A well detailed and easy to understand presentation made by me on Hirschsprungs using Uptodate information

1. HIRSCHSPRUNGS
DISEASE
ARYLIC ASHKAY SINGH
MBBS 5
PAEDIATRICS ROTATION
PRESENTATION 1

2.  The first ever case was identified in 1691 and in 1886 Harald Hirschsprung defined the disease.
 Hirschsprung disease (HD) is a motor disorder of the gut, which is caused by the failure of neural crest cells to
migrate completely during intestinal development. The resulting aganglionic segment of the colon fails to relax,
causing a functional obstruction.
Types Classical short segment HD
(75%) – Rectosigmoid
Long Segment HD ( 20%)
Total Colonic Aganglioniosis
(3-12%)
Total Intestinal
Aganglioniosis
Internal Anal Sphicter
achalasia (Ultra Short
Segment HD)

3.  Hirschsprung disease (HD) occurs in approximately 1 in 5000 live births with an overall male:female ratio
of 3:1 to 4:1; when the entire colon is involved, the gender ratio more nearly approaches 1:1
 Affects all races - 3 x more common in Asian Americans
 90% diagnosed during newborn period

4. ENTERIC NERVOUS SYSTEM (ENS)
Submucosal (Meissner) Plexus
Myenteric (Auerbach) Plexus
Mucosal Plexus
Role in the absorption, secretion,
motility, blood flow and regulation of
function
• Neural crest cells migrate to form the
enteric ganglion cells
• Neuroblast in esophagus by 5th week
• In Small intestines by 7th week
• In colons by the 12th week
• Extrinsic neural afferents to the ENS
contain cholinergic and adrenergic fibers.
The cholinergic fibers are inhibitory
whereas the adrenergic fibers are
excitatory.

5. Arrested or
abnormal
neuroblast
migration in
the GIT
Absent
Myenteric
and
Submucosal
Plexus
Extrinsic
Control
Adrenergic
(Excitatory
dominate )
Fibers of
Vagus nerve
Increase in
Unopposed
SM tone
1. Decrease
Motility
2. Lack of
Propagation of
peristaltic wave
3. Abnormal
absent
relaxation of
segment and
internal anal
sphincter
Functional
obstruction

6.  RET is necessary for migration, survival,
proliferation, and differentiation of the
neural crest-derived cells that give rise to
the enteric nervous system.
 The strong association between trisomy 21
(Down syndrome) and HD may be partly
explained by mutations in the Down
Syndrome Cell Adhesion Molecule gene
(DSCAM, MIM *602523
 DVL 1 and DVL 3 genes, GDNF, GFR-alpha,
NRTN, EDWEB, ET3, ZFHX1B, PHOX25, SOX10,
SHH
ETIOLOGY
Defect in
craniocaudal
migration of
neuroblast
from neural
crest
Associated
Congenital
Anomalies
Fibronectin,
laminin, Neural
cell adhesion
molecules and
neurotrophic
factors absent
Cells of Cajal -
Pacemaker
cells
connecting
ENS to SM
Genetic
mutation Atleast
12 have been
identified
RET
Protooncogene –
Main
Apoptosis,
failure to
proliferate,
differentiation

7.  Trisomy 21 (Down syndrome) – Down syndrome is present in 2
– 16 % of individuals with HD.
 Bardet-Biedl syndrome (BBS) - genetic disorder characterized
principally by obesity, retinitis pigmentosa, polydactyly,
hypogonadism, and renal failure in some cases.
 Cartilage-hair hypoplasia – This is a rare syndrome. often
present with enterocolitis.
 Congenital central hypoventilation syndrome (CCHS).
 Multiple endocrine neoplasia type 2 (MEN2).
 Mowat-Wilson syndrome (MWS) Approximately 50 % of
individuals with MWS have HD
 Smith-Lemli-Opitz syndrome.
 Waardenburg syndrome –nearly 100 % have HD.

