Radiologically isolated syndrome

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Radiologically isolated syndrome (RIS) is a clinical situation in which a person has white matter lesions suggestive of multiple sclerosis (MS), as shown on an MRI scan that was done for reasons unrelated to MS symptoms. The nerve lesions in these people show dissemination in space with an otherwise normal neurological examination and without historical accounts of typical MS symptoms. [1]

Contents

MRI findings that are consistent with multiple sclerosis have been observed in healthy people who underwent MRI scanning, and 50% go on to develop symptomatic MS, sometimes with a primary progressive course. [2] [3] This condition was first characterized in 2009. [4]

Diagnosis

The criteria for an RIS diagnosis are as follows: [5] [4] [6]

  1. The presence of incidental MRI findings in the CNS white matter:
    1. Ovoid and well-circumscribed homogeneous foci, with or without involvement of the corpus callosum
    2. T2 hyperintensities larger than 3 mm in diameter, which fulfill at least 3 of the 4 Barkhof MRI criteria [7] for DIS
    3. The CNS abnormalities are not consistent with a vascular condition
  2. No historical accounts of clinical symptoms consistent with neurological dysfunction.
  3. MRI anomalies do not account for apparent impairment in social, occupational, or generalized areas of functioning.
  4. MRI anomalies are not due to substance abuse, such as recreational drug use, toxic exposure, or a prior known medical condition.
  5. Exclusion of a differential diagnosis of leukoaraiosis, or extensive white matter pathology excluding the corpus callosum.
  6. MRI anomalies of the CNS are not accounted for by another disease.

Discovery

RIS is discovered when an MRI scan is performed for other reasons. The most common symptom that led to the incidental discovery of RIS is headache. [5] Other common reasons are trauma, psychiatric disorders, and endocrinological disorders. [5]

Management

Currently, routine clinical follow-up and MRI neuroimaging surveillance is the standard by which patients are observed. [4] While treatment of MS disease modifying therapies have been given to some individuals with RIS, the majority opt for active surveillance and the appearance of clinical symptoms before commencing treatment, [5] as treatment is considered controversial. [8]

Prognosis

In a 5 year study, clinical events, which refers to the first symptoms of exacerbations, clinical attacks, flare ups, or severe symptoms, indicative of MS, appeared in 34% of individuals. [9] Of those who developed symptoms, 9.6% fulfilled criteria for primary progressive multiple sclerosis (PPMS). [9]

Epidemiology

Due to the incidental nature of RIS, exact figures on prevalence is unknown, though it has been suggested that RIS is the most common type of asymptomatic MS. [10] The prevalence may be higher in relatives of patients with MS. [11] One study, at a university hospital that is located in a high region of MS disease incidence, put the disease prevalence at approximately 1 in 2000. [12] An earlier study in 1961 of 15,644 autopsies found 12 cases (0.08%) of unexpected MS findings without a previous history of MS symptoms. [5] [13] The mean age of first indication of RIS from 451 patients is 37.2 years. [9]

RIS in children

Though rare, some children that have had MRI scans for reasons unrelated to MS have shown signs of RIS. The most common reason for an initial MRI in these children was a headache. The first occurrence of a clinical event characteristic of MS in nearly half of the children examined was 2 years, though in a majority of cases, 'radiologic evolution', i.e. the increase in the number of size of lesions as detected in subsequent MRI, developed after one year. The presence of oligoclonal bands in the CSF and spinal cord lesions were associated with an increased risk of a first clinical event characteristic of MS. It was found that children with RIS had a substantial risk of subsequent clinical symptoms and/or radiologic evolution. [6]

Research directions

Calls have been made for longer prospective studies, tracking the development of potential disease progression over a longer period of time are warranted. This would ensure criteria in RIS is satisfactory and whether consideration should be given to treating individuals with RIS on current MS medication. [5] [7]

RIS has been linked to prodromal multiple sclerosis. [14]

Etymology

The acronym RIS was coined in 2009 by Okuda and colleagues. [4] Siva and colleagues suggested an alternate name, radiologically uncovered asymptomatic possible inflammatory-demyelinating disease (RAPIDD). [5] [15]

Related Research Articles

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Acute disseminated encephalomyelitis (ADEM), or acute demyelinating encephalomyelitis, is a rare autoimmune disease marked by a sudden, widespread attack of inflammation in the brain and spinal cord. As well as causing the brain and spinal cord to become inflamed, ADEM also attacks the nerves of the central nervous system and damages their myelin insulation, which, as a result, destroys the white matter. It is often triggered by a viral infection or vaccinations.

