Rectal Picking Masquerading as Inflammatory Bowel Disease in Prader-Willi Syndrome

Journal of Pediatric Gastroenterology and Nutrition
Parisa SalehiAnn O Scheimann

Abstract

Prader-Willi syndrome (PWS) is a genetic syndrome in which individuals have multisystem medical challenges. Gastroenterological difficulties in the syndrome include decreased vomiting, constipation, delayed gastric emptying, delayed colonic transit, dysphagia, increased choking, and increased risk of gastric dilation and rupture. In addition, self-injurious behavior such as rectal picking may be present and severe enough to lead to rectal ulceration and bleeding. Many patients have extensive gastroenterological workup and treatment before their ultimate diagnosis of severe rectal picking. We describe 4 new cases of rectal picking in individuals with PWS leading to rectal bleeding and ulceration as well as a review of the literature of prior cases of severe rectal picking in PWS and potential treatment options. It is important to recognize these cases early in order to prevent unnecessary treatments and implement appropriate behavioral interventions.

References

Jan 1, 1981·Gastroenterologia Japonica·A MisumiM Akagi
Oct 31, 2001·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·F CampeottoC Dupont
Mar 6, 2003·CNS Drugs·Elisabeth Dykens, Bhavik Shah
Oct 13, 2006·American Journal of Medical Genetics. Part a·David A StevensonAnn O Scheimann
Aug 2, 2007·Journal of Pediatric Gastroenterology and Nutrition·David A StevensonAnn Scheimann
Apr 21, 2010·Child Psychiatry and Human Development·Jessica R MorganTanya K Murphy
Apr 30, 2016·Archives of Pathology & Laboratory Medicine·Hwajeong LeeXiuli Liu
Oct 21, 2016·American Journal of Medical Genetics. Part a·Roxann Diez GrossRishi Maheshwary

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
hormone replacement therapy

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Advances in Internal Medicine
D A Ricci, R W McCallum
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
F CampeottoC Dupont
© 2022 Meta ULC. All rights reserved