Multiple Sclerosis: Practice Cases

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Headshot of Dawn Elise DeWitt, MD, MSc, CMedEd, MACP, FRACP, FRCP-London · Senior Associate Dean, Collaboration for InterProfessional Health Education Research & Scholarship (CIPHERS)
Dawn Elise DeWitt
MD, MSc, CMedEd, MACP, FRACP, FRCP-London · Senior Associate Dean, Collaboration for InterProfessional Health Education Research & Scholarship (CIPHERS)
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Table of Contents

Patient 1: Janelle—Feet numbness

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A 43-year-old architect presents to the ED with 2 days of bilateral ascending numbness that started in her feet. She has also noticed difficulty climbing stairs and dancing last night was “impossible, and I’m usually really coordinated.” Her current medications are vitamin C for colds, St. John’s Wort daily for “low mood,” and a multivitamin.
Six months ago she had similar symptoms and was diagnosed at a telemedicine visit with possible Guillain-Barré (she had her Covid-19 vaccine a month prior)—but because of decreased access to care, she had no follow-up and things seemed to improve on their own.
On physical examination, her left grip is weak, and she has a positive plantar reflex on the right as well as decreased sensation in both feet and ankles to cold and light touch.

Investigations

Brain/spine MRI requested.

Question

Which of the following is the most likely finding on this patient’s MRIs?

Cerebral edema

  • Cerebral edema has a wide range of causes, and can present with some of the signs and symptoms presented above, including weakness and visual changes. It is commonly associated with headache, nausea and vomiting, and can progress to coma and death in severe cases. However, the patient has no identifiable risk factors for cerebral edema, based on the vignette; she had not experienced a head trauma, was not known to have an infection, did not travel to high elevation without oxygen, etc.  


Hippocampal atrophy

  • Hippocampal atrophy is most commonly associated with Alzheimer’s disease, although it is present in several other well-known neurologic conditions, particularly dementias. The vignette for our patient was not consistent with the picture of dementia, and she was not having memory issues.


Multiple ring-enhancing parenchymal lesions

  • There are a number of potential etiologies for cerebral ring-enhancing lesions, ranging from abscess and infection (toxoplasmosis, neurocysticercosis) to brain tumor, metastases, CNS lymphoma, and subacute infarcts. While certain demyelinating processes, including Guillain-Barre Syndrome, can present with “incomplete” ring-like lesions, this is not as common of a finding in multiple sclerosis (the most likely diagnosis for our patient). Our patient’s vignette doesn’t fit any of the usual causes of ring-enhancing lesions.  


Periventricular white matter lesions (correct answer)

  • The patient most likely has multiple sclerosis (MS). When assessing brain and spinal MRIs, neurologists and neuroradiologists rely heavily on the McDonald diagnostic criteria to delineate the number, size and location of brain and spinal cord lesions necessary for consideration of this diagnosis. Periventricular white matter lesions, especially those oriented perpendicular to the ventricles, are strongly associated with the diagnosis of MS. In assessing white matter changes, serial imaging can be helpful to determine whether there are new lesions disseminated in (anatomical) space and time. 


Spinal cord syrinx

  • The condition known as syringomyelia is caused by the formation of a syrinx, which is a cyst-like formation in the spinal cord. This condition can share many of the same findings as those in multiple sclerosis (and other neurologic conditions), including muscle weakness, ataxia, numbness or changes in sensation, and muscle spasticity. Unlike the signs and symptoms described in our patient, which seemed to have a relapsing-remitting course, syringomyelia-related clinical findings don’t tend to fluctuate over time and are in fact often progressive in nature. Also, a syrinx would not commonly present with the “exhaustion” described by the patient.  

 

 Keywords: Numbness, Multiple Sclerosis

References

  1. Filippi, M., Preziosa, P., Banwell, B. L., Barkhof, F., Ciccarelli, O., De Stefano, N., Geurts, J., Paul, F., Reich, D. S., Toosy, A. T., Traboulsee, A., Wattjes, M. P., Yousry, T. A., Gass, A., Lubetzki, C., Weinshenker, B. G., & Rocca, M. A. (2019). Assessment of lesions on magnetic resonance imaging in multiple sclerosis: practical guidelines. Brain : a journal of neurology, 142(7), 1858–1875.
  2. Tubbs, R. Shane, PhD. Syringomyelia. NORD Rare Disease Database. Updated September 1, 2020.
  3. Syringomyelia Fact Sheet. National Institute of Neurological Disorders and Stroke.
  4. Nehring SM, Tadi P, Tenny S. Cerebral Edema. [Updated 2023 Jul 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan—. 
  5. Gaillard, F., Knipe, H. Cerebral ring enhancing lesions. Reference article, Radiopaedia.org. Accessed on 02 May 2022.
  6. W Cheo, Q J Low. Multiple cerebral ring enhancing lesions. QJM: An International Journal of Medicine, Volume 112, Issue 3, March 2019, Pages 221–222.

