HIRSCHPRUNG

DISEASE

Department of Radiology
Medical Faculty Of Hasanuddin University, Makassar
 INTRODUCTION

 Hirschsprung’s disease (HD) is a common cause of pediatric

intestinal obstruction. It is caused by the failure of the ganglion cells
to migrate cephalocaudally through the neural crest causing
absence of ganglion cell in all or some parts of colon.

Moore, S. W. Hirschsprung disease: current perspectives. Open Access

Surgery.2016;9: 39-49.
 EPIDEMIOLOGY

Moore, S. W. Hirschsprung disease: current perspectives. Open Access

Surgery.2016;9: 39-49.
 PATOGENESIS

Chhabra, S., & Kenny, S. E. Hirschsprung’s disease. Surgery (Oxford). Elsevier.

2016; 34(12): 628–32.
 CLINICAL PRESENTATION

Moore, S. W. Hirschsprung disease: current perspectives. Open Access

Surgery.2016;9: 39-49.
 CLINICAL EXAMINATION

Patients with Hirschsprung’s disease present with abdominal

distention.
Abbas M, Rashid A, Laharwal A, Wani A, Dar S, Chalkoo M, et al. Barium Enema in the Diagnosis of Hirschsprung’s Disease: A Comparison with Rectal Biopsy.
Research Gate. 2012;225-8.
Mandhan P. Hirschsprung’s Disease Scientific Update. SQU Med J. 2011: 138-145.
 RADIOLOGY EXAMINATION

a. X-ray Abdomen

A plain radiography may demonstrate a

transition zone between a gas-filled colon and
a non-dilated proximal colon, as a funnel-
shaped region.

Lateral abdominal X-ray in a Hirschsprung disease patient

showing transition zone.

Moore, S. W. Hirschsprung disease: current perspectives. Open Access

Surgery.2016;9: 39-49.
 RADIOLOGY EXAMINATION

b. Contrast Enema

Contrast enema (CE)

with barium may be the first
imaging procedure
performed in the majority of
centers, showing a transition
zone, irregular colonic
contractions, irregular
mucosa suggesting
enterocolitis, and an
abnormal rectosigmoid index
(RSI). Contrast enema showing the transition zone in a Barium enema showing the characteristic transition zo
Hirschsprung disease patient and abnormal rectosigmoid
ratio
Abbas M, Rashid A, Laharwal A, Wani A, Dar S, Chalkoo M, et al. Barium Enema in the Diagnosis of Hirschsprung’s Disease: A Comparison with Rectal Biopsy.
Research Gate. 2012;225-8.
Moore, S. W. Hirschsprung disease: current perspectives. Open Access Surgery.2016;9: 39-49.
 RADIOLOGY EXAMINATION

c. MDCT (Multidetector CT)

15 days male neonate presented with delayed

passage of meconium, and abdominal distension.
(a and b) Contrast enema in anteroposterior and
lateral views showed a transition between
narrowed distal rectum and dilated proximal colon
(red arrow). (c and d) MDCT in sagittal and coronal
reformatted images with contrast enema showed
the same site of transition zone at rectosigmoid
colon (red arrow) (TZ length was 7.8 mm, and
mean TZ ratio was 3.8)

Seifeldein, G. S., Omar, N. N., Faddan, N. H. A., & Elraheem, O. A. Low dose multidetector computed tomography in localizing the transition zone of
Hirschsprung’s Disease: A novel study. The Egyptian Journal of Radiology and Nuclear Medicine.2016;47(4):1585–90.
 HISTOPATOLOGY EXAMINATION

Intramuscular nerve plexus in H + E staining, arrows indicate

numerous ganglion cells. B – Histochemical staining for the
presence of acetylcholinesterase (AChE), larger mesh of thick,
dense, and irregular nerve fibres. C – Specimen taken from the
neonate intestinal wall in H + E staining, arrows indicate
irregular, small, and immature (dysplastic) ganglion cells. D –
S100 staining highlighting the presence of ganglion cells by
expression of Schwann’s cells and nerve cells. Primary
magnification 20×

Szylberg L, Marszałek A. Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature. Prz
Gastroenterol. 2014; 9 (5): 264–9.
 DIFFERENTIAL DIAGNOSIS
a. Meconium plug syndrome

A lateral view from contrast enema in a newborn

Supine frontal view of the abdomen in a newborn
demonstrates a normal-to-decreased caliber "empty" distal
with meconium plug syndrome demonstrates
colon and dilated proximal bowel containing multiple plugs.
multiple dilated loops of bowel but no rectal gas.
The child responded clinically and radiographically to a
single enema.
Diament M. Meconium Plug Syndrome Imaging [Internet]. Medscape. 2019. [cited 30 May 2019]. Avalaible from:
 DIFFERENTIAL DIAGNOSIS

b. Necrotizing enterocolitis (NEC)

Supine plain X-ray of the abdomen: aspecific Ultrasound (US) examination showed an abundant ascites
distension of small bowel loops.

Esposito, F., Mamone, R., Di Serafino, M., Mercogliano, C., Vitale, V., Vallone, G., & Oresta, P. Diagnostic imaging features of necrotizing enterocolitis: a
narrative review. Quantitative Imaging in Medicine and Surgery. 2017; 7(3):336–44.
 TREATMENT

The next aim is to relieve the intestinal

However, the initial aim of management is
The standard surgical management of
to resuscitate the patient (some children
Hirschprung varies from center to center.
with enterocolitis have severe fluid deficits
obstruction. In many patients, this can be
achieved by regular adequate rectal
washouts with warm saline every 6 hours.
If relief from obstruction is obtained by
this means, then the washouts may be
continued until early corrective surgery
can be performed (preferentially in the
neonatal period).

Should complete decompression of the
distended bowel not be obtained by this
means, a surgical defunctioning stoma
may still be necessary in patients not
decompressing fully or when nursing care
is defective.
The stoma must be based on the normally
enervated bowel level. The current
practice of managing the obstruction by
bowel irrigation techniques allows for
early one-stage surgery to be performed
within the neonatal period.

Moore, S. W. Hirschsprung disease: current perspectives. Open Access

Surgery.2016;9: 39-49.
 CONCLUSION

 Hirschsprung disease is a common cause of pediatric bowel obstruction caused by failure

of ganglion cells to migrate cephalocudally through the neural crest which causes the
absence of ganglion cells throughout or part of the colon. Neonates with hirschprung
disease usually present with distal intestinal obstruction within the first few days of life that
does not excrete meconium within the first 24 to 48 hours after birth. Erect position in
abdominal photos can show an air-fluid level, which indicates intestinal obstruction. There
is also a picture of the absence of air in the rectum. The essential diagnostic feature of
enema contrast is the appearance of narrow aganglionic segments with dilated proximal
intestinal segments, inverse rectosigmoid ratio, and the presence of transition segments.
Management of Hirschsprung disease consists of non-surgical and surgical measures.
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