Multiple Sclerosis: Diagnostic Tests

Mandatory medical device diagnostics.

  • Eye examination – if optic neuritis is suspected.
    • Slit lamp examination (slit lamp microscope; viewing of the eyeball under appropriate illumination and high magnification; in this case: Viewing of the anterior and middle segments of the eye).
    • Ophthalmoscopy (ocular fundus examination; examination of the central fundus) – to diagnose optic neuritis [optic disc usually appears sharp; mild papilledema/congestion papilla may be present (one-third of patients))
    • Visual acuity determination [in optic neuritis from “no light appearance” to 1.5; in two-thirds of MS patients < 0.5; normal findings: 20-year-olds: 1.0-1.6, 80-year-olds: 0.6-1.0]
    • Relative afferent pupillary defect (RAPD) testing: see below Physical examination/swinging-flashlight test (SWIFT; pupil alternating exposure test; pupil comparison test).
    • Perimetry (visual field measurement)
  • Magnetic resonance imaging of the skull (cranial MRI; cranial MRI; cMRI) as the gold standard – for suspected optic neuritis; multiple sclerosis; signs of MS on MRI include:
    • Contrast uptake in T1 sequences (DD: optic sheath meningioma may give the same finding as optic neuritis; if contrast uptake persists after 3 months, think optic sheath meningioma; if contrast uptake of more than in half of optic nerve and involvement of optic chiasm, think: Neuromyelitis optica)
    • In the case of two and more demyelinating foci in the brain (especially in the bar and periventricular medullary bed), at least one of which takes up contrast medium (gadolinium) = multiple sclerosis
    • With two and more demyelinating foci in the brain that do not take up contrast = “clinically isolated syndrome” (HIS; associated with a high risk of MS)
    • When there are no typical lesions of multiple sclerosis: 24% of patients after optic neuritis develop multiple sclerosis
  • Note: In patients with clinically isolated syndrome (CIS) who have an abnormal baseline MRI but do not yet meet the revised 2010 McDonald criteria, a follow-up MRI should be performed after three to six months. If this second scan also remains inconclusive, a third scan can be performed even up to 12 months later. Note: Patients with so-called “radiologically isolated syndrome” should be diagnosed with MS immediately upon the onset of symptoms.
  • Magnetic resonance imaging of the spine/spinal MRI – in patients with spinal symptoms at disease onset or suspected spinal lesion; signs of MS on MRI are:
    • Focal hyperintensities in T2/PD (proton density)-weighted and FLAIR (fluid attenuated inversion recovery) images [multiple regions of CNS (spatial dissemination) affected; MR tomographic temporal dissemination].
  • Note: When supraspinal MRI is inconclusive or in patients who have supraspinal abnormalities in terms of radiologically isolated syndrome (RIS), spinal MRI is helpful.
  • Visual evoked potentials as a basic diagnostic tool (VEP, MEP, SEP) – in suspected diagnosis or relapse or progression; possibility to detect spatial dissemination [VEP are latency delayed in optic neuritis]Note: VEP examination is not necessary for diagnosis.

Optional medical device diagnostics – depending on the results of the history, physical examination, laboratory diagnostics and obligatory medical device diagnostics – for differential diagnostic clarification.

  • Computed tomography of the skull (cranial CT, cranial CT or cCT) – may be unremarkable in mild form of MS; signs of MS: hypodensitiesNote: Cranial CT should not be performed instead of cranial MRI in optic neuritis.
  • Optical coherence tomography* – imaging technique used to examine the retina (retina), vitreous, and optic nerve (optic nerve); by examining the retina, the course of axonal damage can be inferred
  • Urodynamic diagnostics (including measurement of bladder function during filling via a catheter and subsequent emptying (pressure-flow analysis) to differentiate the various forms of urinary incontinence (stress, urge incontinence also mixed forms, neurogenic bladder) – in the presence of bladder dysfunction.

* S1 Guideline: pediatric multiple sclerosis [see below].

Further references

  • It is not uncommon for the disease to begin with an isolated symptom, for which the English term “clinically isolated syndrome” (CIS) has become common. Note: Approximately one-third of these patients do not develop multiple sclerosis even in the long term. Patients with CIS who develop MS have a stable, benign course over three decades in about 40%. Magnetic resonance imaging (MRI) has demonstrated two prognostically relevant factors: Number of infratentorial lesions (changes “below the tentorium”/transverse meningeal structure between the occipital lobe/occipital lobe of the cerebrum and the cerebellum) at CIS diagnosis and “deep white matter lesions” (DWM) one year after CIS diagnosis. If these two factors did not occur in the first year after CIS diagnosis, the probability of disabling multiple sclerosis at 30 years was 13%. In contrast, if DWM was present, it was 49%, and if DWM plus infratentorial lesions were present, it was 94%.
  • In MS patients treated with disease-modifying therapy (DMT) for at least 6 months, the administration of gadolinium-based MRI contrast agent for monitoring can be omitted. Only in about 1% of MRI cases, the use of contrast agents provided additional information on reactivated altoids. Limitation: retrospective study