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

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.

Keywords

Cockayne syndrome - Dandy–Walker malformation - child

• References

• 1 Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936; 11 (61) 1-8
• 2 Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Cockayne syndrome: clinical features, model systems and pathways. Ageing Res Rev 2017; 33 (01) 3-17
• 3 Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet A 2011; 155A [phone]
• 4 Laugel V, Dalloz C, Durand M. , et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat 2010; 31 (02) 113-126
• 5 Shenoy RD, Kamath N. Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and bifid hallux. Clin Dysmorphol 2010; 19 (03) 166-168
• 6 Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D. , eds. The Metabolic and Metabolic Bases of Inherited Disease. 7th ed. St. Louis: McGraw-Hill; 2001: 4393-4419
• 7 Reid-Bayliss KS, Arron ST, Loeb LA, Bezrookove V, Cleaver JE. Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. Proc Natl Acad Sci U S A 2016; 113 (36) 10151-10156
• 8 Rudnicka L, Olszewska M, Rakowska A, Slowinska M. Trichoscopy update 2011. J Dermatol Case Rep 2011; 5 (04) 82-88
• 9 Wadhwa SL, Khopkar U, Nischal KC. Hair and scalp disorders. In: Valia RG, Valia AR. , eds. IADVL Textbook of Dermatology. 3rd ed. Mumbai, India: Bhalani Publishing House; 2008: 864-948
• 10 Ji H, Li D, Wu Y. , et al. Hypomyelinating disorders in China: the clinical and genetic heterogeneity in 119 patients. PLoS One 2018; 13 (02) e0188869
• 11 Barata MA, Souza RO, Tavares FLS. , et al. Cockayne syndrome - a case report. Braz J Med Human Health 2014; 2 (01) 50-52