Patient 2: Carmen—Funny vision

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A 29-year-old epidemiologist, originally from Mexico, presents to the clinic with ascending numbness and weakness in his left leg. Last year she had "some funny vision”; she couldn’t read well for a few days. She has occasional “tension” headaches and reports some new “exhaustion.” She takes naps most days but has no other symptoms. She travels to Mexico annually to visit her family. Her father died of Hepatitis C complications, and a grandmother had TB years ago.

On exam, she is afebrile, BMI 28. Sensation is decreased to pinprick and light touch in the left foot and ankle. She leans to the left when walking and is unable to balance on either foot—falling to the left when trying to perform a tandem gait. Bending her neck forward sends a tingling sensation down her spine.

Question

Which of the following is the best next step for evaluating the patient?

Brain and spine MRI (correct answer)

  • The McDonald Criteria are the most commonly applied set of diagnostic parameters for multiple sclerosis (MS). Based on the patient’s subjective history of an episode of vision changes, which could represent optic neuritis or possibly neuromyelitis optica, as well as her current neurologic symptoms, we will assume that she is experiencing a second attack, disseminated in anatomic space and time. Because she only has objective clinical evidence of one lesion (the prior vision changes were not clinically assessed), the patient would need evidence of characteristic white matter lesions on brain and/or spine MRI. As such, it is indicated to order MRIs of her brain and spine. 


ANA with reflex

  • Based on this practice case, it is very likely that our patient has multiple sclerosis (MS). She is experiencing what appears to be her second “attack,” with optic neuritis or neuromyelitis optica (NMO) likely constituting the first. An ANA with reflex could be useful in the workup of her condition, especially if she didn’t have the pathognomonic radiologic findings described in answer choice (B). However, it is not considered as relevant as a brain MRI when assessing characteristic MS findings.


Chest X-ray

  • While chest radiographs are useful in monitoring for complications of certain autoimmune conditions, they are not commonly used for the workup of MS, which is what our patient likely has.  


Lumbar puncture

  • CSF can certainly be obtained to further evaluate and substantiate an MS diagnosis, and rule out other possible etiologies on a differential diagnosis (e.g., vasculitis or infection). MS-specific findings would include oligoclonal bands on electrophoresis, increased protein (especially in an acute flare), and an elevated IgG index (difference between serum and CSF IgG levels). However, given the patient’s clinical presentation, CSF is not required for diagnosis and could put her at unnecessary risk of developing a CSF leak with severe headache or even infection. In some settings, CSF can be used as a diagnostic substitute for MRI studies, but for our patient, MRI would be less invasive. 

 

 Keywords: Numbness, Multiple Sclerosis

References

  1. Filippi, M., Preziosa, P., Banwell, B. L., Barkhof, F., Ciccarelli, O., De Stefano, N., Geurts, J., Paul, F., Reich, D. S., Toosy, A. T., Traboulsee, A., Wattjes, M. P., Yousry, T. A., Gass, A., Lubetzki, C., Weinshenker, B. G., & Rocca, M. A. (2019). Assessment of lesions on magnetic resonance imaging in multiple sclerosis: practical guidelines. Brain: A journal of neurology, 142(7), 1858–1875.
  2. Luzzio, C., Dangond, F. Multiple Sclerosis Workup. Updated Jan. 3, 2022. [Medscape].
  3. Huang, W. J., Chen, W. W., & Zhang, X. (2017). Multiple sclerosis: Pathology, diagnosis, and treatments. Experimental and therapeutic medicine, 13(6), 3163–3166.
  4. Rose, J.W., Hourchens, M., Lynch, S.G. Multiple Sclerosis Testing. University of Utah Spencer S. Eccles Health Sciences.

Image credits

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