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Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease
Maarten Janssen Lok1, Roxana Rassouli-Kirchmeier1, Nils Köster2
1Department of Surgery, Division of Paediatric Surgery, Radboudumc-Amalia Children's Hospital.
Insights
Nerve fibre diameter measurements are useful for diagnosing Hirschsprung disease (HD) after 8 weeks of age. While helpful, these findings do not replace histopathological confirmation of aganglionosis for definitive HD diagnosis.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Pathology
Background:
- Diagnosis of Hirschsprung disease (HD) relies on identifying thickened nerve fibers.
- Nerve fiber diameter <40 μm can be present in infants younger than 8 weeks with HD, creating diagnostic uncertainty.
- The age-dependent utility of nerve fiber diameter in HD diagnosis requires further investigation.
Purpose of the Study:
- To determine the change in maximum nerve fiber diameter in Hirschsprung disease (HD) patients.
- To compare nerve fiber diameters measured before and after 8 weeks of age in infants with HD.
Main Methods:
- Retrospective analysis of nerve fiber diameter in 20 infants with confirmed HD.
- Assessment of rectal suction biopsies (T1, <8 weeks) and resected bowel (T2, ~24.7 weeks).
- Comparison of the two thickest nerve fiber diameter recordings at T1 and T2 for each subject.
Main Results:
- In 65% of cases, nerve fiber diameters were ≥40 μm at both T1 and T2.
- 30% of subjects showed an increase in nerve trunk diameter to ≥40 μm by T2.
- By T2, 95% of subjects had nerve fiber diameter recordings ≥40 μm; one case remained <40 μm.
Conclusions:
- Nerve fiber measurements are associated with Hirschsprung disease diagnosis after 8 weeks of age.
- Measuring the two thickest nerve fibers can support HD diagnostic criteria beyond 8 weeks.
- These measurements are not superior to histopathological confirmation of aganglionosis for HD diagnosis.
Objectives:
Finding thickened nerve fibres is one of the key elements in the diagnosis of Hirschsprung disease (HD); however, its value at different ages remains uncertain. Nerve fibre diameters <40 μm can be observed in infants younger than 8 weeks, despite the presence of HD. The aim of this study was to identify a change in maximum nerve fibre diameter in HD patients, measured before and after 8 weeks of age.
Methods:
Nerve fibre diameter was retrospectively evaluated in tissue of 20 infants treated for definite HD. Rectal suction biopsies (RSBs) obtained within the first 8 weeks of life (T1) and resected bowel obtained during primary surgery at an average of 24.7 weeks (T2), were assessed. The 2 thickest nerve fibre diameter recordings at T1 and T2 were compared in each subject, to examine changes in nerve trunk diameter with increasing age.
Results:
In 13 cases (65%), nerve fibre diameters were ≥40 μm at T1 and T2. Six subjects (30%) had nerve trunk diameters <40 μm at T1; however, they experienced diameter increases to ≥40 μm by T2. Thus, at T2, 19 subjects (95%) had diameter recordings ≥40 μm. Nerve fibre diameter in the remaining case (5%) stayed consistent at <40 μm at T1 and T2, despite the presence of HD.
Conclusions:
After the first 8 weeks of life, nerve fibre measurements appear to be associated with HD. Measuring the 2 thickest nerve fibres can support typical HD diagnosis criteria beyond 8 weeks of age, but is not superior to histopathological confirmation of aganglionosis.
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