CASE 2147 Published on 14.04.2004

Small bowel involvement with cystic fibrosis

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

McKenna E, Paterson A, Sweeney LE

Patient

15 years, male

Clinical History
Increasing abdominal pain in an adolescent male with a known history of cystic fibrosis.
Imaging Findings
An adolescent male, with a known diagnosis of cystic fibrosis, complained of a one-week history of increasing abdominal pain.
An ultrasound scan of his abdomen was performed: no small bowel intussusception was demonstrated. A small bowel series was requested.
Discussion
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in white populations. Pulmonary disease is the predominant cause of morbidity and death in CF patients but gastrointestinal (GI) manifestations are also important features in the clinical expression of CF. GI symptoms most commonly suggest the diagnosis of CF in infants and children, and intestinal obstruction may be present at birth due to meconium ileus.
The pathological and radiological features of CF are closely linked to the accumulation of viscous glandular secretions within hollow organs and solid organ ducts. As the patient ages, the incidence of pancreatic and hepatobiliary disease increases.
The protean gastrointestinal expressions of CF have assumed increasing clinical importance as patient survival has dramatically improved.
Duodenal abnormalities are found in just over 80% of patients with CF. Radiographic findings are most prominent in the first and second parts of the duodenum. Thickening of the mucosal folds, nodular indentations, smudging or poor definition of the mucosal fold pattern, and redundancy and distortion of the duodenal loop can be recognised on upper GI contrast studies. Small bowel involvement, as demonstrated in this case, occurs much less frequently, and primarily causes thickening of the mucosal folds in the proximal jejunum and occasionally jejunal dilatation. Similar radiographic changes may be found in the ileum. The differential diagnosis of small bowel thickening includes Crohns,lymphoma,TB/Yersinia,lymphangiectasia, eosinophillic enteritis or Henoch Schonlein purpura.

Possible aetiological factors to explain the small bowel abnormalities in CF include hypertrophy of Brunner's glands and production of abnormal mucus. Recently, an increased risk of carcinoma of the digestive tract has been established in a retrospective cohort study of over 38,000 patients with CF. The investigative pathway for abdominal pain in CF patients should be guided by a careful history and examination because as stated above there are numerous possible aetiologies:

- AXR: to exclude DIOS (distal intestinal obstruction) and bowel wall oedema that may accompany fibrosing colonopathy, SBO from adhesions from previous surgery, intussusception;
- US abdomen: intussusception, gallstones, biliary sludge, fatty liver, cirrhosis, portal hypertension and its consequences;
- upper GI study/small bowel series: malabsorption, duodenal ulceration, GOR, tumours, fibrosing colonopathy (if contrast followed round into the colon);
- contrast enema: if fibrosing colonopathy suspected, for symptomatic relief of DIOS, if colonic neoplasia suspected (colonoscopy also has a role in fibrosing colonopathy and suspected neoplasia);
- CT is rarely indicated ( as dose is an important issue in these patients who often undergo frequent investigations), but may help if there are cases of prolonged, unexplained abdominal pain - remembering that CF patients get other abdominal pathology too, unrelated to their CF;
- MRI: most useful in the investigation of biliary disease (ie MRCP) and also in cases of portal hypertension (to investigate PS shunts etc).
Differential Diagnosis List
Small bowel disease in cystic fibrosis
Final Diagnosis
Small bowel disease in cystic fibrosis
Case information
URL: https://www.eurorad.org/case/2147
DOI: 10.1594/EURORAD/CASE.2147
ISSN: 1563-4086