognitive disorder (HAND), Montreal Cognitive Assessment (MoCA), neuropsychological (NEUROPSI), and Wechsler Adult Intelligence Scale (WAIS). All studies reported an improvement in cognitive function after completion of TB therapy. Two studies compared TBM with HIV, and showed TBM patients with HIV had worse cognitive outcomes than those without HIV.

Conclusion:

Cognitive function assessment tools in TBM patients are diverse and after approximately 12 months of follow-up following TB therapy, there was improvement in cognitive function. Standardized reporting of cognitive outcomes will be essential to improve data quality and data-sharing potential.

Video Gaming Addiction in Pakistani Adolescents: A Growing Concern

2025-07-06T10:00:50+00:00

Background and Objectives:

Video game addiction, or gaming disorder, is marked by impaired control over gaming, prioritizing gaming over other activities, and continuing despite negative consequences. This can lead to psychological, social, and occupational impairments. Despite its high prevalence among adolescents, research in Pakistan is limited. This review aims to compare international research on video game addiction and raise awareness about its impact on Pakistani adolescents.

Methods:

Using the PubMed, Google Scholar, and Cochrane databases, a thorough literature search was carried out to find research on video game addiction among teenagers in Pakistan, the USA, Canada, India, and China, aged 13 to 18. One-hundred-fifty-seven articles were found after narrowing the search to include symptoms, diagnosis, and available treatments. Using filters, research on teenagers and the pertinent psychological, social, or physical effects of gaming disorders that were published between 2014 and 2024 and had free full-text availability were included. Fifty papers were shortlisted after inclusion and exclusion criteria were applied. Additional screening made this list smaller, resulting in 26 articles. These publications were then examined for trends in gaming disorder symptoms, diagnosis, and treatment suggestions, with an emphasis on Pakistani teenagers.

Results:

The review highlighted a significant lack of research regarding Pakistani adolescent gamers. Existing studies focused on older youth, leaving a gap in understanding younger adolescents' gaming behaviors and addiction patterns. Internationally, studies revealed associations between gaming addiction and mental health issues such as anxiety, depression, and sleep disturbances. In Pakistan, studies showed high prevalence rates of Internet Gaming Disorder (IGD) among adolescents, significantly impacting their mental and physical health. Similar trends were observed in China, Canada, and India.

Conclusion:

There is a critical need for research on gaming addiction among Pakistani adolescents. The findings underscore the necessity for targeted interventions and support structures. Future research should focus on longitudinal studies to better understand addiction patterns and cultural influences on gaming behavior.

A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome

2025-07-06T10:00:43+00:00

Neurocutaneous syndromes comprise a diverse group of conditions affecting both the nervous system and the integumentary system. Within this spectrum, we present a rare and compelling case of cerebrum polycystica vera associated with ectodermal dysplasia in a 30-year-old male. The patient's clinical journey includes a sequence of seizures progressing to left-sided weakness, accompanied by compelling dermatological manifestations. Extensive neuroimaging studies, including MRI and CT scans, reveal the presence of multiple cysts in the brain, highlighting the distinct nature of this novel neurocutaneous syndrome. Based on the authors’ knowledge, this represents the first documented case report from Pakistan, while a few cases have been documented in international publications.

A Case of Charcot-Marie-Tooth Disease Type 2O (CMT2O) Associated with DYNC1H1 and SLC12A6 Mutations

2025-07-06T10:00:47+00:00

Charcot-Marie-Tooth disease (CMT) comprises of a variety of hereditary diseases affecting the peripheral nervous system. CMT2 is a subgroup caused by defects in the axon of the peripheral nerve cells. CMT2O is an uncommon type that affects less than one in a million people and is linked to specific genetic abnormalities. We report a case study of a 66-year-old individual with CMT2O, diagnosed on clinical presentation and identified through genetic analysis. Electromyography and nerve conduction studies supported the diagnosis of an axonal sensorineural neuropathy. A comprehensive genetic neuropathies panel led to the identification of mutations in SLC12A6 and DYNC1H1 gene. This case adds to our growing understanding of CMT2O and paves the path for new therapeutic options targeting specific genetic abnormalities, providing hope for improved patient management approaches in the future.

Hurdles in Diagnosis of Familial Amyotrophic Lateral Sclerosis with Anticipation Catastrophe across Three Generations: A Case Report

2025-07-06T10:00:45+00:00

Familial amyotrophic lateral sclerosis (F-ALS), a rare hereditary variant of ALS, is characterized by a genetic predisposition to the disease. In this case report, we reveal a compelling instance of F-ALS within a three-generation family, involving a grandfather, son, and grandson, all manifesting early-onset symptoms and progressive upper and lower motor neuron findings. The clinical diagnosis was confirmed through electromyography fulfilling El Escorial criteria of ALS. Our investigation highlights the familial connection in this case, emphasizing the hereditary aspect of ALS. This report underscores the significance of considering familial ALS in cases of successive generational involvement with early onset, a phenomenon called anticipation, shedding light on the necessity for further research to unravel the genetic basis by mutation analysis, which may have implications for future treatment.

Rare Presentation of Central Nervous System Tuberculosis with Bilateral Anterior Cerebral Artery Aneurysm: A Case Report

2025-07-06T10:00:48+00:00

Central Nervous System tuberculosis (CNS TB) with intracranial aneurysms is rare and needs prompt diagnosis and early management. The presence of un-ruptured or ruptured aneurysms in the presence of CNS infection is difficult to treat in both acute settings and long-term management because of possible complications prevention. A female of 70 years of age presented with a history of fever, headache, vomiting, and altered sensorium for one week with GCS of 13/15, later developing paraparesis. She was diagnosed to have CNS tuberculosis with complicating bilateral anterior communicating artery (ACA) aneurysms. She was managed conservatively in our hospital and was referred for endovascular neurosurgical intervention for the aneurysms to another center because of non-availability in our setup. CNS infection with intracranial aneurysms is difficult to manage and such a combination of vascular complications of tuberculous meningitis must be kept in mind while dealing with such scenarios but carries a good prognosis if diagnosed and managed as early as possible to avoid complications.

Recurrent Intraosseous Myxoma: A Case Report

2025-07-06T10:00:52+00:00

Myxomas are rare, benign but locally aggressive neoplasms that are of mesenchymal origin. These tumors are usually diagnosed only when they have grown enough to cause symptoms because of their indolent nature, hence imaging plays a large role in the diagnosis of these tumors. Imaging findings may include well-circumscribed multinodular masses with destruction of adjacent bony structures. Treatment of these tumors is complete resection and close follow up. Early recognition with physical examination and imaging studies, close follow up and multidisciplinary treatment are needed to achieve the best results for patients. We present a 34-year-old male who presented with proptosis and diplopia as part of a recurrent intraosseous myxoma three months after craniotomy for tumor excision.