Constipation in children with neurofibromatosis type 1
Abstract
Background and objectives Neurofibromatosis type 1 (NF1) is a hereditary, heterogenic, and multiorganic disease. The NF1 phenotype shows great variability in expressivity and often includes symptoms from the central and peripheral nervous systems. Bowel symptoms have been reported, but gastrointestinal function in NF1 remains to be described in detail. In this first systematic study of bowel function in children with NF1, we aimed to investigate symptoms of constipation and test the hypotheses that children with NF1 have abnormally large rectum and prolonged colonic transit time (CTT). Methods A total of 20 children with NF1 (age 8.2 ± 2.4 years) were evaluated with medical history; clinical examination; digital rectal examination; bowel and dietary diaries; Rome III criteria; measurement of rectal diameter by transabdominal ultrasound; and radiographic estimation of CTT. The control group for assessment of rectal diameter comprised 23 healthy children (mean age 9.1 ± 2.7 years). Results A total of 6 children with NF1 (30%) were constipated according to Rome III criteria. Average rectal diameter was significantly larger than for healthy children (32.9 ± 7.2 mm vs 21.4 ± 5.9 mm, P 84 hours) in 3 (19%). Conclusions Symptoms of constipation were surprisingly common in children with NF1. Correspondingly, rectal diameters were abnormally large and a higher proportion than expected had prolonged CTT. The underlying pathophysiology remains obscure, but we hypothesise that abnormalit…
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Constipation is frequent in children with neurofibromatosis type 1 and can be associated with increased rectal diameter and prolonged colonic transit.
“Constipation is frequent in children with neurofibromatosis type 1 (NF1) and can be associated with increased rectal diameter and prolonged colonic transit (Pedersen et al., 2013).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Pedersen et al., 2013
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- Authors
- Pedersen, C. E., Krogh, K., Siggaard, C., Joensson, I. M., & Haagerup, A.
- Affiliations
- Aarhus University Hospital (DK)
- Corresponding author
- Pedersen, Cecilie E.
- Haagerup, Annette
- ORCID
- Krogh, Klaus
- Venue
- Journal of Pediatric Gastroenterology and Nutrition
- Publisher
- Wiley
- Published
- 2013-02
- Volume
- 56
- Issue
- 2
- Pages
- 229-232
- ISSN
- 0277-2116 (ISSN-L)
- 1536-4801
- OpenAlex
- W2010744972
- Cited by
- 11
- References
- 21
- Citations by year
- 2026: 2 · 2021: 2 · 2020: 1 · 2019: 1 · 2017: 2 · 2016: 1 · 2014: 2
- FWCI
- 0.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Gastroenterology and Nutrition (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
- Keywords
- neurofibromatosis type 1, constipation, colonic transit time, rectal diameter, bowel function, children, Rome III criteria, transabdominal ultrasound, enteric nervous system, gastrointestinal symptoms
- MeSH terms
- Child, Colon, Constipation, Female, Gastrointestinal Transit, Humans, Male, Neurofibromatosis 1, Rectum
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