Medicine and Health Sciences Commons^™

Spontaneous Pneumothorax: A Rare Complication Of Neurofibromatosis Type 1 Associated Diffuse Lung Disease, Emma I. Sherfinski, Mark H. Cooper Md, Phd

Marshall Journal of Medicine

The visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been well documented throughout scientific literature. While not uncommon, the pulmonary manifestations of NF1 are unknown to many physicians. Complications of NF1 associated diffuse lung disease (NF-DLD) include pulmonary hypertension, pulmonary artery stenosis, subpleural cysts, and spontaneous pneumothorax. We present a case of a 34-year-old male with NF-DLD found incidentally in adolescence with previous apical bleb repair, presenting nearly twenty years later with spontaneous pneumothorax. In NF1 patients with pulmonary complaints, NF-DLD should be assessed with computed tomography (CT) and physicians should be familiar with …

Utility And Yield Of Genetic Testing Leading To A Definitive Neuromuscular Or Neuropathic Diagnosis At A Rural Outpatient Neurology Clinic Affiliated With A University Health Center In West Virginia Over 4 Years., Holly Farkosh, Dominika Lozowska

Marshall Journal of Medicine

Introduction

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate the future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it is important to assess the cost-benefit ratio to determine whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis …

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Diagnosis Obscured By Concomitant Recreational Drug Use, Paige Lester Ms Ii, Adam M. Franks Md, William Rollyson Ms Iv, Jenna K. Barbour Md, Matthew B. Curry Md

Marshall Journal of Medicine

Anti-NMDA receptor encephalitis (aNMDAre) is a relatively newly discovered autoimmune and inflammatory disorder affecting the limbic system. It has a clinical course that includes Prodromal, Psychiatric, Unresponsive and Hyperkinetic stages. These stages are often confused with mental health issues in the medical literature, but they also share symptoms of various drug intoxication and withdrawal states. Implicit bias in physicians regarding substance use disorder and patient demographics can impair delivery of care and outcomes in patients with aNMDAre, especially in an environment of recreational drug use. When clinical presentation aligns, this diagnosis should be investigated as soon as possible, even in …

Chronic Inflammatory Demyelinating Polyneuropathy (Cidp) In A Patient With Diabetes: A Primary Care Perspective, Jordan Dever, Adam M. Franks, Laura M. Given, William Rollyson, Adrienne Mays-Kingston

Marshall Journal of Medicine

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a recurrent and progressive disease that causes proximal, symmetrical extremity weakness. The disease is diagnosed using clinical features, electrophysiologic testing, albumino-cytological disassociation in the cerebrospinal fluid, and sural nerve plexus biopsy. However, because of the low sensitivity of diagnostic criteria and other similar neuropathies, including diabetic polyneuropathy (DPN), accurate diagnosis is difficult. Differentiating between these diseases is especially important as CIDP’s changes are reversible and DPN’s are not. Making this differentiation allows for symptomatic improvement in a patient’s quality of life that would not be achieved otherwise. Early recognition and treatment, with modalities including …

Acute Diagnosis Of Wilson’S Disease In A Teenage Patient, Sarah Irvin, Ryan Mccarthy

Marshall Journal of Medicine

Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms. It is important to consider Wilson’s disease because the prognosis is dependent on timely diagnosis. This is an interesting case of a 19-year-old male who presented with suicidal thoughts and rapid weight loss. After many months and an extensive work-up, Wilson’s Disease was diagnosed. Due to his rapid decline, he was transferred to a larger university healthcare center where he is currently enrolled in clinical …

Medical Therapies For Motor Symptoms In Parkinson’S Disease, Conrad Musey, Vikram Shivkumar

Marshall Journal of Medicine

Parkinson’s Disease is the second most common neurodegenerative disorder in the aging population. It is associated with progressive loss of nigrostriatal dopaminergic neurons. Parkinsonism is a clinical syndrome that consists of motor and non-motor symptoms. It has been well described that many if not all of these deficits are associated with abnormalities related to the neurotransmitter Dopamine. This review is intended for primary care physicians who often establish the diagnosis and initiate Parkinson’s treatments. One challenge faced by the primary care physician is to decide the appropriate medication and starting dose. Often medications are used at very low doses or …

Herpes Simplex Virus Type Ii In A Patient Having Periodic Lateralized Epileptiform Discharges, Justin Chuang, Sona K. Shah

Marshall Journal of Medicine

Herpes Simplex Encephalitis has been found to be one of the most common causes of fatal viral encephalitis (1). The mortality rate in untreated patients has been found to be as high as 70%, thus, correct management and early diagnosis are important for good prognoses and crucial for predicting outcomes. (1,2) In patients with Herpes Simplex Virus (HSV), specific findings such as the Periodic lateralized epileptic form discharges (PLEDs) are considered a specific finding on electroencephalogram (EEG). PLEDs are usually seen in the context of destructive structural lesions involving the cortex. Other causes may include acute ischemic stroke and, less …

An Unusual Case Of Escherichia Coli Meningitis And Bacteremia In An Elderly Woman Presenting With Intractable Low Back Pain, Andrea M. Lauffer, Mahmoud Shorman, Carl Mccomas

Marshall Journal of Medicine

Abstract

Introduction:

We report an unusual case of E. coli meningitis in an elderly woman who presented to the emergency room with a chief complaint of intractable low back pain.

Case Description:

A 67 year old woman presented to the emergency room for a chief complaint of intractable low back pain. After admission, the patient developed delirium. Blood cultures were drawn. Patient underwent a lumbar puncture which revealed purulent cerebrospinal fluid. Results of the cerebrospinal fluid and blood cultures revealed pan-sensitive E. coli.

Conclusion:

In the geriatric population, delayed presentation of meningitis can occur for various reasons. With the older …

Spinal Cord Injury And Autonomic Dysreflexia- A Case Report, Apurva Bhatt, Brit Moore, Talal Asif, Kristy E. Steigerwalt, Rebecca R. Pauly

Marshall Journal of Medicine

Autonomic dysreflexia (AD) is a life threatening condition affecting patients with spinal cord lesions T6 level and above. A 51 year old male with a history of paraplegia due to a C6 spinal cord injury (30 years prior) presented with recurrent debilitating episodic diaphoresis, hypertension, low body temperature, and bradycardia. Previous hospitalizations presumed sepsis from UTI to be the etiology, however on further evaluation his symptoms were consistent with undiagnosed AD. This article describes a unique case presentation and reviews AD in depth, including the etiology, pathophysiology and management.

Cross-Sectional Survey Of Relevant Literatures As To The Current Proposed Disease Mechanisms And Treatments Of Amyotrophic Lateral Sclerosis (Als), Zachary Sanford

Marshall Journal of Medicine

Amyotrophic Lateral Sclerosis (ALS), more commonly referred to as Lou Gehrig’s disease, is a progressively degenerative neuromuscular disorder affecting both the upper and lower motor neurons and preferentially affecting males in their forties to seventies. Although the pathology of ALS has been clearly elucidated elsewhere, the precise mechanisms by which the disease progresses and the means by which it is acquired are still poorly understood areas of medicine. Current genomic and proteomic studies in human and animal models have yielded exciting and promising new findings that may help elucidate this pathology. It is the purpose of this review article to …