Congenital Cataract, Ataxia, External Ophthalmoplegia and Dysphagia in Two Siblings. A Marinesco-Sjögren-Like Syndrome

Abstract

Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder with clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and to a varying degree mental retardation. The syndrome was recently mapped to chromosome 5q31, and loss-of-function mutations in the SIL1 gene have been identified as the primary pathology. Here, we describe two German siblings with clinical characteristics resembling those seen in many cases of MSS except that a marked cerebellar atrophy was not detectable in our patients. In addition, both patients presented with external ophthalmoplegia and paralytic dysphagia. Sequencing of all 10 exons of the SIL1 gene did not detect any SIL1 mutation in our patients.

Key words

Ataxia - congenital cataract - ophthalmoplegia - mental retardation - microcephaly

References

• 1 Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L. et al . The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.  Nat Genet. 2005;  37 1309-1311
• 2 Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H. et al . Myopathy is a prominent feature in Marinesco-Sjogren syndrome: A muscle computed tomography study.  J Neurol. 2006;  253 301-306
• 3 Marinesco G, Dragansco D, Vasiliu D. Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du developement somato-neuro-psychique.  Encephale. 1931;  26 97-109
• 4 Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B. et al . Orthopaedic manifestations of Marinesco-Sjogren syndrome.  J Pediatr Orthop. 2002;  22 399-403
• 5 Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N. et al . Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.  Nat Genet. 2005;  37 1312-1314
• 6 Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation.  Confin Neurol. 1950;  10 293-308
• 7 Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.  Eur J Hum Genet. 1999;  7 560-566

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