25/07/2015

NEONATAL MALFORMATIONS OF THE ALIMENTARY TRACT

DR MS RAJCOOMAR

MODERATOR: MS S GOVENDER COMMENTATOR: DR A DAYANAND

MR M SHEIK- GAFOOR

Introduction
The fully functional alimentary tract in the neonate is a complex organ system that develops from
a simple digestive tube through a complicated but orderly series of events that span the period
from very early embryonic life to birth. Because many alimentary tract abnormalities are the
result of abnormal embryogenesis, an understanding of the normal development of the alimentary
tract is helpful in understanding anomalous development.
Initial management: Fluids and Transport 1, 2
Nurse all neonates or infants on the lateral position to prevent aspiration of gastric contents.
All neonates with suspected obstruction must be aggressively resuscitated as a first line treatment.
Children will require maintenance as well as resuscitative fluids.
Maintenance fluids:
Neonatelyte/ PMS are the maintenance fluids available to us.
Daily maintenance fluids for most children can be estimated using the formula: 4 mL/kg per hour
up to 10 kg by adding 2 mL/kg per hour for 11 to 20 kg, and 1 mL/kg per hour for each additional
kilogram of body weight thereafter. For various surgical conditions, fluid requirements may vary.
Resuscitation fluids
Modified Ringer’s lactate is the fluid of choice for resuscitation.
Initially 20mls/kg bolus is given, the child is then reassessed, and repeat boluses of 10mls/kg can
be used until the urine output improves to 1-2mls/kg/hr. FDP bolus of 10ml/kg is used for
resuscitation as well.
NEONATAL TRANSPORT
It is crucial to provide a continuum of care, which cannot be interrupted during movement of the
patient especially in our setting where babies with congenital anomalies are generally born at
peripheral hospitals and have to be transported long distances before they reach a paediatric
surgical unit. Air transport is dangerous under many circumstances. Principles is based on TWO
SIDES (Tube (NG tube), Warmth, Oxygen, Stabilisation, IV fluids, Documentation, Escort,
Specimen)

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OESOPHAGEAL ATRESIA and TRACHEO-OESOPHAGEAL FISTULA 3,4,5
Oesophageal atresia and tracheo-oesophageal fistula is a complex of congenital anomalies
characterised by incomplete formation of the tubular oesophagus or an abnormal communication
between the esophagus and trachea.
Below are illustrations of different types of oesophageal atresia as identified on the basis of the
presence (and location) or absence of a trachea-oesophageal fistula. TOF occur in about 1 in 2500
live births.

8% 1% 84% 3% 4%

Embryology

Knowledge of embryology is essential to understand the pathogenesis of congenital TOFs.

The oesophagus and trachea both develop from the primitive foregut. In a 4 to 6-week-old
embryo, the caudal part of the foregut forms a ventral diverticulum that evolves into the trachea.
The longitudinal tracheo-oesophageal fold fuses to form a septum that divides the foregut into a
ventral laryngotracheal tube and a dorsal oesophagus. The posterior deviation of the tracheo-
oesophageal septum causes incomplete separation of the oesophagus from the laryngotracheal
tube and results in a TOF. Oesophageal atresia results if the trachea-oesophageal septum is
deviated posteriorly.
Oesophageal atresia as an isolated congenital anomaly is rare. In these cases, the atresia is
attributable to failure of the recanalization of the oesophagus during the eighth week of
development and is not associated with tracheo-oesophageal fistula.
Approximately 17-70% of children with TOFs have associated developmental anomalies. The
VACTERL (Vertebral, Anorectal, Cardiac, Tracheo-oEsophageal, Renal, Limb) association
should be excluded.
Presentation:
Prenatal:

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  Oesophageal atresia in the foetus should be considered if there is maternal
polyhydramnios and an absence of stomach gas on prenatal ultrasound.

Postnatal:
 Copious, fine white frothy bubbles of mucus in the mouth and nose that recur despite
suctioning.
 Rattling respiration and episodes of coughing and choking in association with cyanosis.
 Symptoms worsen during feeding.
 Abdominal distention may occur secondary to collection of air in the stomach.

Investigations

Imaging Studies

Prenatal diagnosis of congenital TOFs:

Prenatal ultrasound may reveal polyhydramnios, absence of fluid-filled stomach, small abdomen,
lower-than-expected foetal weight, and a distended oesophageal pouch.

