The pseudolesion at the right parafissural side in the liver contains more collagen compared to the control left side, while there is no difference in fat or glycogen content or number of portal and hepatic veins. Collagen may be the cause of the pseudolesion.

Using 40 µm as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.

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.

No abstract