8.  Genitourinary anomalies – Congenital anomalies of the kidney and urinary tract (CAKUT) – 20%
 Visual impairment –40 % of individuals with HD.
 Hearing impairment - 5 % of individuals with HD
 Congenital heart disease –about 50 % of individuals with syndromic HD (usually Down syndrome) .
 Anorectal malformations – HD may also occur in association with anorectal malformations (ARM).
 Gastrointestinal malformations (Intestinal atresia, duplication cysts, or malrotation)
 Meconium ileus due to cystic fibrosis
 Meconium plug syndrome, a condition that occurs in up to 1:500 newborns and is due to colonic dysmotility
 Small left colon syndrome, in infants of diabetic mothers, due to transient left colon dysmotility, leading to
delayed passage of stool
 Anorectal anomalies
 Hypothyroidism
 Irritable bowel syndrome
 Toxic Megacolon

9. CLINICAL FEATURES
Clinical Features
NEW BORNS
- Delayed passage
of meconium > 48
hours
- Abdominal
distention that is
relived by rectal
stimulation (Squirt
sign) or emesis
- Bilious vomiting
- Enterocolitis
presentation
OLDER CHILDREN
- Severe
constipation
- Chronic
Abdominal
distention
- Bilious Vomiting
- Failure to thrive
ADULTHOOD
- Uncommon but
can be newly
diagnosed
- Abdominal
distension
- Long history of
refractory
constipation
without fecal
incontinence
HAEC
- Abdominal
distention
- Foul smelling
explosive diarrhea
- Bilious Vomiting
-Fever
- Lethargy
- Rectal Bleeding
- Shock
- Signs of
perforation
A high index of suspicion is
appropriate for infants with a
predisposing condition such as
Down syndrome, or for those
with a family history of HD

10. INDICATIONS FOR INVESTIGATIONS
 Suspected Hirschsprung Associated Enterocolitis
 Suspected Hirschsprung disease
1. Failure to pass meconium within 48 hours of birth.
2. Constipation and trisomy 21 (Down syndrome) or other condition known to be associated with HD, or a
family history of HD.
3. Constipation and physical examination suggestive of HD (abdominal distension, tight anal sphincter, or
squirt sign on digital examination).
4. A moderate level of suspicion for HD is warranted for neonates with a well-documented moderate delay in
passing meconium (>48 hours but <72 hours) but no other symptoms (no abdominal distension, vomiting, or
feeding problems). R/O - anorectal malformations
5. For older infants and toddlers with chronic refractory constipation (ages six months to three years).

11.  Rectal biopsy is considered the gold
standard for diagnosis and may be
supported by findings on abdominal
radiographs, contrast enema, or
anorectal manometry.
PLAIN ABDOMINAL XRAY AND CONTRAST
ENEMA
Distended bowel
loops with absence
of air In rectum
Narrowed distal colon
and rectum with
proximal dilatation
Transition zone

12. Reduced caliber and
length of large bowel
with no clear TZ
-TCA
Dilatation of small
bowel with no gas
in rectum
Reduced caliber of
rectum, transition
zone to enlarged
Sigmoid colon
 Multiple loops of dilated small bowels with air fluid levels
 Empty rectum
 Dilated proximal colon and narrow distal colon (Cut of sign )
 Rectum to sigmoid ratio <1 = HD
 Enema – Sensitivity = 76% Specificity = 97%
 Transition zone 25% not demonstrated in neonates

13. ANORECTAL MANOMETRY
 Helpful in patients with ultrashort segment disease.
 Detects the relaxation reflex of the internal sphincter after
distention of the rectum lumen which is absent in HD.
 Anorectal manometry has a positive predictive value that is
reported to be 75 to 95 percent, but is less accurate in infants
younger than one month of age and those with longstanding
chronic constipation.
RECTAL BIOPSY
 FULLTHICKNESS RECTAL BIOPSY
- Definitive diagnosis
- Demonstrate absence of ganglionic cell
- S/E – bleeding, sedation, scaring
 SUCTION RECTAL BIOPSY
- Histology test which is done bedside
- Suction and excision with built in blade without anesthesia
- Findings - Hypertrophied nerve trunk throughout the lamina
propria and muscularis propria.

