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Rare disease
Case report
Ehlers-Danlos syndrome presenting with primary nocturnal enuresis
  1. Margarida Cunha,
  2. Mafalda Matias and
  3. Inês Marques
  1. Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal
  1. Correspondence to Dr Margarida Cunha; cunhapmargarida{at}gmail.com

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.

  • musculoskeletal and joint disorders
  • urinary and genital tract disorders
  • genetic screening/counselling
  • congenital disorders
  • connective tissue disease

https://doi.org/10.1136/bcr-2019-231977

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    Footnotes

    • Contributors Conception and design: MC, MM, IM. Acquisition of data: MC, MM. Analysis and interpretation of data: MC, MM, IM. Drafting the article: MC, MM. Critical revision: IM. Contribute with intellectual content: MC, MM, IM. Final approval of the version published: MC, MM, IM. Agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved: MC, MM, IM.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.