Evaluation & Management Of Hirschsprung's Disease
With Dr. Steven Kraus & Dr. Rodrigo Ocelami & Dr. Alberto Pena · hosted by Dr. Todd Ponsky · StayCurrentMD
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Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Fluoroscopy was done very well in the 1960s and 1970s when it was the primary modality, but with the advent of MRI, CT, and ultrasound, fluoroscopy has become almost a lost art.
Signs of Hirschsprung disease on plain abdominal radiographs of a newborn include transition zone, distal bowel obstruction, dilated colon, and bowel mucosal irregularities.
In a newborn, you cannot tell the difference between colon and small bowel on plain radiograph; you can only identify multiple dilated loops suggesting distal bowel obstruction.
The differential diagnosis for neonatal distal bowel obstruction appearance includes Hirschsprung disease, small left colon syndrome (meconium plug syndrome, immature colon), anorectal malformation, meconium ileus, and ileal atresia—these five entities make up about 99% of cases.
Seeing air in the rectum on plain radiograph does not rule out Hirschsprung disease.
The radiological diagnosis of enterocolitis is possible with a plain abdominal radiograph.
Air-fluid levels visible on cross-table or decubitus views in the colon are a sign of inflammatory process or enterocolitis.
Enterocolitis in a newborn should be considered Hirschsprung disease until proven otherwise.
The contrast enema in a newborn does not always allow making the diagnosis or ruling out Hirschsprung disease.
The false negative rate of contrast enema for detecting transition zone is between 20% and 25% according to multiple studies.
Total colonic Hirschsprung disease and short segment disease are particularly difficult diagnoses to make on enema, contributing to the false negative rate.
The false positive transition zone rate on enema is up to 43%.
Radiologist agreement on transition zone location is fairly high at 90%.
The concordance rate between radiology and pathology for transition zone location is only about 62% overall.
For short segment disease (rectosigmoid or low transition), the concordance between radiologic and pathologic transition zone is about 75%.
For long segment disease (descending colon, splenic flexure, or more proximal), the concordance between radiologic and pathologic transition zone is only about 25%.
If an enema shows a high transition zone, the actual pathologic transition could be anywhere, and repeat enemas will not reliably improve localization.
In patients with long segment disease, it is better to plan the operation assuming the transition may be high rather than relying on enema localization.
The technique for contrast enema involves inserting only a small part of the rectal tube (2-3 cm) into the rectum.
Never use a Foley catheter inside the rectum for contrast enema in suspected Hirschsprung disease.
In the neonatal period, use water-soluble contrast diluted 50% with saline.
Inject contrast very slowly and gently with a syringe under continuous fluoroscopy to avoid distending the aganglionic segment.
After the neonatal period, fill only up to the transverse colon; if the studied segment appears normal in distension, caliber, and mucosa, and the splenic flexure shows no suggestion of total colonic disease, stop at the transverse colon.
Obtain images in left lateral, right lateral, and AP positions, and remove the tube to visualize the rectum without obstruction.
The primary finding to look for is the transition zone; once found, the diagnosis is made and contrast administration can stop.
Inversion of the rectosigmoid index is a helpful sign in diagnosing Hirschsprung disease.
The aganglionic segment will appear spastic, which is why contrast should not be given in large amounts or too fast, or the spasticity will be missed.
Always counsel families about good hydration after the study and show them the contrast material so they know what to expect when the child evacuates it.
The main technical points are: never use a Foley in the rectum, inject contrast very slowly and gently under continuous fluoroscopy, and look for the diagnostic signs.
Dr. Kraus uses an iodinated water-soluble contrast with osmolality of about 400, which is hyperosmotic and helps clean the colon but can cause dehydration in neonates if it remains.
Dr. Kraus uses gravity infusion from a bag with large-bore tubing at a moderate pace rather than slow drip, to show distal and proximal segments quickly and visualize the transition zone rapidly.
Early maximal distention is the best time to see the transition zone, because waiting too long can allow distention of the distal aganglionic segment since it is soft tissue, not a rigid pipe.