Postnatal diagnosis of congenital TOFs:

CXR and AXR: A large caliber NGT curling in the upper pouch of the oesophagus and the
presence of gas in the stomach (indicative of the presence of the TOF). A fine NGT is liable to
curl up in the normal upper oesophagus or occasionally pass through the TOF giving the false
impression of an intact oesophagus.

High association with other VACTERL anomalies, therefore the following need to be done pre-
operatively

Echo: To define the severity of the cardiac lesion and a right sided aorta as the approach for the
repair of the atresia should be a left thoracotomy. If ECHO findings are equivocal a CTA should
be performed, as a right sided aorta poses a challenge in reaching the oesophagus and these
patients may have vascular rings creating more risk for complication.
Ultrasound – need to assess renal system

Procedures

Rigid bronchoscopy may be useful in the diagnosis of TOFs. This is done routinely pre-
operatively. It allows us to confirm the site of the fistula, to assess the trachea, and to take
specimens for microbiology.

Medical Management:
Preoperative

Prevention of pneumonitis from aspiration of upper pouch secretions and reflux of gastric acid
through the TOF.

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  Continuous low pressure suction of the upper pouch.
 Position the patient in an upright or prone position to minimize reflux.
 Proton pump inhibitors should be used to reduce gastric acidity.
 Routine intubation and ventilation should be avoided as this could increase the risk of
gastric perforation and worsen respiratory compromise due to over distension of the
stomach.

Surgery

The decision about whether operative intervention is required urgently or emergently depends on
the clinical condition of the patient.

Risk stratification & Prognostication to direct timing of operative intervention

The Spitz classification is the most widely accepted:

Birth Associated anomaly Timing Survival

weight rate
> 1.5kg without major cardiac anomaly immediate repair 97%
< 1.5kg or major cardiac anomaly delayed repair 59%
< 1.5kg and major cardiac anomaly staged repair 22%

In the preterm infant with respiratory distress requiring ventilation, a transpleural approach with
in-continuity ligation of the fistula is advocated and the patient is taken back to ICU for further
resuscitation. A delayed primary anastomosis is then done in 7 – 10 days or else re-fistulisation
will occur.

Immediate surgery for oesophageal atresia with distal TOF is seldom necessary and a period of
24-48hrs between diagnosis and surgery allows for a full assessment and investigation for
associated anomalies as well as resuscitation.

The procedure of choice is division of the fistula with primary anastomosis of the oesophagus.
This is carried out via a right posterolateral thoracotomy. If a right-sided aortic arch is present
(2.5%) a left thoracotomy is used.
An extrapleural approach is preferred as there is a reduced chance of empyema should there be an
anastomotic leak.

Long gap, with or without TOF

The use of the number of vertebral bodies between the two segments is a reasonable guide.

Gap 2 – 6 vertebral bodies: Certain procedures can be done to try to facilitate an anastomosis:
Livaditis myotomy, Foker’s 2 staged procedure and the multistaged extrathoracic oesophageal
elongation. The anastomosis can usually be performed in 8 weeks. Post operatively, the patient
can be ventilated and the head kept flexed to prevent any tension on the anastomosis, thereby
preventing leaks.

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Gap > 6 vertebral bodies: highly unlikely to achieve a primary anastomosis. The cervical
oesophagostomy and the gastrostomy should be done and then the replacement of the oesophagus
should be done at the later stage using either gastric transposition, colon interposition, reversed
gastric tube or small bowel interposition. With the replacement of the oesophagus the surgeon
must be careful with the blood supply and prevent torsion in order to avoid the most feared
complication (breakdown in the chest).

Complications

Anastomotic strictures, tracheomalacia (seen in all patients), anastomotic leak, recurrent fistula,
stricture formation, Gastro-oesophageal reflux, altered oesophageal peristalsis (seen in all
patients), diverticula at the myotomy site, pulmonary complications (eg. hacking cough,
bronchitis, frequent pneumonia), swallowing difficulties, dyspepsia, anastomotic dehiscence,
oesophageal stenosis, chest wall deformities, scoliosis.

Gastro-oesophageal Reflux

This is a common complication, occurring in 40-70% of patients after OA repair.

Diagnosis is made with Upper endoscopy, pH monitoring, contrast swallow studies.

Medical management includes proton pump inhibitors antagonists and prokinetic agents.

Surgical management (gastro-oesophageal fundoplication) is warranted in those who have failed

on medical management, those with severe reflux or with marked oesophageal motility
abnormality. However, Thal (partial wrap) and Nissen fundoplications are associated with a high
incidence of recurrent reflux and post-operative dysphagia.

INFANTILE HYPERTROPHIC PYLORIC STENOSIS6,7,8

Hypertrophic pyloric stenosis (HPS) causes a functional gastric outlet obstruction as a result of
hypertrophy and hyperplasia of the muscular layers of the pylorus. In infants, HPS is the most
common cause of gastric outlet obstruction and the most common surgical cause of vomiting. The
prevalence is 2-4/1000 live births. It is more common in whites compared to Africans and Asians.
Males are affected more often with a 4:1 ratio.

Aeitiology:

No definitive cause for hypertrophic pyloric stenosis has been found. However, various
environmental and hereditary factors have been implicated. Suspected environmental factors
include infantile hypergastrinaemia, abnormalities in the myenteric plexus innervation, cow's milk
protein allergy, and exposure to macrolide antibiotics. Early azithromycin exposure may increase
the risk of infantile pyloric stenosis. Hereditary factors may also play a role; hypertrophic pyloric
stenosis occurs in as many as 7% of infants of affected parents. Recognition that hypertrophic
pyloric stenosis is an acquired disorder and not a congenital disorder is increasing.

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Pathophysiology:

HPS occurs secondary to hypertrophy and hyperplasia of the muscular layers of the pylorus,
which cause a functional gastric outlet obstruction. Diffuse hypertrophy and hyperplasia of the
smooth muscle of the antrum of the stomach and pylorus proper narrow the channel, which then
can become easily obstructed. The antral region is elongated and thickened to as much as twice its
normal size. In response to outflow obstruction and vigorous peristalsis, stomach musculature
becomes uniformly hypertrophied and dilated.

Clinical Features

Typical presentation of an infant with hypertrophic pyloric stenosis (HPS) is onset of initially
nonbloody, always nonbilious vomiting at 4-8 weeks. Although vomiting may initially be
infrequent, over several days it becomes more predictable, occurring at nearly every feeding.
Vomiting intensity also increases until pathognomonic projectile vomiting ensues. Slight
hematemesis of either bright red flecks or a coffee-ground appearance is sometimes observed.
Prolonged delay in diagnosis can lead to dehydration, metabolic alterations, lethargy and
malnutrition.

Careful physical examination provides a definitive diagnosis. An enlarged pylorus, classically

described as an "olive," can be palpated in the right upper quadrant or epigastrium of the abdomen
in 60-80% of infants. The diagnosis is easily made if the presenting clinical features are typical,
with projectile vomiting, visible peristalsis in the mid to left upper abdomen, and a palpable
pyloric tumor.

Investigations

Ultrasonography is the gold standard for diagnosing HPS. The diagnostic criteria are:

 A muscle thickness of greater than or equal to 4 mm and a length of greater than or equal
to 16 mm
 A thickness of more than 3mm is considered positive if the neonate is < 30days old

It has a sensitivity of 91%-100% and a specificity of 100%.

If US findings are equivocal a barium meal is performed. However once the study is completed
the barium must be evacuated from the stomach to reduce risk of aspiration.

Management: Pyloric stenosis is a biochemical emergency.

Initial
 Start IV 5% Dextrose Saline.
 Give initial bolus of 20 ml/kg and repeat prn until urine output is >1 ml/kg/hr
 Check pH of urine
 Once urine passed, add KCl 20 meq/L.
 Titrate rate of infusion against urine output.

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  Recheck urea and electrolytes every 4-6 hours.
 Plan surgery when bicarbonate is less than 30 mmol/L.(with serum bicarbonate levels
exceeding 30 mEq/dL, the potential exists for myocardial dysfunction and respiratory
depression)

SURGICAL CARE

Ramstedt pyloromyotomy

Remains the standard approach for HPS because it is easily performed and associated with
minimal complications.

A circum-umbilical curvilinear incision is used and the linea alba divided cephalad to gain entry
into the abdomen.
Once the abdomen is entered, the pylorus is identified; undue traction on the pylorus or
duodenum is avoided. A serosal incision is made from the pyloric vein to the gastric antrum. This
incision is then spread apart to complete the myotomy. Avoid use of cautery because most
bleeding is venous and remits when the pylorus is returned to its normal position.

Laparoscopic Pyloromyotomy is also an attractive option in resourceful centres and expertise.

Typically performed with 3 stab wounds. Has reduced operative time and provide superior
cosmesis. However similar results via umbilical incision.

Follow up care

Graded feeds are usually resumed 6 – 8 hours after operation. Gradually increasing the volume
and strength of feeds is recommended.

Premature infants require apnoea monitoring post op.

Narcotic analgesics should be avoided in the post op period because opiates precipitate apnoea in
the alkalotic newborn.

Complications

1) Undetected mucosal perforation: Abdominal distension with peritonitis is managed

surgically.
2) Bleeding: usually self-limiting, but if persists, rule out coagulopathy.
3) Persistent vomiting: due to incomplete myotomy in the hands of inexperienced operators.

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 DUODENAL ATRESIA AND STENOSIS 9, 10, 11
Duodenal atresia and stenosis are the most common types of intestinal obstruction detected in the
fetus. Duodenal atresia occurs in 1 per 5000 to 10,000 live births and affecting boys more
commonly than girls.
Associated anomalies — More than one-half of fetuses with duodenal atresia have associated
anomalies. Trisomy 21, occurring in a third of affected infants, and congenital heart disease must
be suspected in children with duodenal atresia. Concurrent malrotation and second intestinal
atresias are GIT abnormalities that occur with increased frequency.
Embryology: Duodenal atresia can either occur from an intrinsic duodenal obstruction or less
commonly from an extrinsic compression.
In order to appreciate the aetiology it is vital to understand the embryology.

The duodenum develops from the caudal part of the foregut and the cranial part of the midgut. At
4 weeks gestation, it consists of an epithelial tube surrounded by mesenchyme. At 5-6 weeks
gestation, the epithelium proliferates while the surrounding mesenchymal walls are still narrow.
The epithelial cells fill the lumen, completely obliterating it. Subsequent epithelial apoptosis at 8-
10 weeks gestation leads to vacuolation and recanalization of the duodenum. Failure of
vacuolation by may lead to intrinsic duodenal obstruction. Vascular catastrophes and early
intrauterine intussusception have been implicated

The extrinsic form of duodenal obstruction is due to defects in the development of neighbouring
structures such as the pancreas, a preduodenal portal vein, or secondary to malrotation and Ladd’s
bands.

Atresia accounts for up to 75 percent of intestinal obstructions and has three phenotypes:
●Type 1 – Membranous mucosal atresia with an intact muscular wall (69 percent)
●Type 2 – Short fibrous cord which connects the two ends of the atretic duodenum
●Type 3 – Complete separation of the two ends of the duodenum plus biliary tract anomalies

Type 1 Type 2 Type 3

Windsock deformity

Diagnosis:
Prenatal:
 Maternal polyhydramnios

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  U/S findings of double bubble in up to 44% of cases – can only be done after 12 weeks of
gestation when the lumen has recanalised after the duodenal proliferation.

Postnatal:
 Bilious vomiting within the first few hours of life. However if the atresia is pre-ampullary
(10% of cases) there will be non-bilious vomiting.
 Scaphoid abdomen
 Aspiration via a NGT of > 20mls of gastric contents in a newborn (normal is < 5mls)
 Neonates with stenosis – diagnosis is delayed until enteral feeds are started and
intolerance develops with vomiting and abdominal distension.

Investigations:
 AXR: is usually diagnostic, showing the classic “double bubble” sign with no distal bowel
gas.

With duodenal stenosis, a “double bubble” sign is usually not present and the diagnosis is usually
made with a contrast meal, which will also rule out the possibility of malrotation and volvulus.
Differential diagnosis — Differential diagnosis includes annular pancreas with extrinsic
compression, intestinal malrotation with Ladd’s bands, gastrointestinal duplication cysts,
preduodenal portal vein, and choledochal cyst.

Treatment
Gastric decompression is essential to prevent aspiration.
Thermoregulation should be closely monitored.
When fluid resuscitation has been accomplished, the neonate should proceed to surgery.
Surgical option commonly resorted to is Duodenoduodenostomy

Duodenoduodenostomy: longitudinal incision placed in the distal collapsed end of the duodenum,
and it is brought up and anastomosed to the proximal dilated portion of the duodenum where a
transverse incision is made at the inferior aspect of the bulbous blind end. This anastomosis
should be a diamond – shaped duodenoduodenostomy.
A Ladd procedure is warranted if malrotation is present.

Feeding may be started when GI function is established, this may take up to 2 weeks. Gastric
decompression is needed until then. TPN is used to provide the nutritional requirements during
this period.

JEJUNOILEAL ATRESIA AND STENOSIS 9, 12

Jejunal and ileal atresias are complete obstructions of the small bowel lumen; they are more
common than small bowel stenosis. Atresias can occur anywhere in the small bowel, but most
commonly present in the proximal jejunal (30%) and distal ileum (35%). Jejunoileal atresia
occurs in approximately 1 in 5000 live births. It occurs equally in males and females, and about
one in three infants is premature.

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Aetiology:
The cause of jejunoileal atresia is thought to be due to vascular compromise of the affected
segment of bowel, leading to ischemia and necrosis of the bowel. This is thought to be secondary
to bile, lanugo hair, and squamous epithelial cells from swallowed amniotic fluid, as well
intrauterine fetal intussusception, midgut volvulus, thromboembolic occlusions, transmesenteric
internal hernias.
The use of maternal vasoconstrictive medications, maternal cigarette smoking, and drug abuse
(cocaine) in the first trimester of pregnancy has been shown to increase the risk of small bowel
atresia.
Intestinal atresias are classified as:
●Type 1 – Intraluminal diaphragm in continuity with the muscular coats of the proximal and
distal segments (32 percent).
●Type 2 – Fibrotic cord connecting two blind ending bowel segments (25 percent).
●Type 3a – Complete separation of blind ending loops (15 percent).
Type 3b – Mesenteric defect and associated apple peel deformity. The terminal ileum is perfused
from single ileocolic artery (11 percent).
●Type 4 – Multiple atresias (6 percent).

Diagnosis:
Prenatal:
Dilated loops of bowel and polyhydramnios on prenatal U/S
Postnatal:
 Prematurity in 35%,
 LBW in 25- 50%.
 Bilious vomiting,
 Abdominal distension - more severe with the more distal atresias

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  Failure to pass meconium in the first 24 hours (Hirschsprung’s disease must be excluded).
Passage of the meconium does not rule out intestinal atresia.
 The proximal atresia leads to loss of gastric like fluid so the patient has hypokalemic,
hypochloremic metabolic alkalosis. Whilst the patients with the distal atresia have
isotonic loses so the U/E will be normal until the sufficient dehydration causes the
metabolic acidosis.

INVESTIGATIONS
Radiography. With more proximal atresias, few air-fluid levels are evident with no apparent gas
in the lower part of the abdomen. A triple bubble sign may be seen. The more distal lesions
demonstrate more air – fluid levels, but the lower part remains without a gas pattern.
Contrast meal and follow-through confirms and obstruction at this level.
TREATMENT
Medical
Once the diagnosis is made, the patient should be fully resuscitated before surgical correction is
attempted, unless a volvulus is suspected.
SURGICAL
A transverse supra-umbilical incision affords adequate exposure of the abdominal contents. The
full length of the bowel is manually explored for malrotation, other atresias, or stenoses; care is
taken to keep bowel warm and moist at all times. The length of bowel that appears functional is
measured along the anti-mesenteric border bowel length affects the procedure and overall
prognosis. Saline is injected into the distal bowel and followed closely to the caecum to ensure
patency. The same is done for the colon.
Once patency of the entire length of the bowel is established, the repair may proceed. The dilated
proximal bulb generally does not have normal function and should be resected up to a more
suitable size to avoid problems with abnormal peristalsis postoperatively.
If the bowel length is limited, a tapering enteroplasty should be considered rather than resection.
An end-end anastomosis can then be performed.
Post-Op
If the need for the long term TPN is anticipated a long line should be inserted at the time of
surgery.
Enteral feeds are started via NGT after signs of bowel function occur - clear, low volume NG
output, soft and non-distended abdomen and passage of stool.

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 COLONIC ATRESIA13, 14, 15
The colon is the rarest site of atresia in the gastrointestinal (GI) tract. Although the etiology of
colonic atresia has traditionally been believed to be related to antenatal mesenteric vascular
accidents, a 2005 study suggests that defects in the fibroblast growth factor 10 (FGF10) pathway
may be involved.
Colonic atresia is typically classified according to the 1989 descriptions of intestinal atresia by Bland-
Sutton and the 1964 descriptions by Louw. In type 1 colonic atresia, the bowel and mesentery remain
intact, but the bowel lumen is interrupted by a complete membrane. In type 2 colonic atresia, the bowel is
discontinuous, with portions connected by a fibrous cord. In type 3 (most common) colonic atresia, the
bowel ends are completely separated, and the mesentery has a gap. Stenotic lesions are characterized by
intact bowel with incomplete occlusion and require no classification.

Diagnosis:
Prenatal:
 On prenatal U/S the diameter of the colon is larger than expected for gestational age.
Postnatal:
 Abdominal distention
 Bilious vomiting
 Failure to pass meconium.
Investigations:
 AXR: air-fluid levels and dilated loops of large bowel. The dilation can be so massive that
it mimics pneumoperitoneum
 Contrast enema: is diagnostic showing a small diameter distal colon that comes to an
abrupt halt at the level of the obstruction

Treatment
Treatment depends on the extent and location of the lesion and the clinical presentation of the
patient. Care should be taken to avoid perforation secondary to severe distension. A staged
procedure beginning with resection of the affected portion and colostomy with mucous fistula is
generally the preferred initial treatment of choice because of the extreme dilation of the proximal
colon that is usually found and if distal pathology such as Hirschsprung’s disease has not been
excluded. Ileocolic or colocolic anastomosis should be performed as a second procedure.

INTESTINAL MALROTATION16, 17, 18, 19

Intestinal malrotation is defined as either non-rotation or incomplete rotation of the intestine
around the superior mesenteric artery. It involves anomalies of fixation as well. It is seen in 1 in
6000 live births.

Embryology:
Normal rotation takes place around the superior mesenteric artery. It is described by referring to 2
ends of the alimentary canal, the proximal duodeno-jejunal loop and the distal caeco-colic loop,
and is divided into 3 stages. Both loops rotate a total of 270°.

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Stage I: (5-10 weeks gestation)
There is herniation of the bowel into the base of the umbilical cord. The duodenojejunal loop
starts at 90° and rotates to 270°. The caecocolic loop starts at 270° and rotates to 0°.
During this period the bowel increases in length and a broad pedicle is formed at the base of the
mesentery. The bowel remains in this position till it returns to the abdominal cavity.

Stage II: (10-11 weeks gestation)

The bowel returns to the abdominal cavity. As it returns, the duodenojejunal loop rotates an
additional 90° to end on the left of the SMA, the 0° position. The caecocolic loop turns 180° more
as it re-enters the abdominal cavity. This turn places it to the right of the SMA, a 180° position.

Stage III: (11 weeks gestation – term)

It involves the descent of the caecum to the right lower quadrant and fixation of the mesenteries.

Nonrotation: is due to arrest in stage I. The duodenojejunal junction does not lie inferior and to
the left of the SMA, and the caecum does not lie in the right lower quadrant. The mesentery forms
a narrow base as the gut lengthens on the SMA without rotation, and this narrow base is prone to
clockwise twisting leading to midgut volvulus.

Incomplete rotation: arrest in stage II results in incomplete rotation and is most likely to result in
duodenal obstruction. The peritoneal bands (Ladd's bands) running from the misplaced caecum to
the mesentery compress the third portion of the duodenum. Depending on how much rotation was
completed prior to arrest, the mesenteric base may be narrow and, midgut volvulus can occur.
Internal herniations may also occur with incomplete rotation if the duodenojejunal loop does not
rotate but the caecocolic loop does rotate. This may trap most of the small bowel in the mesentery
of the large bowel, creating a right mesocolic (paraduodenal) hernia.

Incomplete fixation: Potential hernial pouches form when the mesentery of the right and left
colon and the duodenum do not become fixed retroperitoneally. If the descending mesocolon
between remains unfixed, the small intestine may push out through the unsupported area as it
migrates to the left upper quadrant creating a left mesocolic hernia. If the caecum remains
unfixed, volvulus of the terminal ileum, caecum, and proximal ascending colon may occur.

History
Intestinal malrotation can present as either an acute or chronic process. Additionally, various
types of rotational defects are recognized. The history of present illness varies depending on these
different factors.

Acute midgut volvulus

 Usually occurs during the first year of life
 Sudden onset of bilious emesis
 Diffuse abdominal pain out of proportion to physical examination

Chronic midgut volvulus

 Chronic midgut volvulus is due to intermittent or partial twisting that results in lymphatic
and venous obstruction.

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  The most common symptoms are recurrent abdominal pain and malabsorption syndrome.
 Further history taking among older patients with acute midgut volvulus may reveal
presence of missed diagnosis of chronic midgut volvulus.
 Other clinical features include recurrent bouts of diarrhea alternating with constipation,
intolerance of solid food, obstructive jaundice, and gastro-oesophageal reflux.

Acute duodenal obstruction

 This anomaly is usually recognized in infants and is due to compression or kinking of the
duodenum by peritoneal bands (Ladd bands).
 Patients present with forceful vomiting, which may or may not be bile-stained, depending
on the location of the obstruction with respect to the entrance of the common bile duct
(ampulla of Vater).

Internal herniation
 Internal herniation usually causes chronic symptoms.
 Patients have recurrent abdominal pain, which may progress from intermittent to constant.
 They experience vomiting as well as constipation at times.
 They are often diagnosed with psychosocial problems.

Investigations:

AXR - The double bubble sign that is associated with the duodenal atresia may be seen. The
presence of distal gas excludes duodenal atresia.
Contrast meal and follow through (gold standard) - duodenojejunal flexure to the right of the
spine, obstruction of the duodenum, and the ‘coil spring,’ ‘corkscrew,’ or ‘beak’ appearance of
the obstructed proximal jejunum.

Ultrasound findings are:

- Inversion of the superior mesenteric vessels i.e. SMV on the left of the SMA.
- ‘Whirlpool sign’ - appearance of the SMV, bowel and the mesentry wrapping around the SMA.
If found, it has a specificity of 99%.

Management:

Midgut volvulus is an emergency! The patient should be aggressively resuscitated, and

immediately operated on. Delaying surgery for confirmatory testing should be discouraged when
the diagnosis is likely, based on clinical grounds.

The Ladd procedure remains the cornerstone of surgical treatment for malrotation today.

There are six essential steps to the procedure:

1. Entry into abdominal cavity and evisceration
2. Counterclockwise detorsion of the bowel
3. Division of Ladd’s caecal bands
4. Broadening of the small intestine mesentery
5. Incidental appendectomy (* controversial; not routinely performed locally)

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6. Placement of small bowel along the right lateral gutter and colon along the left lateral gutter.

ANORECTAL MALFORMATION20, 21
Anorectal malformations include a wide spectrum of defects in the development of the lowest
portion of the intestinal and urogenital tracts. Boys are affected slightly more than girls.
Occurrence is 1 in 5000 live births.
Embryology:
The embryological basis includes failure of descent of the urorectal septum. The rectum fails to
descend through the external sphincter complex, ending above or below the levator ani muscle.

Diagnosis
 If the patient does not have a normal anus in the normal position an anorectal malformation is
present
 A decision must be made as to whether the abnormality is supralevator or infralevator
 Massive abdominal distension, which is interfering with breathing may necessitate urgent
surgery. This is uncommon unless the diagnosis has been seriously delayed.

Classification of ARMS
Previously anorectal malformations were classified according to the Wingspread classification
which divided the malformations into three types low, intermediate and high- depending on the
relationship of the rectal pouch to the levator muscle. Currently ARMS are classified according to
the Krickenbeck classification which is a therapeutic and prognostic orientated classification
based mainly on the presence or absence of fistulas and their type and location, as well as the
position of the rectal pouch.
Classification of ARMS (Krickenbeck Classification)

Lower malformations are the rectoperineal and rectovestibular fistulae.

Cloacal anomaly is a complex anatomic disorder that manifests as a unique external perineal
opening with a short or long common canal for the genital, urinary, and digestive systems.

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Isolated rectovaginal fistulas are extremely rare and are considered a variant of cloacal anomaly.
On perineal exam a single orifice is seen. It should be suspected in a female born with imperforate
anus and small-looking genitalia.
Associated anomalies
Need to be looked for in all cases - VACTERL anomalies

Diagnostic tests include X-rays, Ultrasound, Cardiac echo

Diagnosis & Management:

Diagnosis is largely based on clinical findings.

