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Full-Text Articles in Neurology

Electrographic Significance Of Periodic Discharges And Association With Etiology And Outcome In A Tertiary Care Hospital: A Retrospective Cohort Study, Hina Imtiaz, Zainab Memon, Ayisha Farooq Khan, Dureshahwar Kanwar, Safia Awan Dec 2024

Electrographic Significance Of Periodic Discharges And Association With Etiology And Outcome In A Tertiary Care Hospital: A Retrospective Cohort Study, Hina Imtiaz, Zainab Memon, Ayisha Farooq Khan, Dureshahwar Kanwar, Safia Awan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective

Periodic discharges on electroencephalograms (EEGs) are rhythmic waveforms that may indicate acute or subacute brain injury. This aim of this study was to determine the frequency distribution of periodic discharge subtypes on EEG and to assess their association with underlying etiologies and clinical outcomes in a tertiary care hospital.

Methods

This retrospective observational cohort study included neurological patients aged ≥18 years admitted to the medical ICU or ward of Aga Khan University Hospital between January 1, 2021, and January 1, 2023, with periodic discharges on EEG. Patients with prior traumatic brain injury were excluded. Data on demographics, …


Epilepsy In Pakistani Adolescents Amid The Vaping Epidemic, Maheen Kalwar, Eisha Tur Raazia, Harmain Naz Shaikh Dec 2024

Epilepsy In Pakistani Adolescents Amid The Vaping Epidemic, Maheen Kalwar, Eisha Tur Raazia, Harmain Naz Shaikh

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


New Onset Seizures Evolving Into Refractory Status Epilepticus In The Setting Of Covid-19: A Case Report, Mahira Mushtaq, Zuha Amin, Shafaq Saleem, Fowzia Siddiqui Dec 2024

New Onset Seizures Evolving Into Refractory Status Epilepticus In The Setting Of Covid-19: A Case Report, Mahira Mushtaq, Zuha Amin, Shafaq Saleem, Fowzia Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

The novel Coronavirus disease (COVID-19) has been shown to involve the nervous system (both central and peripheral), with or without respiratory involvement in multiple ways. Although not much is known about this disease yet, seizures and status epilepticus which may evolve into refractory status epilepticus have been associated with it along with other manifestations like encephalopathy, neuropathies etc. The mechanism for development of seizures with COVID-19 related disease is not entirely known however it can be the consequence of “cytokine release syndrome” or “cytokine storm” which has been associated with this virus. Patients with COVID-19 infection who develop resistant status …


Pakistan Ischemic Stroke Guidelines, Anjum Farooq, Maria Khan, Ayesha Zafar, Husnain Hashim, Fozan Khan, Abdul Malik, Ayeesha Kamran Kamal Aga Khan University, Karachi, Mohammad Wasay Dec 2024

Pakistan Ischemic Stroke Guidelines, Anjum Farooq, Maria Khan, Ayesha Zafar, Husnain Hashim, Fozan Khan, Abdul Malik, Ayeesha Kamran Kamal Aga Khan University, Karachi, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

Stroke is the second leading cause of death and disability. Mortality related to stroke is very high in low- and middle-income countries. Stroke imposes a great socioeconomical burden in Pakistan. It is important to take important steps for prevention and proper management of stroke in country. Purpose of developing stroke guidelines is to improve stroke care in Pakistan. Guidelines are designed to help neurologists and general practitioners for treating stroke. American stroke guidelines, NICE guidelines, Canadian guidelines and multiple important articles including those emphasizing stroke care in low- and middle-income countries were studied, and these current guidelines were designed in …


Focused Ultrasound: A New Era In Tremor Control, Sajid Hameed Dec 2024

Focused Ultrasound: A New Era In Tremor Control, Sajid Hameed

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Tocilizumab In The Management Of Neuromyelitis Optica Spectrum Disorder: A Narrative Review Of Literature And Critical Appraisal, Salman Mansoor, Samar Iltaf Mairajuddin, Saqib Gul Dec 2024

Tocilizumab In The Management Of Neuromyelitis Optica Spectrum Disorder: A Narrative Review Of Literature And Critical Appraisal, Salman Mansoor, Samar Iltaf Mairajuddin, Saqib Gul

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective

Neuromyelitis Optica Spectrum disorder (NMOSD) mostly affects the spinal cord and optic nerves. This manuscript aims to explore the treatment potential of tocilizumab, a monoclonal antibody that targets the interleukin-6 (IL-6) receptor and regulates inflammatory cytokines implicated in the pathophysiology of NMOSD. Methods

A thorough search of the pertinent literature was done for this research utilising electronic databases, specifically PubMed, Cochrane Library, and Embase, which contained studies published from 2016 to 2024.

