OMIM 248800 MeSH D013132 | DiseasesDB 31430 Orphanet 559 | |
GeneReviews Marinesco-Sjögren Syndrome | ||
Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder.
Contents
Presentation
The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.
Small stature, mild to severe mental retardation 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.
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.
It can be associated with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases.
Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
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.
Eponym
It is named for Gheorghe Marinescu and Torsten Sjögren.