14. MEDICAL CARE
AIM:
1. Tx of manifestation and
complication of untreated HD
2. Institute temporizing measures
until surgery
3. Manage post-op bowel function
PRE-OP: Iv fluid resuscitation and maintenance
Nasogastric Decompression
Iv antibiotics – Broad spectrum
Colonic Lavage
NBM 6-8 hours
POST-OP:
Routine colonic irrigation
Prophylactic antibiotics
Botulinum toxin injections into internal
anal sphincter.
Feeding 24-48hrs after colostomy and
return of bowel function
SURGERY
1. Swenson procedure
2. Soave procedure
3. Duhamel procedure
4. Anorectal myomectomy – For SSHD
5. Long segment HD anastomosis
6. Trans anal pull through procedure

15.  The mainstay of
treatment is
surgery. The goals
are to resect the
affected segment
of the colon, bring
the normal
ganglionic bowel
down close to the
anus, and
preserve internal
anal sphincter
function.
 The traditional
operation was an
abdominoperineal
pull-through in
two or three
stages, in which
patients initially
underwent a
diverting
colostomy (to
allow the dilated
bowel to
decompress) with
definitive repair
performed later.
Anastomosis
between normal
colon and low
rectum
Rectum over
sewn with
proximal bowel
over it.
Mucosa & submucosa
removed, aganglionic bowel
pulled through aganglionic
muscular cuff of rectum

16. ULTRA-SHORT SEGMENT HD
 Very short segment of aganglionosis extending 2 to 4 cm proximal to the internal anal sphincter
 The degree of constipation may be less severe and the complications of growth retardation and
enterocolitis are less likely to develop.
 Contrast enema - the rectum may be dilated down to the internal sphincter and there may not be a visible
transition zone.
 Anorectal manometry - the anorectal inhibitory reflex is absent.
 The diagnosis of USSHD is established by taking two biopsies:
●A biopsy taken just proximal to the dentate line that shows aganglionosis – This distinguishes USSHD from
internal anal sphincter achalasia (which has similar findings on anorectal manometry, but in achalasia ganglion
cells are present).
●A biopsy taken approximately 4 cm above the internal sphincter that shows normal ganglion cells – This biopsy
distinguishes USSHD from classical HD, in which ganglion cells would be absent.

17. COMPLICATIONS
ENTEROCOLITIS (45%)
- can happen in ganglionic colon
as well
- Inflammation- lumen fills with
fibrinous exudates – increased risk
of perforation
- Large segment more risk
- Happens within 1 year postop
- Surgery does not reduce risk
Tx – Iv antibiotics
- Aggressive colonic irrigation
- Decompression of bowel
- Enterostomy
OBSTRUCTION
- Abdominal distension,
emesis, constipation
TX – Anorectal dilatation or
R/V of pull through
- If increased internal anal
sphincter tone is suspected, a
trial of botulinum toxin
injection may be helpful.
- In many cases, obstructive
symptoms improve or resolve
with time .
INCONTINENCE
- Abnormal sphincter function
- Reduced sensation
- Overflow incontinence
secondary to constipation
- Seen in early post op
- Loss of water-absorptive
surface area from colonic
resection and anal sphincter
dysfunction are likely etiologic
factors.
-Usually improves with age
SURGERY
- Anastomotic leak (5%)
- Strictures (5-10%)
- Intestinal obstruction ( 5%)
- Pelvic abscess (5%)
- Wound infection (10%)
- Anesthetic risks
• Most patients enjoy an excellent quality of life
• Patients with trisomy 21 or other syndromes are more likely to have constipation or incontinence .

18.  http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease
 http://emedicine.medscape.com/article/178493-overview
 McKeown SJ, Stamp L, Hao MM, Young HM. Hirschsprung disease: a developmental disorder of the enteric
nervous system. Wiley Interdiscip Rev Dev Biol 2013; 2:113.
 Google Images