Clinical and MRI evaluation of Marinesco-Sjögren syndrome with a 21-year-follow-up and a description of a mild form of the disease
(English)Manuscript (preprint) (Other academic)
Marinesco-Sjögren syndrome is a rare autosomal recessive disorder caused by a mutation in the SIL-1 gene and traditionally characterized by cerebellar ataxia, childhood cataracts, progressive myopathy, and developmental delay. We studied three patients with genetically confirmed disease with MRI of the brain and musculature. Muscle MRI findings were quantified calculating muscle / fat signal intensity ratios and compared to those in five controls. Two of the patients had a 21-year-long clinical follow-up. We found a slowly progressive atrophy of the cerebellum and brainstem over a timespan of 19 years, but the signal intensity changes in the cerebellar cortex were stable. MRI of the leg musculature at 4 years of age showed atrophy and fatty infiltration of the anterior thighs and posterior calves. Whole body MRI at 20 years of age revealed progression of the changes in the legs and confirmed the previously published CT findings demonstrating changes in many muscles in adults. The third patient had an unusual, mild, phenotype with no intellectual disability and relatively slight motor disability. Only the upper cerebellum was abnormal on brain MRI and the muscles were much less severely affected at age 27 than in the other patients at age 20. Muscle MRI revealed no signs of active inflammation in any patient. In conclusion, long-term follow-up reveals slowly progressive atrophy in the cerebellum and brain stem in Marinesco-Sjögren syndrome. The phenotypical spectrum of this syndrome also includes mild forms with no intellectual disability, relatively slight motor disability and less MRI abnormalities.
Radiology, Nuclear Medicine and Medical Imaging
IdentifiersURN: urn:nbn:se:uu:diva-303168OAI: oai:DiVA.org:uu-303168DiVA: diva2:970978