If the colon in a neonate looks small, fill the entire colon and attempt reflux into the terminal ileum to evaluate for other diagnoses such as meconium ileus.
Dr. Kraus uses a 12-14 French Foley catheter in full-term neonates and smaller sizes in premature infants.
A true lateral image with femurs superimposed is essential to visualize the presacral space properly.
In a normal enema, the proximal colon toward the splenic flexure is always a little smaller than the rectum.
If a Foley catheter balloon is inflated in the distal rectum to prevent leakage, it will obscure very short segment Hirschsprung disease and cause a missed diagnosis.
Rectosigmoid transition zone cases (typical short segment Hirschsprung) are usually concordant between radiology and pathology.
In total colonic Hirschsprung disease, the rectum does not appear bigger than the rest of the colon as it should normally; the entire colon appears uniformly small.
In premature infants, the enema does not follow the usual rules; the colon can look uniformly small due to immaturity, making it difficult to distinguish from total colonic Hirschsprung.
Contrast enemas can be performed in premature infants as young as 35-36 weeks gestational age with reasonable diagnostic accuracy.
In infants younger than 35-36 weeks, when necrotizing enterocolitis becomes more prevalent, diagnostic accuracy of enema for Hirschsprung is reduced.
Small left colon syndrome typically has a transition at the splenic flexure that is very abrupt.
The rectosigmoid index (rectum larger than sigmoid) is a useful principle, but one should not stop there—examine all the way to the splenic flexure.
A case initially interpreted as small left colon based on abrupt splenic flexure transition and meconium plugs proved to be total colonic aganglionosis with transition in the terminal ileum.
When there is a proximal transition zone on enema, you cannot accurately predict where the pathologic transition will be; it may be much more proximal than the radiologic appearance suggests.
If a collection has unusual characteristics such as a proximal transition, consider a more invasive surgical approach (open or laparoscopic with intraoperative biopsies) rather than transanal pull-through, since the true transition location is uncertain.
Dr. Ponsky performs suction rectal biopsy in almost any patient who required a contrast enema to rule out distal obstruction, regardless of whether the enema suggests meconium plug, small left colon, or other diagnosis.
Dr. Pena would perform rectal biopsy in a case of apparent small left colon because he cannot distinguish it from Hirschsprung disease.
In the Soave procedure, partial-thickness dissection leaves a cuff of aganglionic tissue, which if prominent causes a widened presacral space visible on lateral enema view.
A true lateral view of the rectum is very important in post-surgical patients to assess the presacral space.
The Duhamel procedure creates a chimera of aganglionic distal segment with ganglionic proximal segment in a patchwork fashion, not side-to-side or end-to-end.
In symptomatic Duhamel patients, an anterior pouch is visible on enema, often containing stool; enlargement of this pouch compresses the ganglionic bowel and causes obstruction.
Dr. Pena questions whether patients who develop the characteristic dilated Duhamel pouch actually had true Hirschsprung disease, since by definition aganglionic bowel should not distend even after 10-15 years.
Dr. Pena recommends that when resecting a Duhamel pouch, the specimen should be oriented and the pathologist alerted to determine whether ganglion cells are present in the rectal portion, to test the hypothesis that these were misdiagnosed cases.
Dr. Collins reports that the Duhamel pouches she has examined pathologically have contained both ganglionic and aganglionic parts.
Dr. Pena states that if he sees a patient with megacolon and constipation on enema, he will not perform a rectal biopsy because it is a waste of time from his point of view.
Dr. Pena argues that taking a biopsy in a patient with idiopathic constipation risks getting an aganglionic result that does not mean anything, because the patient does not have Hirschsprung disease.
There is a normal physiologic aganglionic segment in the distal rectum, but its length at different ages (preterm, term, 6 months) has never been accurately determined in humans.
Someone could take a biopsy in the normal physiologic aganglionic area and get a result of no ganglion cells, which does not indicate Hirschsprung disease.