[MIM 248 800]

Very rare. Belongs to the group of the cerebellar ataxias with autosomal recessive transmission.  Mutation of the SIL1 gene on 5q31. Phenotype similar to the congenital cataract-facial dysmorphy-neuropathy syndrome (see this term).

Association of:

-        cerebellar ataxia: nystagmus, dysarthria

-        congenital cataracts

-        peripheral demyelinating neuropathy

-         psychomotor retardation

-         muscle hypotonia: areflexia and atrophy of neurogenic origin, but images similar to congenital muscle dystrophy or mitochondrial myopathy have been observed in some cases

-         hypergonadotrophic hypogonadism

-        short stature

-        MRI: cerebellar hypoplasia with a small posterior fossa

Sometimes: seizures, episodes of rhabdomyolysis associated with a febrile episode.

Anesthetic implications:

visual deficit, moderate mental retardation, short stature; neurostimulation techniques (monitoring of muscle relaxation and nerve blocks) are unreliable. Halogenated agents could have to be avoided due to the risk of rhabdomyolysis.

References : 

-         Slavotinek A, Goldman J, Weisiger K, Kostinek D et al. 
Marinesco-Sjögren syndrome in a male patient with mild dysmorphism. 
Am J Med Genet 2005; 133A: 197-201.

-         Goto M, Okada M, Komaki H, Sugai K et al. 
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Orphanet J Rare Diseases 2014; 9:58

-        Gupta M, Dass C, Garg H, Chhabra A.
Anesthetic management of a child with Marinesco-Sjogren syndrome for catatract surgery.
Pediatr Anesth 2021; 31:245-6

       

Updated: February 2021