A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
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CitationIslkay, S., Bilgin, B., Karaer, K., & Sirikci, A. (January 01, 2019). A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child. Journal of Pediatric Neurology, 17, 2, 85-88.
Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy-Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities.