Ehlers-Danlos Syndrome: An Unusual Etiology of Enuresis

Background: Enuresis is a common problem that affects approximately 15% of children and adolescents. Although it can resolve spontaneously, in most cases it can lead to low self-esteem and dysfunctional family and social relationships, especially among pairs. Meticulous approach, identification of comorbidities and behavioral/pharmacologic treatment are for that reason fundamental.

Objective: To alert pediatric community regarding association of enuresis and hypermobility syndromes.

Methods: Case report from suburban hospital in Portugal.

Results: We report the case of a ten year old boy, with family history of spina bifida with enuresis (mother) and primary enuresis (brother) but no relevant personal history. He was first referred to Pediatric consultation for primary nonmonosymptomatic enuresis. No previous response to behavioral measures or desmopressin. Physical examination revealed skin hyperextensibility, joint hypermobility of the shoulders and the 1^st phalangeal-metacarpal joint of both hands, with subluxation. The score of Beighton was 4, foot/height relation > 0,15 and upper segment/lower segment relation > 0,89, with no other marfanoid habitus characteristics. Behavioral measures were reinforced and it was associsted oxybutynin to the ongoing treatment with a decrease of 50% of enuresis episodes. Genetic study confirmed Ehlers-Danlos Syndrome.

Conclusion: Enuresis is a multifactorial dysfunction with known association with hypermobility syndromes. Dysautonomia had probably a central role in the etiology of enuresis in this case report, do to scarcity of autonomic nerves associated with mutation of collagen, which leads to structural changes of bladder.