Imitated MS Symptoms or Functional Myelosis – A Differential Diagnostic Challenge

By SWA

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system that can present with a wide range of neurological symptoms. Characteristically, it involves episodes (relapses) or progressive neurological impairments such as vision problems, sensory disturbances, coordination difficulties, and paralysis. Due to the diversity of symptoms, MS can be mimicked by a variety of other diseases. A careful differential diagnosis is therefore essential to avoid misdiagnosis and to initiate appropriate treatment.

I. Diseases That Can Mimic MS Symptoms

A number of conditions—neurological, systemic, psychiatric, or otherwise—can cause symptoms that resemble MS.

1. Neurological Diseases

Optic Neuritis

An isolated inflammation of the optic nerve can lead to sudden vision loss, eye pain during movement, and color vision disturbances. These are also common early symptoms of MS but can occur independently or in other conditions like neuromyelitis optica spectrum disorder (NMOSD).

Funicular Myelosis

This degenerative spinal cord disease is caused by vitamin B12 deficiency. It leads to demyelination, particularly of the posterior and lateral spinal cord columns, and can cause symptoms like paresthesias, gait instability, coordination issues, and cognitive changes—all similar to those seen in MS.

Neuromyelitis Optica (NMO)

A distinct antibody-mediated inflammatory condition of the CNS that primarily affects the optic nerves and spinal cord. It is diagnosed by detecting anti-aquaporin-4 antibodies and requires different treatment than MS.

2. Systemic Autoimmune Diseases

Systemic Lupus Erythematosus (SLE)

SLE can affect the CNS (neuropsychiatric lupus) and cause a wide range of neurological symptoms, including seizures, cognitive dysfunction, psychosis, or focal deficits.

Rheumatic Diseases

Systemic vasculitis and rheumatoid arthritis with CNS involvement can also present with neurological symptoms resembling those of MS.

Neurosarcoidosis

Sarcoidosis is a granulomatous inflammatory disease that may involve the CNS. It commonly presents with cranial nerve palsies, myelitis, and meningitis.

3. Psychiatric and Psychosomatic Conditions

Psychogenic Disorders

Somatoform or functional neurological disorders (e.g., dissociative sensory or motor disturbances) may mimic MS symptoms. Careful clinical observation and neurological testing help distinguish between organic and psychogenic causes.

4. Other Differential Diagnoses

Tumors

CNS tumors, especially in the spinal cord or brain, can cause mass effects and neurological deficits that resemble MS.

Chiari Malformation and Spinal Stenosis

These structural abnormalities may compress the spinal cord or brainstem, leading to motor and sensory deficits.

Infections (e.g., Lyme disease, HIV, syphilis)

Infectious diseases can also trigger inflammatory processes in the CNS, imitating MS. Neuroborreliosis from Borrelia burgdorferi, in particular, can cause radicular pain, cranial nerve palsies, or encephalomyelitis.

II. Myelosis – A Collective Term

“Myelosis” refers to diseases of the bone marrow or spinal cord. It includes several distinct conditions:

1. Funicular Myelosis

  • Definition: Demyelination of the posterior and lateral spinal cord columns due to vitamin B12 deficiency.

  • Cause: Most commonly caused by pernicious anemia or absorption disorders (e.g., post-gastric surgery).

  • Symptoms: Numbness, loss of proprioception, ataxia, spastic paraparesis, cognitive changes.

  • Diagnosis: Low vitamin B12 levels, elevated methylmalonic acid and homocysteine, MRI showing signal changes in the posterior spinal cord columns.

  • Treatment: Vitamin B12 supplementation (injections or oral), often lifelong.

2. Chronic Myelosis (e.g., Chronic Myeloid Leukemia – CML)

  • Pathogenesis: Malignant proliferation of granulocytes in the bone marrow.

  • Symptoms: Fatigue, night sweats, splenomegaly, nonspecific neurological complaints.

  • Diagnosis: Altered blood counts, detection of the BCR-ABL translocation.

