| Phenotype details |
58-year-old female seen in the Genetics Clinic at the University of Kansas Medical Center for discomfort in the upper quadrant of her abdomen, irritable bowel syndrome (IBS), and a history of surgical repair during the past two years due to a spontaneous transverse colon perforation without diverticulosis and a positive family history of colon perforation. She had no history of Hirschsprung’s disease or megacolon prior to colon perforation. She had a previous history of abdominal pain and discomfort as a young child and IBS, fibromyalgia, and Raynaud’s phenomenon since 18 years of age. Other review of systems was normal. The family history showed her maternal grandmother dying at 40 years of age from an unknown cause possibly involving the female reproductive tract. Her mother had a perforated colon at age 78 years and the surgical repair was attempted with some success but died two years later from poor healing and leakage from the intestine. Her 53-year-old sister had a colon resection due to imminent perforation and is under surveillance. Her 61-year-old sister had a perforation of the colon with colostomy and is under surveillance. Her maternal niece had a colon perforation age 31 years of age and is under current surveillance. Her first cousin (her mother’s brother’s son) was diagnosed with a perforation of the colon at six years of age and has a colostomy. Hence, there are six affected individuals including both sexes having had a perforation of the colon and/or surgical procedures performed due to an imminent risk of colon perforation. |