Results Clinical studies show that tocilizumab improves clinical outcomes and lowers recurrence rates in people with NMOSD, especially those who don't respond to traditional treatments. …


Chorea As A Rare Manifestation Of Neuropsychiatric Systemic Lupus Erythematosus: A Case Report, Qurat Ul Ain, Ashfeen Ishfaq, Farzana Kouser, Rabia Rasool Dec 2024

Chorea As A Rare Manifestation Of Neuropsychiatric Systemic Lupus Erythematosus: A Case Report, Qurat Ul Ain, Ashfeen Ishfaq, Farzana Kouser, Rabia Rasool

Pakistan Journal of Neurological Sciences (PJNS)

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multisystemic involvement. It has variable clinical presentations and a relapsing and remitting course. Clinical manifestations are broad, ranging from mild mucocutaneous involvement to major organ involvement. We present a case of a 32-year-old female with repeated movements of the right arm, and confusion with a background of pains in multiple joints. She was diagnosed as a case of Neuropsychiatric Systemic Lupus Erythematosus (NPSLE). She was managed with pulse therapy of cyclophosphamide (CYC) along with other supportive medications. After six months of intensive immunosuppressive therapy, she remained well and continued maintenance …


The Field Of Interventional Neurology (In) In Pakistan: Scope And Challenges, Ahmed Wali Jun 2024

The Field Of Interventional Neurology (In) In Pakistan: Scope And Challenges, Ahmed Wali

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Anjlee Shankar, Asif Ali, Shaheen Bhatty Jun 2024

A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Anjlee Shankar, Asif Ali, Shaheen Bhatty

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Recurrent Intraosseous Myxoma: A Case Report, Alma Corazon T De La Cruz, Michael N Sabalza Jun 2024

Recurrent Intraosseous Myxoma: A Case Report, Alma Corazon T De La Cruz, Michael N Sabalza

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Video Gaming Addiction In Pakistani Adolescents: A Growing Concern, Hamza Imran, Batool Mujtaba, Hamza Waheed, Muhammad Ibrahim Jun 2024

Video Gaming Addiction In Pakistani Adolescents: A Growing Concern, Hamza Imran, Batool Mujtaba, Hamza Waheed, Muhammad Ibrahim

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: 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 …


Treatment And Outcome Of Non-Convulsive Status Epilepticus In Children: A Cross-Sectional Study, Shaila Ali, Natasha Ghani, Tipu Sultan Jun 2024

Treatment And Outcome Of Non-Convulsive Status Epilepticus In Children: A Cross-Sectional Study, Shaila Ali, Natasha Ghani, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

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 assessed in terms of morbidity and mortality. The …


Causes And Presentations Of Bilateral Thalamic Lesions: A Retrospective Cross-Sectional Study From A Tertiary Care Hospital, Shafaq Saleem, Muhammad Saleem, Fatima Mubarak, Salman Farooq Jun 2024

Causes And Presentations Of Bilateral Thalamic Lesions: A Retrospective Cross-Sectional Study From A Tertiary Care Hospital, Shafaq Saleem, Muhammad Saleem, Fatima Mubarak, Salman Farooq

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Gender Differences In Risk Factor Profiles And Predictors Of Poor Outcomes Among Acute Stroke Patients: A Pilot Study From Egypt, Ahmed Abualhasan, Foad Abd-Allah, Sahar Salaheldin, Enas Alsayyad Jun 2024

Gender Differences In Risk Factor Profiles And Predictors Of Poor Outcomes Among Acute Stroke Patients: A Pilot Study From Egypt, Ahmed Abualhasan, Foad Abd-Allah, Sahar Salaheldin, Enas Alsayyad

Pakistan Journal of Neurological Sciences (PJNS)

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 Among Egyptian population.

