Uncommon Presentation of Multiple Sclerosis: A Clinical Case Report

Ivan Kristi^*
*Correspondence: Ivan Kristi, Department of Neurodegeneration Diagnostics, Medical University of Bialystok, 15-328 Bialystok, Poland, Email:

Introduction

Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system, typically characterized by the demyelination of neurons, leading to a variety of neurological impairments. The disease manifests in several forms, with Relapsing-Remitting MS (RRMS) and Progressive MS (PPMS) being the most common. However, the clinical presentation of MS can vary greatly from patient to patient and in some cases, patients may exhibit atypical or uncommon features that challenge traditional diagnostic criteria and therapeutic approaches. Despite the established pathophysiology and characteristic presentations of MS, rare and unusual presentations continue to emerge in clinical practice. These uncommon forms can complicate diagnosis, delay appropriate treatment and hinder understanding of the full spectrum of the disease. Such cases may involve unexpected symptoms, atypical age of onset, and unusual disease course, or rare neurological involvement, demanding heightened awareness among healthcare providers. Multiple Sclerosis (MS) is a chronic, unpredictable neurological disease that affects the Central Nervous System (CNS), which comprises the brain and spinal cord. It occurs when the immune system mistakenly attacks the myelin sheath, a protective covering surrounding nerve fibers. This damage disrupts the normal transmission of electrical impulses along the nerves, leading to a wide range of symptoms that can vary significantly in severity. MS is considered an autoimmune disorder and is typically diagnosed in individuals aged 20 to 40, though it can occur at any age [1].

Description

The exact cause of MS is still not fully understood, but it is believed to be the result of a combination of genetic and environmental factors. While there is no known single cause, the disease is thought to be triggered by an autoimmune response in which the body's immune system attacks its own tissues. Specifically, MS affects the myelin, the fatty substance that insulates nerve fibers and the underlying nerve axons themselves. In MS, activated T cells (immune cells) cross the blood-brain barrier and attack the myelin. This leads to inflammation and subsequent damage to the myelin sheath, a process known as demyelination. The damage can result in scarring or sclerosis, hence the name "Multiple Sclerosis." As the myelin is damaged, the nerve fibers are left exposed and vulnerable, leading to interference in the nerve’s ability to transmit electrical impulses efficiently. Multiple sclerosis is categorized into four main types based on the progression of the disease. Relapsing-Remitting MS (RRMS) is the most common form, marked by episodes of symptom flare-ups (relapses) followed by periods of remission, where symptoms may improve or disappear. Primary Progressive MS (PPMS) involves a gradual worsening of symptoms without distinct relapses or remissions, typically starting with a steady decline in function. Secondary Progressive MS (SPMS) begins as relapsing-remitting but eventually transitions into a progressive decline without distinct relapses, often becoming more severe over time. Progressive-Relapsing MS (PRMS) is a rare form characterized by progressive worsening of symptoms from the outset, along with occasional relapses of increased severity. Several factors may contribute to an individual's risk of developing multiple sclerosis (MS). Genetics play a role, as a family history of MS slightly increases the likelihood and certain immune system-related genes have been linked to the disease, though no single gene is directly responsible. MS is also more common in women, with a female-to-male ratio of approximately 2-3:1, suggesting hormonal differences may be a factor. The disease is most commonly diagnosed in young adults between the ages of 20 and 40, though it can occur in both children and older adults. Geographic location is another factor, as MS is more prevalent in regions farther from the equator, such as North America and Northern Europe, potentially due to low sunlight exposure and vitamin D deficiency. Viral infections, particularly the Epstein - Barr virus (EBV), are thought to increase MS risk, with people who have had mononucleosis caused by EBV being more likely to develop MS later in life. Additionally, smoking has been linked to a higher risk of MS and may exacerbate disease progression [2].

