This document discusses the case of a 2-month-old baby girl presenting with vomiting, abdominal distension, and failure to pass meconium. Imaging showed dilated bowel loops. A barium enema suggested Hirschsprung's disease or constipation. Biopsies during exploratory surgery confirmed Hirschsprung's disease. The baby later underwent a Soave endorectal pull-through procedure to correct the condition. The document also reviews the differential diagnosis, diagnostic testing, molecular basis, surgical treatment options, and postoperative management of Hirschsprung's disease.

2.  Case History along with hospital course
 Differentials
 Treatment options
 Pertinent basic science review
 Review of literature regarding different treatment
options

3.  2 month old baby girl born on 15th June, 2013
 Antenatal course normal with no abnormality on
anomaly scans
 General physical exam at birth- Normal
 Systemic exam- Normal at birth except for a murmur
which after echocardiogram turned out to be PFO 3
mm

4.  History of vomiting after first feed and abdominal
distention
 Meconium passed 48 hours later after rectal
stimulation
 Baby appeared toxic for which work up for sepsis was
also done- all cultures came out negative
 Physical examination on the second day of life was
significant for abdominal distention

5.  Abdominal X ray- 16th June, 2013
 Barium enema study- 18th June, 2013
 Baby gram and US KUB done- 18th June, 2013 (Normal)

8.  Abdominal X ray 16th June, 2013
 Dilated bowel loops
 No air in the rectum
 Multiple air fluid levels

12.  Barium enema single contrast study- 18th June, 2013
 Moderate distension of large bowel without definite
haustral pattern
 May represent distal segment Hirschsprung disease
 Findings can also be seen in constipation and myxdema

13. Diagnosis Frequency Abnormal
findings
Therapy
Hirschsprung
Disease
1/4000 Tight anus, empty
rectum, transition
zone
Surgery
Meconium plug
syndrome
1/500-1/1000 Meconium plugs Rectal stimulation,
enema
Meconium ileus 1/2800 Abdominal
distension at birth,
cystic fibrosis
Enema with IV
fluids, Surgery
Anorectal
Malformation
1/4000-1/8000 Absent anus, tight
anus or fistula
Dilation, Surgery
Small left colon
syndrome
Rare Transition zone at
splenic flexure
Enema, colostomy
Hypoganglionosis Rare Transition zone Medical, TPN.
Surgery

14.  5 th day of life the baby was planned for rectal biopsy,
exploratory laprotomy, and frozen sections at different
levels of the large bowel
 Leveling colostomy done at the level of splenic flexure
 Diagnosis of Hirschsprung confirmed after frozen
sections

15. Ganglionic
cells
present
Ganglionic
cells absent
Ganglionic
cells
present

16.  Admitted again on 14th August 2013 for correction
procedure
 Underwent Soave endorectal pull through after pre
operative assessment
 Post operative management plan
 IV analgesics
 IV fluids
 IV antibiotics
 TPN
 NO rectal medication

17.  Dr Orvar Swenson
 “Congenital megacolon is caused by a malformation in the
pelvic parasympathetic system which results in the absence
of ganglion cells in Auerbach’s plexus of a segment of distal
colon . Not only there is an absence of ganglion cells, but the
nerve fibers are large and excessive in number, indicating
that the anomaly may be more extensive than the absence of
ganglion cells”

20.  Defect in the migration of neural crest cells
 Most cases of aganglionosis involve the rectum and
rectosigmoid. Why?
 Molecular basis of Hirschsprung disease;
 Increased frequency of mutations in several genes,
including GDNF, its receptor Ret, and its co-receptor
Gfra-1.

21.  Abdominal distention, failure to pass meconium and
bilious emesis
 Infant who has not passed meconium for 48 hours
 ENTEROCOLITIS- A dramatic complication of
Hirschsprung disease

22.  Definitive- Rectal biopsy
 Histopathological features
 Absence of ganglion cells in myenteric plexus
 Increased acetylcholinesterase staining
 Hypertrophied nerve bundles
 Barium enema in suspected cases
 Rectal manometry- results relatively inaccurate

25.  Surgery is all cases
 Classic approach- Multi staged procedure
 Three different surgeries but outcome after each type
of operation is similar- SCHWARTZ
 Primary pull through procedure can be safely
performed aswell
 Advantage of Soave over other procedures- less danger
of damaging the parasympathetic nerves adjacent to
the rectum

27.  Leaves the rectum in place and brings ganglionic
bowel into the retrorectal space

28.  Resection with end to end anastamosis performed by
exteriorizing bowel ends through the anus

29.  Endorectal dissection performed and mucosa removed
from the aganglionic distal segment. The ganglionic
bowel is then brought down to the anus with in the
seromuscular tunnel

30.  Performing the intra abdominal dissection using a
laparoscope- Are there any advantages over open
dissection?