Methods: We prospectively recruited 116 acute stroke patients admitted to the stroke unit at Cairo University Hospitals from January 2020 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 …


A Case Of Charcot-Marie-Tooth Disease Type 2o (Cmt 20) Associated With Dync1h1 And Slc12a6 Mutations, Tehreem Arshad, Muhammad Jawad Hassan, Arsalan Ahmad Jun 2024

A Case Of Charcot-Marie-Tooth Disease Type 2o (Cmt 20) Associated With Dync1h1 And Slc12a6 Mutations, Tehreem Arshad, Muhammad Jawad Hassan, Arsalan Ahmad

Pakistan Journal of Neurological Sciences (PJNS)

Charcot-Marie-Tooth disease (Charcot Marie-Tooth) comprises of a variety of hereditary diseases affecting the peripheral nervous system. Charcot Marie-Tooth2 is a subgroup caused by defects in the axon of the peripheral nerve cells. Charcot Marie-Tooth Type 2O 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 Charcot Marie-Tooth Type 2O, 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 …


Hurdles In Diagnosis Of Familial Amyotrophic Lateral Sclerosis With Anticipation Catastrophe Across Three Generations: A Case Report, Sana Ghous, Alam Ibrahim Siddiqui Jun 2024

Hurdles In Diagnosis Of Familial Amyotrophic Lateral Sclerosis With Anticipation Catastrophe Across Three Generations: A Case Report, Sana Ghous, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Rare Presentation Of Central Nervous System Tuberculosis With Bilateral Anterior Cerebral Artery Aneurysm: A Case Report, Maryam Khalil, Mansoor Iqbal, Samer Naik, Ayma Khan Khan, Zakir Jan, Mazhar Badshah Jun 2024

Rare Presentation Of Central Nervous System Tuberculosis With Bilateral Anterior Cerebral Artery Aneurysm: A Case Report, Maryam Khalil, Mansoor Iqbal, Samer Naik, Ayma Khan Khan, Zakir Jan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Ocrelizumab In Multiple Sclerosis:Real-World Experience From Baluchistan, Pakistan, Ahmed Wali, Sajid Hameed, Hazar Khan, Amara Ahmed, Madiha Malik Jun 2024

Ocrelizumab In Multiple Sclerosis:Real-World Experience From Baluchistan, Pakistan, Ahmed Wali, Sajid Hameed, Hazar Khan, Amara Ahmed, Madiha Malik

Pakistan Journal of Neurological Sciences (PJNS)

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, …


Neurocognitive Outcome Following Tuberculous Meningitis Treatment: A Systematic Review, Muhammad Ilham Dhiya Rakasiwi, Erlina Burhan, Afid Brilliana Putra, Ihya Fakhrurizal Amin, Nadhif Wiratara Jun 2024

Neurocognitive Outcome Following Tuberculous Meningitis Treatment: A Systematic Review, Muhammad Ilham Dhiya Rakasiwi, Erlina Burhan, Afid Brilliana Putra, Ihya Fakhrurizal Amin, Nadhif Wiratara

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Evaluation Of Body Mass Index (Bmi): A Risk Factor For Stroke Among Pakistani Youth, Shafaq Saleem, Safia Awan, Ibrar Rafique, Kashif Hafeez Jun 2024

Evaluation Of Body Mass Index (Bmi): A Risk Factor For Stroke Among Pakistani Youth, Shafaq Saleem, Safia Awan, Ibrar Rafique, Kashif Hafeez

Pakistan Journal of Neurological Sciences (PJNS)

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 …


Severe Ataxia With Cognitive Impairment In A Young Child: A Case Report Of Pontocerebellar Hypoplasia, Soban Khan, Zeeshan Munawar, Zaid Waqar, Saad Ali, Bushra Khalid, Amina Sadiqa, Mazhar Badshah Mar 2024

Severe Ataxia With Cognitive Impairment In A Young Child: A Case Report Of Pontocerebellar Hypoplasia, Soban Khan, Zeeshan Munawar, Zaid Waqar, Saad Ali, Bushra Khalid, Amina Sadiqa, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Adolescence is a period of rapid development and a variety of genetic disorders present during this time due to difficulties with motor and cognitive skills. A very rare group of diseases is genetic Pontocerebellar Hypoplasia, characterized by a developmentally small cerebellum that leads to ataxia and movement abnormalities. Here, we present a case of a young boy who presented with ataxia and falls.


