Constipation in children with neurofibromatosis type 1
Cecilie E Pedersen1, Klaus Krogh, Charlotte Siggaard
1Department of Paediatrics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark. cecilie@ejerskov.dkorannehaag@rm.dk
Journal of Pediatric Gastroenterology and Nutrition
|August 1, 2012
Summary
Constipation is common in children with Neurofibromatosis type 1 (NF1). Studies show NF1 patients have larger rectums and prolonged colonic transit time (CTT), suggesting underlying gastrointestinal dysfunction.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Neurology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with varied symptoms, often affecting the nervous system.
- Gastrointestinal issues in NF1 are understudied, particularly bowel function in children.
- Previous reports suggest bowel symptoms, but detailed analysis is lacking.
Purpose of the Study:
- To systematically investigate bowel function in children with NF1.
- To determine the prevalence of constipation in pediatric NF1 cases.
- To test if NF1 is associated with enlarged rectal diameter and prolonged colonic transit time (CTT).
Main Methods:
- Evaluated 20 children with NF1 using medical history, clinical exams, and Rome III criteria.
- Measured rectal diameter via transabdominal ultrasound, comparing with 23 healthy controls.
- Assessed colonic transit time (CTT) using radiographic methods.
Main Results:
- 30% of NF1 children met Rome III criteria for constipation.
- NF1 patients exhibited significantly larger rectal diameters (32.9 mm) than controls (21.4 mm).
- Median CTT was 53 hours, with 19% showing prolonged transit (>84 hours).
Conclusions:
- Constipation is unexpectedly frequent in children with NF1.
- Abnormally large rectal dimensions and prolonged CTT were observed in NF1 patients.
- Pathophysiology is unclear, potentially involving the enteric nervous system or cellular growth abnormalities.
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