Atypical Presentation of Multiple Sclerosis Presents Diagnostic Challenges

Case Report

J Fam Med. 2020; 7(5): 1209.

Atypical Presentation of Multiple Sclerosis Presents Diagnostic Challenges

Hamza M1, Nesbitt E1 and Kaysin A2*

1University of Maryland School of Medicine, Baltimore, USA

2University of Maryland School of Medicine, Dept of Family and Community Medicine, Baltimore, USA

*Corresponding author: Kaysin, A, Dept of Family and Community Medicine, University of Maryland School of Medicine, 29 S Paca St, Baltimore, MD 20770, USA

Received: March 06, 2020; Accepted: April 21, 2020; Published: April 28, 2020


Multiple Sclerosis (MS) can present diagnostic challenges to clinicians due to its varied clinical presentations and lack of specific biomarkers. The McDonald criteria can aid in diagnosis but may require serial MRI scans to detect focal white matter lesions. Primary care clinicians are likely to encounter patients with new onset neurologic symptoms suggestive of MS or chronic, nonspecific, neurologic symptoms without a clear diagnosis. Long-term follow-up, re-evaluations and serial testing is a strong component of the model of care provided by primary care clinicians which can enable earlier diagnosis and access to comprehensive treatment. Clinicians must be vigilant to avoid premature closure by anchoring on to a diagnosis based on insufficient criteria. This report describes a patient with an atypical case of relapsing-remitting MS which went undiagnosed for a decade despite periodic evaluations by different clinicians, CNS imaging and specialist consultation. Following diagnosis, the patient was started on disease modifying therapy and engaged more comprehensively in the overall care of the physical and behavioral aspects of MS with measurable improvement.

Keywords: Multiple Sclerosis; Demyelination; Magnetic resonance imaging

Case Presentation

A 40-year-old African-American woman with a past medical history of asthma, sickle cell trait, B12 deficiency, morbid obesity and knee osteoarthritis presented to the family medicine clinic with a two-week history of diffuse paresthesia, weakness and associated body pain with centripetal radiation and sparing of the face, neck and shoulders. The patient reported severe physical dysfunction and inability to work due to difficulty with gait, lower extremity coordination and pain radiating distally from the thighs while walking. She also reported a metallic taste in the mouth. Further, the patient endorsed recent onset of mild urinary incontinence and depressed mood. There were no visual changes, heat sensitivity, skin rash or diurnal variation in symptoms. A cursory evaluation at an urgent care facility at the time of symptom onset revealed mild microcytic anemia, dehydration, normal chest x-ray and unremarkable 12-lead EKG.

The patient reported experiencing similar, brief, self-resolving and intermittent episodes of diffuse pain and paresthesia of lesser intensity over the past ten years. These were previously attributed to chronic pain syndrome and fibromyalgia given suggestive exam findings. She denied any causative, alleviating or worsening factors as well as other associated symptoms. Work-up done over the past decade included MRI of the brain and cervical spine, complete metabolic panel, Hgb A1C, and a complete blood count. No significant lab abnormalities were identified. Prior brain MRI findings were inconclusive but did demonstrated minimal T2 FLAIR signal hyperintensity within the white matter, which was nondiagnostic. Patient denied trauma, substance abuse other than marijuana, recent travel, febrile illness or new medications. She reported no tobacco or alcohol use. Family history was unremarkable. Thus, a definitive diagnosis was not made despite comprehensive work-up and specialist consultation.

Physical exam at the current time demonstrated normal vital signs. Cranial nerves II-XII were intact and symmetric. Strength was moderately diminished over the extremities, especially the bilateral lower extremities. Markedly impaired light touch and vibratory sensation over the trunk and extremities were noted. Deep tendon reflexes were all preserved. Gait abnormality with inability to walk on toes and heels and difficulty with tandem gait was observed. Due to the patient’s presenting symptoms as well as prior history of neurologic symptoms, our suspicion for multiple sclerosis (MS) was high.

Imaging included an MRI of the brain and cervical spine with contrast which was significant for nonspecific foci of abnormal T2 FLAIR signal in the supratentorial, periventricular and subcortical white matter, with two new sub-centimeter right periventricular and one new left corona radiata lesions (Figures 1 and 2). New lesions were also present in the dorsal mid cord at the level of C1/C2 and left lateral cord at C7. 

The Diagnosis

The patient’s 10-year clinical history of atypical symptoms and physical exam findings such as pain and paresthesia of the extremities, along with inconclusive imaging findings, necessitated a broad evaluation looking for endocrine, metabolic, hematologic, infectious, paraneoplastic and auto-immune etiologies. We also considered heavy metal toxicity and somatization or conversion disorder on our differential. Workup included laboratory results significant for a mild microcytic anemia, elevated B12, low vitamin D, and normal folate, TSH, Hgb A1C, CK, CRP and nonreactive HIV and RPR. BMP and ANA were within normal limits.

Although MS was not initially high on our differential due to the atypical symptom presentation and inconclusive imaging, due to the patient’s current presentation and symptomatology coupled with the MRI findings of new demyelinating brain lesions and lack of abnormal findings on a comprehensive work-up, a final diagnosis of MS was established.

Citation:Hamza M, Nesbitt E and Kaysin A. Atypical Presentation of Multiple Sclerosis Presents Diagnostic Challenges. J Fam Med. 2020; 7(5): 1209.