Ehlers-Danlos syndrome presenting with primary nocturnal enuresis. Issue 2 (4th February 2020)

• Record Type: Journal Article
• Authors: Cunha, Margarida; Matias, Mafalda; Marques, Inês
• Is Part Of: BMJ case reports. Volume 13:Issue 2(2020)
• Publication Date: 2020-02-04
• Subjects: musculoskeletal and joint disorders -- urinary and genital tract disorders -- genetic screening/counselling -- congenital disorders -- connective tissue disease; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2019-231977
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.