Journal of Pediatric Neurology 2019; 17(02): 085-088
DOI: 10.1055/s-0038-1657759
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Rare Syndrome and a Rare Association: Dandy–Walker Malformation and Cockayne Syndrome in a Child

Sedat Işıkay
1   Department of Physiotherapy and Rehabilitation, School of Health Sciences, Hasan Kalyoncu University, Gaziantep, Turkey
,
Burak Bilgin
2   Department of Ophthalmology, Bahçeşehir University, İstanbul, Turkey
,
Kadri Karaer
3   Department of Genetics, Ersin Arslan Goverment Hospital, Gaziantep, Turkey
,
Akif Şirikçi
4   Department of Radiology, Medical Park Hospital, Gaziantep, Turkey
› Author Affiliations
Further Information

Publication History

27 December 2017

26 April 2018

Publication Date:
11 June 2018 (online)

Abstract

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.

 
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