Marinesco–Sjögren syndrome

Presentation

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.

Small stature, mild to severe intellectual disability and dysarthria (slow, imprecise speech) are usually present. Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur. Muscle weakness is progressive, but life expectancy is near normal.

Cause

Marinesco–Sjögren syndrome can be associated with mutations of the SIL1 gene.

SIL1 gene is located on chromosome 5q31.2

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.

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.

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.

Treatment

Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. Hormone replacement therapy is needed if hypogonadism is present.

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. They are the only known population in the United States to suffer from the rare disease.

Eponym

It is named for Gheorghe Marinescu and Torsten Sjögren.

References

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. (2005). "Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet.
3. (2005). "The gene disrupted in Marinesco–Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat Genet.
4. "Entry - *608005 - SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1 - OMIM".
5. "Marinesco-Sjogren-like syndrome (MSLS) - About the Disease - Genetic and Rare Diseases Information Center".
6. (1 February 1998). "Neuroradiologic findings in Marinesco-Sjögren syndrome.". American Journal of Neuroradiology.
7. (1987). "Myopathy in Marinesco-Sjogren syndrome". European Neurology.
8. (1 February 2014). "The New Encyclopedia of Southern Culture: Volume 6: Ethnicity". UNC Press Books.
9. {{WhoNamedIt. synd. 1676