Hirschsprung Disease: Pathology Aspect
With Dr. Dr. Collins & Dr. Dr. Pena (Alberto) & Dr. Dr. Raj Kapoor & Dr. Dr. Reyes (Miguel) · StayCurrentMD
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
Ganglion cells are present in the rectal submucosa at 28 weeks gestation normally, though they may not look like mature ganglion cells
An experienced pediatric pathologist will be able to recognize immature ganglion cells at 28 weeks gestation
Suction rectal biopsies to rule out Hirschsprung's disease on 28 week gestation newborns are extremely rare
The suction rectal biopsy is diagnostic and can be diagnostic for a patient of any age
The failure rate for suction rectal biopsy increases after one year of age
Beyond infancy, there is increased separation of the ganglia as a result of the growth of the baby
There is increased toughness of the stroma after infancy, making it more difficult to obtain a good suction rectal biopsy
The anal canal becomes longer and thicker with age, contributing to suction biopsy failure
It is not a good idea to base an entire surgical procedure on the frozen section of a biopsy obtained intraoperatively
When making a diagnosis of Hirschsprung disease on suction rectal biopsy, the pathologist is committing that child to losing at least some rectum
If a suction rectal biopsy confidently shows no ganglion cells and a peritoneal reflection biopsy shows ganglion cells, the patient still has short segment disease
Large nerves are not present in the submucosa of all cases of Hirschsprung disease
Total colonic aganglionosis is a classic example where large nerves may not be present in the submucosa
Nerve hypertrophy may be less apparent in the very young as well as in older children
Calretinin immunoreactivity or acetylcholinesterase staining fitting with Hirschsprung disease pattern can be enough to make the diagnosis even without hypertrophic nerves
In a young infant under 6 months of age, you shouldn't see in the distal rectum nerves greater than 40 microns in diameter
The 40 micron rule for nerve diameter does not hold in older age children
Transition zone contains ganglion cells, but they're not in their normal distribution completely in the circumference of the bowel
There is hypoganglionosis by definition in transition zone
Hypertrophic nerves in transition zone can be evaluated more in the submucosa than in the myenteric plexus
Submucosal hyperganglionosis with at least 10 ganglion cells in one ganglion is a feature of transition zone
Ectopic ganglion cells can be present in normal biopsies and normally innervated bowels
If calretinin stain is positive proximal to an aganglionic segment, showing nerve twigs in the lamina propria, that's a sign that there are ganglion cells even if they are not present in that particular section
15 micron thick sections are required for IND diagnosis in Europe, which is at least 3 times the thickness of normal sections cut in the United States
The histochemical stains used for IND diagnosis in Europe are not commonly used in the United States
There have been inconsistent diagnostic criteria for IND, with definitions changing several times over the last several decades
IND diagnosis lacks adequate control data from age-matched children who are not constipated
The recommendation is that IND diagnosis should not be made in infants
IND is outgrown by the age of 4 years
IND is not a disorder that requires surgical therapy and is self-correcting
There is not a single topographic study of neuronal intestinal dysplasia describing the extension of the defect
The best way to diagnose hypoganglionosis is to only consider the myenteric ganglion cell density, which means dealing with resected bowel, not just a suction biopsy
Currently only severe hypoganglionosis is confidently diagnosed, based on long stretches of myenteric plexus containing small ganglia with one or two ganglion cells per ganglion with minimal neuropil