Combining high resolution ultrasound and tissue characterizing spectroscopy, pave the way for a novel and safer platform for diagnosing children with Hirschsprung´s disease and anorectal malformations

Hirschsprung´s disease (HD) is a congenital disease characterized by the lack of nerve cells in bowel wall (aganglionosis), commonly in rectum and adjacent colon. It is a rare disease, but it is a life-threatening condition. The incidence in newborns is 1:5000, but ten times more children are under investigation of having the disease.

The current diagnosis procedure includes a pre-operative contrast-enhanced x-ray examination followed by rectal bowel wall biopsy.

If HD is confirmed, surgery with intestinal biopsies is required to determine how much of the intestine needs to be removed. A time-consuming procedure performed under anesthesia. A safer method, without biopsies and ionizing radiation and a reduced anesthesia time is desirable. The projects aim is to instead use high-resolution ultrasound in combination with optics to diagnose HD.

Together with specialists at the Department of Pediatric surgery, high-resolution ultrasound and tissue characterizing spectroscopy will be used to examine children under investigation for HD.

Custom made computer programs will be developed to analyze the data and find objective parameters, both for ultrasound and optics, which can delineate aganglionic from normal bowel. The findings will be confirmed with histopathology.

When the method is set, two multiparametric measurement probes, specially designed for small children use, will be developed and will serve as a real-time non-invasive histology method to confirm/reject aganglionosis.