1. Hirschsprung’s disease : problems with false –negative biopsies
Yasmine Houas, Yosra Kerkeni, Sondes Sahli,Fatma Fitouri,Nada Sghairoun,Manef Gasmi ,Mourad Hamzaoui
Pediatric surgery department “A”, Children Hospital , Tunis , Tunisia

2. Introduction The diagnosis of Hirschsprung ‘s disease (HD) :
* Clinical manifestations
*Radiological findings
*Manometry
* Biopsy

3. Introduction Patients who clinically ressemble HD with
quite similar histological findings

4. Aim of the study To report cases misdiagnosed preoperatively with a HD
Individual patient analysis and strategy of management will
be discussed.

5. Between the 1st of January 2011 and the 30th of June 2016
Methods
A retrospective study
Between the 1st of January 2011 and the 30th of
June 2016
The sex
The age
The revealing symptoms
The result of the histology
the findings during surgery
The follow-up

6. Methods: Same histopathologist Standard H & E staining
Rapid cholinesterase staining was not available
Rectal suction biopsy
3, 5cm above the dentate line

7. Results
Three patients were misdiagnosed preoperatively with a HD

8. Case one Male infant 16 months old
First meconium bowel within the first 24 hours
Chronic constipation : one bowel movement per week
Contrast enema : transition zone in the rectosigmoid region

9. Case one
Manometry not performed
Rectal suction biopsy : absence of ganglion cells in the colonic submucosa
Transanal pull-through
Histopathological findings : presence of ganglion cells in the whole colon resected

10. Case one
Still suffering from constipation partially improved with laxatives
Contrast enema
Final diagnosis is yet to establish

11. Case two Rectal suction biopsies Male infant
Neonatal intestinal obstruction
Bowel decompression not possible with high bowel wash
Surgery : transition zone at the splenic flexure
right loop colostomy
First : Low number of ganglion cells
Second: absence of ganglion cells
Rectal suction biopsies

12. Case two Surgery : staged full-thickness biopsies
presence of ganglion cells
closure of the stoma
Patient is doing well
Final histopathological findings : hypoganglionosis

13. Case three Rectal suction biopsy : absence of ganglion cells
Male infant
Neonatal intestinal obstruction
Bowel decompression not possible with high bowel wash
Surgery : transition zone at the splenic flexure
right loop colostomy
Rectal suction biopsy : absence of ganglion cells

14. Case three
Surgery multiple staged biopsies : presence of ganglion cells
colonic atresia
Resection of the atretic portion of the colon
closure of the stoma

15. Discussion High sensitivity 93 % of Rectal suction biopsy*
High specificity 98 %
*Rectal suction biopsy for the diagnosis of Hirschsprung's disease: a systematic review of diagnostic accuracy and complications. Friedmacher F, Puri P,Pediatric surgery Int Sep;31(9):821-30

16. Problems with Rectal suction biopsy for HD Variants of HD and pitfalls
Intestinal neuronal dysplasia
Hypoganglionosis
Internal anal sphincter neurogenic
achalasia
Smooth muscle disorders
Immature ganglia
Too superficial ( ganglion cells in the deep parts of the submucosa)
Physiologic hypoganglionosis ( less than 3cm of the dentate line)
Degree of experience of histopathologist
Calretenin vs.Acetylcholinesterase
Age (immature cells neonate )
Technical problems
Variants of HD and pitfalls

17. To conclude
Errors in reading rectal biopsies in HD are rare but can have significant results in children.
New methods, such as calretinin staining, must be considered to achieve better effectiveness of the RSB for diagnosing HD.
Special attention must be given to intestinal dysganglionoses that can mimic a HD