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J Pediatr Genet 2022; 11(01): 001-004
DOI: 10.1055/s-0041-1724049
Case-Based Review

Prolapsed Rectum and Risk Factors in Prader–Willi Syndrome: A Case-Based Review

Merlin G. Butler
1   Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, United States
› Author Affiliations Funding This study received partial funding from the National Institute of Child Health and Human Development (grant number HD02528).
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Abstract

A 14-year-old male adolescent patient with Prader–Willi syndrome (PWS) with maternal disomy 15 was reported with rectal prolapse as only the second patient in the literature. With predisposing risk factors present for rectal damage and prolapse in this syndrome, the incidence must be higher and therefore underreported. These risk factors include skin and rectal picking, self-stimulation, altered pain sensation, decreased muscle mass, strength and physical activity with hypotonia, and gastrointestinal (GI) disturbances. Pertinent literature was reviewed and analyzed that focused on clinical features and behavior seen in PWS as underrecognized risk factors for developing rectal damage and prolapse. An illustrative case is presented as the second patient reported with PWS and a prolapsed rectum. A discussion of predisposing behavioral and clinical risk factors is presented including for self-stimulation, rectal picking, chronic constipation, decreased gut motility, reduced water intake, and a restricted diet. Although a paucity of cases do exist, physical, behavioral, and GI findings common in PWS may contribute to rectal prolapse requiring better awareness and proactive surveillance, management, and treatment protocols for patients affected with this rare obesity-related genetic disorder.

Keywords

Prader–Willi syndrome - risk factors - self-injury - rectal picking - prolapsed - chronic constipation - restricted diet


Publication History

Received: 23 September 2020

Accepted: 08 January 2021

Article published online:
03 March 2021

© 2020. Thieme. All rights reserved.

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