  • Treatment: Tyrosine kinase inhibitors.

3. Myeloproliferative Disorders

  • Includes polycythemia vera, essential thrombocythemia, and primary myelofibrosis.

  • Characteristics: Overproduction of blood cells, risk of thrombosis, bleeding, or bone marrow fibrosis.

III. Diagnostics and Differential Diagnosis in Suspected MS

A structured diagnostic approach is essential when MS-like symptoms are present.

1. Clinical Examination

  • History: Onset pattern (relapsing or progressive), symptom type and duration, prior illnesses, risk factors.

  • Neurological exam: Reflexes, sensory function, coordination, eye movements, cognition.

2. Imaging

  • MRI of brain and spinal cord: Detects demyelinating lesions. MS lesions are typically periventricular, infratentorial, and spinal.

  • MRI in funicular myelosis: Symmetrical hyperintense signals in the posterior spinal cord columns.

3. CSF Analysis (Lumbar Puncture)

  • In MS: Oligoclonal bands, intrathecal IgG production.

  • Other diseases: Cell count, protein, glucose levels, pathogen detection in infectious causes.

4. Evoked Potentials (EPs)

  • Visual, somatosensory, and motor evoked potentials can detect delayed nerve conduction, as seen in MS or myelosis.

5. Laboratory Testing

Comprehensive laboratory testing is essential to exclude mimics of MS and identify treatable underlying causes:

  • Vitamin B12 Status:

    • Serum Vitamin B12: A low value suggests deficiency.

    • Homocysteine and Methylmalonic Acid (MMA): Both markers are elevated in functional B12 deficiency, sometimes even when serum B12 appears normal.

    • Urine Testing: Homocysteine and methylmalonic acid can also be measured in urine to confirm tissue-level deficiency.

  • Autoimmune Screening:

    • Antinuclear Antibodies (ANA) and Antiphospholipid Antibodies (aPL): Important when systemic lupus erythematosus (SLE) or antiphospholipid syndrome is suspected.

    • Intrinsic Factor Antibodies (IFA) and Parietal Cell Antibodies (PCA): These are critical for diagnosing pernicious anemia, a common cause of B12 deficiency due to autoimmune gastritis.

  • Infectious Workup:

    • Borrelia Serology: Lyme disease testing (ELISA + confirmatory Western blot).

    • HIV and Syphilis Screening: As these infections can cause CNS manifestations that mimic MS.

IV. Conclusion

Exclusion of atrophic gastritis, which can occur as an autoimmune disease, is important.
This chronic inflammation of the stomach lining involves the immune system mistakenly attacking the parietal cells, leading to atrophy of the gastric mucosa. As a result, the production of stomach acid and intrinsic factor may be reduced, which can lead to vitamin B12 malabsorption.

Many neurological and systemic diseases can mimic the clinical picture of multiple sclerosis. In particular, funicular myelosis is a critical differential diagnosis because it is potentially reversible—provided it is recognized and treated early. A thorough medical history, focused neurological examination, and appropriate laboratory and imaging diagnostics are essential for accurate diagnosis.

Key Clinical Takeaways:

  • MS is a diagnosis of exclusion—other causes must be carefully evaluated.

  • Vitamin B12 deficiency is common and easily treatable—always check in MS-like cases.

  • Interdisciplinary collaboration (neurology, hematology, rheumatology, psychiatry) is often essential for accurate diagnosis.

Reference:

Subacute Combined Degeneration: https://www.msdmanuals.com/home/brain-spinal-cord-and-nerve-disorders/spinal-cord-disorders/subacute-combined-degeneration

Subacute combined degeneration of the cord: https://radiopaedia.org/articles/subacute-combined-degeneration-of-the-cord-1

Subacute combined degeneration of the cervical and dorsal spinal cord in a 40-year-old male patient: A case report: https://pmc.ncbi.nlm.nih.gov/articles/PMC7596018/

Myelopathy (spinal cord affection) https://avicenna-klinik.com/en/spine-symptoms-disorders/myelopathy/


© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742

 

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