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

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

Publikationsverlauf

Eingereicht: 23. September 2020

Angenommen: 08. Januar 2021

Artikel online veröffentlicht:
03. März 2021

• References

• 1 Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 1990; 35 (03) 319-332
• 2 Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist 2000; 10 (04, Suppl 1): 3S-16S
• 3 Butler MG, Lee PDK, Whitman BY. Management of Prader-Willi Syndrome. New York, NY: Springer; 2006
• 4 Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012; 14 (01) 10-26
• 5 Butler MG, Hartin SN, Hossain WA. et al. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet 2019; 56 (03) 149-153
• 6 Butler MG, Duis J. Chromosome 15 imprinting disorders: genetic laboratory methodology and approaches. Front Pediatr 2020; 8: 154
• 7 Symons FJ, Butler MG, Sanders MD, Feurer ID, Thompson T. Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard 1999; 104 (03) 260-269
• 8 Dykens E, Shah B. Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs 2003; 17 (03) 167-178
• 9 Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK. A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome. Child Psychiatry Hum Dev 2010; 41 (04) 448-463
• 10 Hustyi KM, Hammond JL, Rezvani AB, Hall SS. An analysis of the topography, severity, potential sources of reinforcement, and treatments utilized for skin picking in Prader-Willi syndrome. Res Dev Disabil 2013; 34 (09) 2890-2899
• 11 Potter DD, Bruny JL, Allshouse MJ, Narkewicz MR, Soden JS, Partrick DA. Laparoscopic suture rectopexy for full-thickness anorectal prolapse in children: an effective outpatient procedure. J Pediatr Surg 2010; 45 (10) 2103-2107
• 12 Campeotto F, Naudin C, Viot G, Dupont C. Rectal self-mutilation, rectal bleeding and Prader-Willi syndrome [in French]. Arch Pediatr 2001; 8 (10) 1075-1077
• 13 Bhargava SA, Putnam PE, Kocoshis SA, Rowe M, Hanchett JM. Rectal bleeding in Prader-Willi syndrome. Pediatrics 1996; 97 (02) 265-267
• 14 Whittington J, Holland A. Neurobehavioral phenotype in Prader-Willi syndrome. Am J Med Genet C Semin Med Genet 2010; 154C [phone]
• 15 Kuhlmann L, Joensson IM, Froekjaer JB, Krogh K, Farholt S. A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation. BMC Gastroenterol 2014; 14: 63
• 16 Butler MG, Theodoro MF, Bittel DC, Donnelly JE. Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet A 2007; 143A [phone]
• 17 Gross RD, Gisser R, Cherpes G, Hartman K, Maheshwary R. Subclinical dysphagia in persons with Prader-Willi syndrome. Am J Med Genet A 2017; 173 (02) 384-394
• 18 Alyousif Z, Miller JL, Sandoval MY, MacPherson CW, Nagulesapillai V, Dahl WJ. The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial. Trials 2018; 19 (01) 256
• 19 Butler MG, Hossain WA, Tessman R, Krishnamurthy PC. Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome. Am J Med Genet A 2018; 176 (12) 2587-2594
• 20 Stevenson DA, Heinemann J, Angulo M. et al. Gastric rupture and necrosis in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2007; 45 (02) 272-274
• 21 Salehi P, Lee D, Ambartsumyan L, Sikka N, Scheimann AO. Rectal picking masquerading as inflammatory bowel disease in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2018; 67 (01) 59-63