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  5. Autoimmune causes
Multiple sclerosis Disease that damages the myelin sheaths around nerves

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Interferon beta-1a

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McDonald criteria

The McDonald criteria are diagnostic criteria for multiple sclerosis (MS). These criteria are named after neurologist W. Ian McDonald who directed an international panel in association with the National Multiple Sclerosis Society (NMSS) of America and recommended revised diagnostic criteria for MS in April 2001. These new criteria intended to replace the Poser criteria and the older Schumacher criteria. They have undergone revisions in 2005, 2010 and 2017.

Angiomyolipoma Medical condition

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Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease that affects the central nervous system (CNS). Several therapies for it exist, although there is no known cure.

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Balo concentric sclerosis Medical condition

Baló's concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers, leaving the axis cylinder intact. It was described by József Mátyás Baló who initially named it "leuko-encephalitis periaxialis concentrica" from the previous definition, and it is currently considered one of the borderline forms of multiple sclerosis.

Multiple sclerosis signs and symptoms

Multiple sclerosis can cause a variety of symptoms: changes in sensation (hypoesthesia), muscle weakness, abnormal muscle spasms, or difficulty moving; difficulties with coordination and balance; problems in speech (dysarthria) or swallowing (dysphagia), visual problems, fatigue and acute or chronic pain syndromes, bladder and bowel difficulties, cognitive impairment, or emotional symptomatology. The main clinical measure in progression of the disability and severity of the symptoms is the Expanded Disability Status Scale or EDSS.

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A clinically isolated syndrome (CIS) is a clinical situation of an individual's first neurological episode, caused by inflammation or demyelination of nerve tissue. An episode may be monofocal, in which symptoms present at a single site in the central nervous system, or multifocal, in which multiple sites exhibit symptoms. CIS with enough paraclinical evidence can be considered as a clinical stage of multiple sclerosis (MS). It can also be retrospectively diagnosed as a kind of MS when more evidence is available.

Tumefactive multiple sclerosis Medical condition

Tumefactive multiple sclerosis is a condition in which the central nervous system of a person has multiple demyelinating lesions with atypical characteristics for those of standard multiple sclerosis (MS). It is called tumefactive as the lesions are "tumor-like" and they mimic tumors clinically, radiologically and sometimes pathologically.

Multiple sclerosis diagnosis

Current standard for diagnosing multiple sclerosis (MS) is based in the 2018 revision of McDonald criteria. They rely in MRI detection of demyelinating lesions in the CNS, which are distributed in space (DIS) and in time (DIT). It is also a requirement that any possible known disease that produces demyelinating lesions is ruled out before applying McDonald's criteria.

Pathology of multiple sclerosis

Multiple sclerosis (MS) can be pathologically defined as the presence of distributed glial scars (scleroses) in the central nervous system that must show dissemination in time (DIT) and in space (DIS) to be considered MS lesions.

MOG antibody disease, MOGAD or Anti-MOG associated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system. Serum anti-myelin oligodendrocyte glycoprotein antibodies are present in up to half of patients with an acquired demyelinating syndrome and have been described in association with a range of phenotypic presentations, including acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, and neuromyelitis optica.

Several biomarkers for diagnosis of multiple sclerosis, disease evolution and response to medication are under research. While most of them are still under research, there are some of them already well stablished:

References

  1. ↑ Labiano-Fontcuberta, Andrés; Benito-León, Julián (October 2016). "Radiologically isolated syndrome: An update on a rare entity". Multiple Sclerosis (Houndmills, Basingstoke, England). 22 (12): 1514–1521. doi:10.1177/1352458516653666. ISSN   1477-0970. PMID   27288053. S2CID   31847038.
  2. ↑ Reich, Daniel S; Lucchinetti, Claudia F.; Calabresi, Peter A (January 2018). "Multiple Sclerosis". The New England Journal of Medicine. 378 (2): 169–180. doi:10.1056/NEJMra1401483. PMC   6942519 . PMID   29320652.
  3. ↑ Kantarci, Orhun H.; Lebrun, Christine; Siva, Aksel; Keegan, Mark B.; Azevedo, Christina J.; Inglese, Matilde; Tintoré, Mar; Newton, Braeden D.; Durand-Dubief, Francoise (February 2016). "Primary Progressive Multiple Sclerosis Evolving From Radiologically Isolated Syndrome". Annals of Neurology. 79 (2): 288–294. doi:10.1002/ana.24564. ISSN   1531-8249. PMID   26599831. S2CID   19868714.
  4. 1 2 3 4 Okuda, D. T.; Mowry, E. M.; Beheshtian, A.; Waubant, E.; Baranzini, S. E.; Goodin, D. S.; Hauser, S. L.; Pelletier, D. (2009-03-03). "Incidental MRI anomalies suggestive of multiple sclerosis: the radiologically isolated syndrome". Neurology. 72 (9): 800–805. doi:10.1212/01.wnl.0000335764.14513.1a. ISSN   1526-632X. PMID   19073949. S2CID   9981947.
  5. 1 2 3 4 5 6 7 Granberg, Tobias; Martola, Juha; Kristoffersen-Wiberg, Maria; Aspelin, Peter; Fredrikson, Sten (March 2013). "Radiologically isolated syndrome--incidental magnetic resonance imaging findings suggestive of multiple sclerosis, a systematic review". Multiple Sclerosis. 19 (3): 271–280. doi:10.1177/1352458512451943. ISSN   1477-0970. PMID   22760099. S2CID   24307387.
  6. 1 2 Makhani, Naila; Lebrun, Christine; Siva, Aksel; Brassat, David; Dallière, Clarisse Carra; Seze, Jérôme de; Du, Wei; Dubief, Françoise Durand; Kantarci, Orhun (2017-11-01). "Radiologically isolated syndrome in children: Clinical and radiologic outcomes". Neurology: Neuroimmunology & Neuroinflammation. 4 (6): e395. doi:10.1212/NXI.0000000000000395. ISSN   2332-7812. PMC   5614726 . PMID   28959703.
  7. 1 2 Leahy, Hannah; Center, University of Massachusetts Memorial Medical; Garg, Neeta (2013). "Radiologically Isolated Syndrome: An Overview". Neurological Bulletin. 5 (1): 22–26. doi: 10.7191/neurol_bull.2013.1044 .
  8. ↑ Yamout, B.; Khawajah, M. Al (2017-10-01). "Radiologically isolated syndrome and multiple sclerosis". Multiple Sclerosis and Related Disorders. 17: 234–237. doi:10.1016/j.msard.2017.08.016. ISSN   2211-0348. PMID   29055465.
  9. 1 2 3 Okuda, Darin T.; Siva, Aksel; Kantarci, Orhun; Inglese, Matilde; Katz, Ilana; Tutuncu, Melih; Keegan, B. Mark; Donlon, Stacy; Hua, Le H. (2014-03-05). "Radiologically Isolated Syndrome: 5-Year Risk for an Initial Clinical Event". PLOS ONE. 9 (3): e90509. Bibcode:2014PLoSO...990509O. doi: 10.1371/journal.pone.0090509 . ISSN   1932-6203. PMC   3943959 . PMID   24598783.
  10. ↑ Siva, Aksel (2013-12-01). "Asymptomatic MS". Clinical Neurology and Neurosurgery. 115: S1–S5. doi:10.1016/j.clineuro.2013.09.012. ISSN   0303-8467. PMID   24321147. S2CID   29282376.
  11. ↑ Gabelic, T.; Ramasamy, D. P.; Weinstock-Guttman, B.; Hagemeier, J.; Kennedy, C.; Melia, R.; Hojnacki, D.; Ramanathan, M.; Zivadinov, R. (2014-01-01). "Prevalence of Radiologically Isolated Syndrome and White Matter Signal Abnormalities in Healthy Relatives of Patients with Multiple Sclerosis". American Journal of Neuroradiology. 35 (1): 106–112. doi: 10.3174/ajnr.A3653 . ISSN   0195-6108. PMC   7966501 . PMID   23886745.
  12. ↑ Granberg, Tobias; Martola, Juha; Aspelin, Peter; Kristoffersen-Wiberg, Maria; Fredrikson, Sten (2013-11-01). "Radiologically isolated syndrome: an uncommon finding at a university clinic in a high-prevalence region for multiple sclerosis". BMJ Open. 3 (11): e003531. doi:10.1136/bmjopen-2013-003531. ISSN   2044-6055. PMC   3822304 . PMID   24189079.
  13. ↑ Georgi W. Multiple sclerosis. Anatomopathological findings of multiple sclerosis in diseases not clinically diagnosed. Schweiz Med Wochenschr 1961; 91: 605–607. (German)
  14. ↑ Tremlett, Helen; Okuda, Darin T.; Lebrun-Frenay, Christine (2021). "The multiple sclerosis prodrome is just unspecific symptoms in radiologically isolated syndrome patients – No". Multiple Sclerosis Journal. 27 (12): 1824–1826. doi:10.1177/13524585211035951. PMC   8521363 . PMID   34494923.
  15. ↑ Siva, A.; Saip, S.; Altintas, A.; Jacob, A.; Keegan, B.M.; Kantarci, O.H. (2009). "Multiple sclerosis risk in radiologically uncovered asymptomatic possible inflammatory-demyelinating disease". Multiple Sclerosis Journal. 15 (8): 918–927. doi:10.1177/1352458509106214. PMID   19667020. S2CID   20746782.
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