The symptoms of Multiple Sclerosis (MS) can vary significantly between individuals, depending on the location and extent of nerve damage in the Central Nervous System (CNS). Common symptoms include fatigue, one of the most frequent and debilitating symptoms of MS; vision problems such as blurred or double vision, optic neuritis (inflammation of the optic nerve) and blindness in one eye; numbness and tingling, often felt in the limbs, face, or torso; muscle weakness, which can make walking, standing, or climbing stairs difficult; coordination and balance issues, including ataxia, a condition that affects movement coordination; cognitive and emotional changes, such as memory problems, difficulty concentrating and emotional instability like depression or mood swings; bladder and bowel dysfunction, with difficulty controlling urination and bowel movements; and pain, particularly neuropathic pain, including burning or stabbing sensations. Diagnosing Multiple Sclerosis (MS) involves a comprehensive clinical evaluation, which includes several key components. First, a detailed medical history is taken, covering symptoms, family history and past medical conditions. A neurological examination is then performed to assess reflexes, strength, coordination, balance and vision. Magnetic Resonance Imaging (MRI) of the brain and spinal cord is essential to identify areas of demyelination or plaques, which are characteristic of MS. A lumbar puncture (spinal tap) may also be conducted to analyze Cerebrospinal Fluid (CSF) for specific abnormalities, such as the presence of oligoclonal bands, which are commonly found in MS patients. Additionally, evoked potentials tests measure electrical activity in the brain in response to visual or sensory stimuli, helping to detect nerve pathway damage [3].

Although there is no cure for Multiple Sclerosis (MS), several treatment options are available to manage symptoms, reduce the frequency of relapses and slow disease progression. Disease-Modifying Therapies (DMTs) are commonly used to reduce relapse frequency and severity, as well as delay progression; these include medications such as interferons, glatiramer acetate, natalizumab and fingolimod. High-dose corticosteroids are often prescribed during relapses to reduce inflammation and shorten flare-up durations. Symptom management involves medications and therapies to address specific symptoms like muscle spasticity, fatigue, pain, depression and bladder dysfunction, with options including antispasmodics, antidepressants and physical therapy. Additionally, lifestyle modifications, including regular exercise, stress management, a balanced diet and adequate rest, are encouraged. For many individuals with MS, physical and occupational therapy can help improve mobility, strength and overall quality of life. The prognosis for individuals with MS varies widely. Some people experience only mild symptoms with long periods of remission, while others may develop progressive disability. Early diagnosis and the use of disease-modifying therapies have been shown to improve long-term outcomes. Most individuals with MS live a normal or near-normal life expectancy, though some may experience significant disabilities that affect their daily functioning [4,5].

Conclusion

Multiple Sclerosis is a complex and unpredictable disease that can significantly impact an individual's quality of life. Advances in research have led to better understanding and treatment of the disease, with several disease-modifying therapies now available to manage symptoms and slow progression. While there is no cure for MS, ongoing research continues to explore new treatment options and potential breakthroughs in the understanding of its causes and mechanisms. Early diagnosis and personalized treatment plans are critical in optimizing outcomes for those living with MS.

Acknowledgement

None.

Conflict of Interest

None.

References

1. Bove, Riley and Tanuja Chitnis. "The role of gender and sex hormones in determining the onset and outcome of multiple sclerosis." Mult Scler J 20 (2014): 520-526.

Google Scholar        Cross Ref                Indexed at

2. McKay, Kyla A., Vivian Kwan, Thomas Duggan and Helen Tremlett. "Risk factors associated with the onset of relapsingâ?remitting and primary progressive multiple sclerosis: A systematic review." BioMed Res Int2015 (2015): 817238.

Google Scholar        Cross Ref                Indexed at

3. Grygielâ?Górniak, Bogna, Nattakarn Limphaibool and Mariusz Puszczewicz. "Cytokine secretion and the risk of depression development in patients with connective tissue diseases." Psychiatry Clin Neurosci 73 (2019): 302-316.

Google Scholar        Cross Ref                Indexed at

4. Kemp, S., R. S. Allan, N. Patanjali and M. H. Barnett, et al. "Neurological deficit following stereotactic radiosurgery for trigeminal neuralgia." J Clin Neurosci 34 (2016): 229-231.

Google Scholar        Cross Ref                Indexed at

5. Polliack, Michael Leon, Yoram Barak and Anat Achiron. "Lateâ?onset multiple sclerosis." J Am Geriatr Soc 49 (2001): 168-171.

Google Scholar        Cross Ref                Indexed at