Neuropediatrics 2007; 38(2): 88-90
DOI: 10.1055/s-2007-984448
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

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

S. Schulz 1 , 4 , S. Vielhaber 2 , P. Muschke 1 , K. Mohnike 3 , R. Gooding 4 , P. Wieacker 1
  • 1Institute of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany
  • 2Department of Neurology II, Otto-von-Guericke-University, Magdeburg, Germany
  • 3Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany
  • 4Laboratory of Molecular Genetics, Western Australian Institute for Medical Research, Perth, Australia
Further Information

Publication History

received 24.8.2006

accepted 15.5.2007

Publication Date:
22 August 2007 (online)

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.

References

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Correspondence

Dr. S. Schulz

Institute of Human Genetics

Otto-von-Guericke University

Leipziger Strasse 44

39120 Magdeburg

Germany

Phone: +49/391/671 72 30

Fax: +49/391/671 72 70

Email: solveig.schulz@medizin.uni-magdeburg.de