Medicine:Marinesco–Sjögren syndrome

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Marinesco–Sjögren syndrome
Child with Marinesco–Sjögren syndrome

Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal recessive disorder.

Presentation

Hair in Marinesco–Sjögren syndrome, showing lack of pigment and medulla

The syndrome causes cerebellar ataxia (balance and coordination problems), intellectual disability, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.[1]: 578 


Cause

Marinesco–Sjögren syndrome can be associated with mutations of the SIL1 gene.[2][3]

SIL1 gene is located on chromosome 5q31.2[4]

Diagnosis

Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy.[citation needed]

Differential diagnosis

DDx includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco–Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.[citation needed]

Marinesco–Sjögren-like syndrome is a very rare genetic disorder which is characterized by symptoms similar to those shown by people with Marinesco–Sjögren syndrome, the symptoms (of this variant of MSS) being infantile hypotonia, ataxia, cataracts, intellectual disabilities, cerebellar atrophy, myopathic alterations, vascular degeneration, and adipose tissue proliferation.[5]

Treatment

Epidemiology

Members of the MOWA Band of Choctaw Indians, a state-recognized tribe located in southwest Alabama, have a high frequency of Marinesco–Sjögren syndrome and have been the subject of study.[6][7] They are the only known population in the United States to suffer from the rare disease.[8]

Eponym

It is named for Gheorghe Marinescu and Torsten Sjögren.[9]

See also

  • Skin lesion
  • List of cutaneous conditions

References

  1. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ↑ "Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet 37 (12): 1312–4. 2005. doi:10.1038/ng1678. PMID 16282977. 
  3. ↑ "The gene disrupted in Marinesco–Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat Genet 37 (12): 1309–11. 2005. doi:10.1038/ng1677. PMID 16282978. 
  4. ↑ "Entry - *608005 - SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1 - OMIM". https://omim.org/entry/608005?search=SIL1%20nucleotide%20exchange%20factor&highlight=(central%7Cexchange),factor,nucleotide,sil1. 
  5. ↑ "Marinesco-Sjogren-like syndrome (MSLS) - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls. 
  6. ↑ Georgy, B. A.; Snow, R. D.; Brogdon, B. G.; Wertelecki, W. (1 February 1998). "Neuroradiologic findings in Marinesco-Sjögren syndrome." (in en). American Journal of Neuroradiology 19 (2): 281–283. ISSN 0195-6108. PMID 9504478. PMC 8338194. http://www.ajnr.org/content/19/2/281.short. Retrieved 12 November 2022. 
  7. ↑ Superneau, D. W.; Wertelecki, W.; Zellweger, H.; Bastian, F. (1987). "Myopathy in Marinesco-Sjogren syndrome". European Neurology 26 (1): 8–16. doi:10.1159/000116305. ISSN 0014-3022. PMID 3469098. 
  8. ↑ Stoffle, Richard (1 February 2014) (in en). The New Encyclopedia of Southern Culture: Volume 6: Ethnicity. UNC Press Books. ISBN 978-1-4696-1658-2. https://books.google.com/books?id=XSuaAgAAQBAJ&dq=%22The+community+has+a+high+frequency+of+Marinesco-Sjogren+Syndrome%2C+a+rare+autosomal+recessive+genetic+disorder+that+affects+muscular+coordination+and+other+functions%22&pg=PA199. Retrieved 12 November 2022. 
  9. ↑ synd/1676 at Who Named It?

Further reading

Classification
External resources



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