Patients with severe autosomal recessive (or simplex) RP who lack the finding of PPRPE should not be excluded from molecular analysis of CRB1 purely because they lack the clinical feature of PPRPE. This report illustrates that RP at the RP12 locus is not clinically uniform. The absence of PPRPE cannot be used to exclude CRB1 as a potential molecular explanation for RP.

Our purpose was to determine the diagnostic utility of enteroclysis in the evaluation of obscure gastrointestinal bleeding and abdominal pain of unknown etiology. This is a retrospective review of 97 consecutive patients (mean age, 54.1+/-17.5 [SD] years; 49 male and 48 female) who underwent enteroclysis at Temple University Hospital from January 1994 to October 2001 for the evaluation of obscure GI bleeding or chronic abdominal pain of undetermined etiology. Prior to enteroclysis all patients had an EGD and colonoscopy, which were nondiagnostic for their symptoms. Sixty-three patients (64.9%) had enteroscopy performed prior to enteroclysis that was also negative. Enteroclysis results were defined as positive based on anatomical or functional abnormalities. Analysis of the data included the percentage yield of positive exams, the percentage of positive results per symptom category, and the percentage of patients with a change in clinical management based on positive enteroclysis results. Ninety-seven patients underwent enteroclysis. The indications for enteroclysis were obscure GI bleeding in 67 patients (69.1%) and chronic abdominal pain in 30 patients (30.9%). The number of positive exams was 19 (19.6%). Fourteen of the 67 patients with the indication of GI bleeding had a positive exam (21%), while 5 of the 30 patients with chronic abdominal pain had a positive result (16.7%). There was a change in clinical management due to the enteroclysis results in 10 patients: 7 patients with GI bleeding (10%) and 3 patients with chronic abdominal pain (10%). Positive enteroclysis findings included adhesions (7), filling defects and masses (5), strictures (2), small bowel diverticulosis (1), mucosal abnormalities (3), and a motility disorder (1). The overall positive yield for enteroclysis was 19.6%, with a yield of 16.7% for chronic abdominal pain and 21% for gastrointestinal bleeding. Enteroclysis results changed the clinical management in approximately 10% of the patients.

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