Caleb B. Hudspath, DO1, Kyler Kozacek, DO2, Pedro Manibusan, DO, MBA2
1Walter Reed National Military Medical Center, Honolulu, HI; 2Tripler Army Medical Center, Honolulu, HI
Introduction: Beckwith-Wiedemann syndrome is a congenital growth disorder characterized by macrosomia, organomegaly, abdominal wall defects, and a predisposition for tumor development. The clinical manifestations are caused by epigenetic alterations on chromosome 11p15.5, which encodes tumor protein p57. This protein serves many critical cellular functions to include cell proliferation, differentiation, and apoptosis. Genetic linkage studies have provided strong evidence for the development of inflammatory bowel disease (IBD). Chromosome 11p has been described as a possible IBD loci with susceptible genes. We present the first reported case of a patient with Beckwith-Wiedemann syndrome and Crohn’s disease.
Case Description/Methods: A 30 year old female with Beckwith-Wiedemann syndrome and a history of Crohn’s disease presented for initial establishment of care. She was diagnosed at age 23 after having symptoms of diarrhea and severe abdominal pain. Her treatment history consisted of mesalamine, mercaptopurine, and most recently infliximab. Infliximab was started after colonoscopy showed active colitis within the ascending, transverse, descending, and terminal ileum. Her complications from Beckwith-Wiedemann syndrome consisted of macroglossia resulting in obstructive sleep apnea. At her six-month follow up the patient had improvement in symptoms and no evidence of active colitis or ileitis.
Discussion: Genetic associations with IBD have been well studied and indicated a strong basis for the development of IBD. Chromosome 11p has been investigated in a genomic-wide linkage study in Finnish IBD families which reported it as a susceptible loci for IBD. Tumor protein p57, located on chromosome 11p, and its interaction with the well known p53 family has yet to be fully described. This could be an area of further research. Transcription factors within the p53 family have been well studied for their expression within IBD, gastric, esophageal, and colon cancer. The mechanism between chromosome 11p and the development of IBD has not yet been defined. This case involved a patient with a known genetic mutation that has been recently linked to the development of IBD.
Citation: Caleb B. Hudspath, DO; Kyler Kozacek, DO; Pedro Manibusan, DO, MBA. P1436 - BECKWITH-WIEDEMANN SYNDROME AND THE ASSOCIATION WITH CROHN'S DISEASE. Program No. P1436. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.