Age-Stratified Mosaic Of Neuropathies: A Comprehensive Analysis Of The Prevalence And Patterns In Different Age Groups, Sana Ghous, Anjlee Shankar, Abdul Qadir Baloch, Dipanty Khastoori, Tahira Maqsood, Alam Ibrahim Siddiqui Mar 2024

Age-Stratified Mosaic Of Neuropathies: A Comprehensive Analysis Of The Prevalence And Patterns In Different Age Groups, Sana Ghous, Anjlee Shankar, Abdul Qadir Baloch, Dipanty Khastoori, Tahira Maqsood, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Neuropathies pose significant challenges in diagnosis and management due to their heterogeneous etiologies, varied clinical presentations, and differential prevalence across age groups. The objective of this study was to analyze the distribution of neuropathies among patients in various age brackets, highlighting prevalent neuropathic types and their clinical implications.

Methods:

From September 18, 2018 to September 17, 2019, 405 patients from Neurology Ward of Chandka Medical College Hospital in Larkana were included in this retrospective cross-sectional comprehensive analysis. Nerve conduction studies (NCS) of these patients were conducted in the electrophysiology department. The study cohort was stratified into …


Effects Of Maternal Subclinical Hypothyroidism On Neurodevelopment Of Offspring- An Animal-Based Study, Sabah Farhat, Syeda Sadia Fatima, Mehir Un Nisa Iqbal, Fazal Arain Mar 2024

Effects Of Maternal Subclinical Hypothyroidism On Neurodevelopment Of Offspring- An Animal-Based Study, Sabah Farhat, Syeda Sadia Fatima, Mehir Un Nisa Iqbal, Fazal Arain

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Maternal subclinical hypothyroidism (SCH) during pregnancy is associated with adverse maternal and neonatal outcomes, including cognitive and neuropsychiatric effects. This study aimed to assess the impact of maternal SCH on young rats, examining behavioral and gross brain structure changes, and evaluating reversibility after levothyroxine treatment.

Methods:

This experimental animal study was conducted at the Aga Khan University for a duration of 10 months. The study was approved by the Ethical committee for Animal Care and Use. Fourteen female Sprague Dawley rats were grouped into Treated (induced with SCH, treated with levothyroxine), Untreated (induced with SCH, no …


Use Of The 0.3-Tesla Mri Machine In Pakistan For Neurological Disorders In The Current Era: A Necessary Compromise Or A Counterproductive Exercise?, Wajid Jawaid Mar 2024

Use Of The 0.3-Tesla Mri Machine In Pakistan For Neurological Disorders In The Current Era: A Necessary Compromise Or A Counterproductive Exercise?, Wajid Jawaid

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Beyond The Mosquito Sting: Guillain-Barre Syndrome Following Malarial Seasonal Surge, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Abu Bakar Shaikh, Sajjad Hussain Jalbani, Abdul Ghafoor Magsi Mar 2024

Beyond The Mosquito Sting: Guillain-Barre Syndrome Following Malarial Seasonal Surge, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Abu Bakar Shaikh, Sajjad Hussain Jalbani, Abdul Ghafoor Magsi

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Malaria, a prevalent disease most commonly caused by Plasmodium vivax and falciparum, frequently leads to intricate neurological complications. The objective of this study was to study Guillain-Barre syndrome as a prevalent neurological manifestation of malaria.

Methods:

A cross-sectional observational study was undertaken at Neurology Department of Chandka Medical College Hospital in Larkana, from April 2023 to September 2023 during the seasonal peak of malaria. The study included 20 patients who met the specified criteria. SPSS version 23.0 was used for data analysis.

Results:

Among the 20 patients who developed Guillain-Barre Syndrome following malaria infection, 18 exhibited …


Wilson’S Disease Presenting As Status Epilepticus: A Case Report, Iqra Athar, Neelma Naz Khattak, Hania Batool, Tehreem Farah, Tashfain Shifa, Zukhruf Zayian Mar 2024

Wilson’S Disease Presenting As Status Epilepticus: A Case Report, Iqra Athar, Neelma Naz Khattak, Hania Batool, Tehreem Farah, Tashfain Shifa, Zukhruf Zayian

