Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation?

Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and impaired vision. Patients with Usher syndrome type 1C have a germline mutation in AIE-75/harmonin. This AIE- 75/harmonin binds to MCC2, homologue to MCC (mutated in colon cancer; MCC1) and is a possible tumor suppressor. Expression of AIE-75/harmonin suppresses growth of human colorectal adenocarcinoma SW480 cells. We report a case of a young woman with Usher syndrome and a colorectal adeno-carcinoma. A 27-year-old dark skinned woman with Usher syndrome presented at the emergency department with acute excessive fresh red rectal blood loss mixed with older brownish blood. She felt dizzy and sweaty, with tendency to lose consciousness. In the recent past, she suffered from abdominal pain, hot flushes (sometimes fever), excessive sweating at night and diarrhea (sometimes with blood loss) often accompanied with joint pain. There is no history of weight loss. There are no urologic or gynecological abnormality's. Menstruation is regular due to oral contra- ception. She has no cardiothoracic complains. Because of Usher syndrome she is deaf and has an impaired sight. Two years ago the general practitioner diagnosed her with anemia.