Marinesco-Sjoegren syndrome
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Pathology
- multisystem disorder
- cerebellar ataxia due to cerebellar atrophy, with Purkinje & granule cell loss
- myopathy featuring marked muscle replacement with fat & connective tissue
Genetics
- autosomal recessive
- associated with defects in SIL1 gene
Clinical manifestations
- bilateral cataracts
- hypergonadotrophic hypogonadism
- mild to severe mental retardation
- skeletal abnormalities, short stature, dysarthria, strabismus & nystagmus are frequent