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common. Here, we describe a case of a 19-year-old boy who presented with a history of hallucinations and status epilepticus. Initial investigations were normal, but due to a rising trend in alanine transaminase (ALT), a slit lamp examination was performed, revealing Kayser-Fleischer (KF) rings in the eyes. The patient was diagnosed with WD due to the presence of these KF rings …


Atypical Facio-Scapulo-Humeral Dystrophy With Facial Sparing: A Case Report, Umer Younas, Asma Aamir, Farooq Azam Rathore Mar 2024

Atypical Facio-Scapulo-Humeral Dystrophy With Facial Sparing: A Case Report, Umer Younas, Asma Aamir, Farooq Azam Rathore

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Facio-Scapulo-Humeral Dystrophy (FSHD) is an autosomal dominant and third most common inherited muscular dystrophy. Typical phenotype of FSHD initially affects the muscles of the face and upper arm. Atypical FSHD refers to genetically confirmed FSHD with phenotypic variations. Scapulo-Humeral Dystrophy (SHD) is the most common atypical form of FSDH characterized by no facial muscle weakness on clinical examination, while other signs remain consistent with FSHD. We report a 31-year-old male who presented with foot drop and had an unexpected presentation as SHD. Provisional diagnosis of SHD was based on careful medical history, physical examination findings, modest rise in muscle …


Role Of Minimal F-Wave Latency In The Electrodiagnosis Of Polyneuropathy, Areeba Qaiser, Safia Bano, Muhammad Imran Khan, Ahsan Numan Mar 2024

Role Of Minimal F-Wave Latency In The Electrodiagnosis Of Polyneuropathy, Areeba Qaiser, Safia Bano, Muhammad Imran Khan, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Polyneuropathy is a debilitating condition that causes damage to more than two peripheral nerves in the body. The objective of this research was to detect the role of minimal F-wave latency as compared with other nerve conduction parameters for the electro-diagnosis of polyneuropathies.

Methods:

In this descriptive, prospective cross-sectional study, 80 consecutive patients with clinical diagnosis of polyneuropathy (both acute and chronic) between July and December 2023, presenting to the Neurology Department at King Edward Medical University were enrolled. Patients with clinical diagnosis of cervical/lumbar radiculopathies, plexopathies, compressive myelopathy , neuromuscular junction diseases, motor neuron disorders, …


Analyzing The Impact Of Pulse Steroid Therapy On Relapse Rates And Disease Progression In Relapsing-Remitting Multiple Sclerosis: A Comprehensive Retrospective Study, Sana Ghous, Anjlee Shankar, Abdul Rahman Soomro, Abdul Qadir Baloch, Asif Ali, Alam Ibrahim Siddiqui Mar 2024

Analyzing The Impact Of Pulse Steroid Therapy On Relapse Rates And Disease Progression In Relapsing-Remitting Multiple Sclerosis: A Comprehensive Retrospective Study, Sana Ghous, Anjlee Shankar, Abdul Rahman Soomro, Abdul Qadir Baloch, Asif Ali, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Relapsing remitting MS (RRMS) is characterized by recurrent relapses with remissions. Over an extended time-frame, high-dose steroid administration has primarily centered on the treatment of acute relapses, rather than relapse prevention. The objective of this retrospective study is to assess the long-term impact of administering three monthly pulse steroid therapy for three days on relapse rates and the Expanded Disability Status Scale (EDSS) scores in patients with RRMS.

Methods:

This study was conducted at Neurology ward of Chandka Medical College Hospital in Larkana from January 2021 to January 2023. A retrospective analysis of historical patient data, …


Functional Movement Disorders: Understanding, Approach And Diagnosis, Hudaibiya Ayub, Talbiya Ayub, Rasheed Azhar Mar 2024

Functional Movement Disorders: Understanding, Approach And Diagnosis, Hudaibiya Ayub, Talbiya Ayub, Rasheed Azhar

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

This commentary offers a comprehensive examination of Functional Movement Disorders (FMD) and explores recent advancements in our understanding and treatment of these intricate syndromes. FMDs challenge clinicians due to their variable nature and diverse clinical presentations, often intertwined with psychological factors. Impairments in motor intention and agency must be considered when providing care. Recognizing that non-motor symptoms can have a major impact on a patient's quality of life is equally important. Recognizing FMDs as multi-faceted conditions requiring multidisciplinary care allows consideration of cognitive, social, and demographic aspects.