A period of 16-24hrs is needed before the defect can be properly identified. Abdominal distension
does not develop for the first few hours post birth. The intra-abdominal pressure is required to
force meconium through a rectoperineal fistula as well as through a urinary fistula thereby
identifying the defect.

If meconium is seen on the perineum, a perineal fistula is present. If there is meconium in the
urine, a rectourinary fistula exists. A crosstable lateral Xray is done after 24hrs if the defect is not
properly identified, to assess the level of the defect.

During the first 24 hours:

 intravenous fluids
 antibiotics
 NG tube to decompress the abdomen and prevent aspiration
 evaluate for associated defects that may represent a threat to life (cardiac malformations,
esophageal atresia, urinary defects, spinal malformations)

The decision for colostomy vs primary anoplasty are based on the type of fistula/ level in relation
to the sphincters and clinical condition of the patient.

Procedures:
Males
 anorectoplasty – rectoperineal fistula
 colostomy – rectobulbar urethral fistula, imperforate anus without fistula, rectoprostatic
fistula, rectovesical fistula, rectal atresia
Females
 anorectoplasty – perineal fistula, rectovestibular anus
 colostomy – imperforate anus without fistula, persistent cloaca, rectovaginal fistula, rectal
atresia

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SURGERY

Approaches used are based on the defect:

 posterior sagittal anorectoplasty (PSARP)
 abdominoperineal pull through
 anterior saggital anorectoplasty (ASARP) – vestibular fistula and perineal fistula

ARM’s in 90% of boys may be repaired solely with a PSARP, whereas 10% require an additional
abdominal component (with laparotomy or laparoscopy) to mobilize a very high rectum.
All malformations in girls may be repaired with the PSARP with the exception those with a
persistent cloaca.

Vestibular fistula:
Of special mention is the most common defect in females. Locally an ASARP is preferred but it
does not need to be done urgently as the patients can usually be decompressed well via the fistula.

Post op:

In patients with a rectourethral fistula a foley’s catheter must be left in-situ for 5-7days to allow
the fistula to heal.

At 2 weeks post op anal dilation must begin – mum is taught how to dilate twice daily. Locally a
candle is used for this purpose.

Once an appropriate size is reached, the colostomy may be closed. Dilations are continued
thereafter until the child is passing stool comfortably and at regular interval.

HIRSCHSPRUNG’S DISEASE22, 23, 24

Hirschsprung’s disease is a developmental disorder characterized by absence of ganglia in the

distal colon, resulting in a functional obstruction.

In patients with Hirschsprung’s disease, both myenteric and submucosal plexuses are absent. The
anus is invariably affected, and aganglionosis continues proximally for a variable distance. In the
absence of enteric nervous system (ENS) reflexes, control of the intestinal smooth muscle is
overwhelmingly extrinsic. The activity of both the cholinergic system and the adrenergic system
is 2-3 times that of normal intestine. The adrenergic (excitatory) system is thought to predominate
over the cholinergic (inhibitory) system, leading to an increase in smooth muscle tone. With the
loss of the intrinsic enteric relaxing impulses, the increased muscle tone is unopposed. This
phenomenon leads to an imbalance of smooth muscle contractility, uncoordinated peristalsis, and
a functional obstruction.

It is seen in 1 in 5000 live births and is more common in males.

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Embryology:

Enteric ganglion cells are derived from the neural crest during embryonic development. In normal
development, neuroblasts are found in the esophagus by the fifth week of gestation, and they
migrate to the small intestine by the seventh week and to the colon by the twelfth week. One
possible etiology of Hirschsprung’s disease is the arrest of aboral neuroblast migration.
Alternatively, while normal cell migration may occur, neuroblasts may be subject to apoptosis,
failure of proliferation, or improper differentiation within the affected distal intestinal segment.

Presentation:
The diagnosis of HD is often made in the first few weeks or months of life:
 delayed passage of meconium in the newborn
 constipation with intermittent diarrhoea
 distended abdomen with bilious vomiting
 feeding intolerance
 poor weight gain or even weight loss
 explosive, foul-smelling stools associated with fever and abdominal distention heralds the
onset of HD enterocolitis, a potentially fatal complication

INVESTIGATIONS

Radiology
The diagnostic evaluation should begin with plain abdominal radiography followed by a contrast
enema of the colon to confirm the diagnosis.
Abdominal x-rays
 Faecal loading
 Air–fluid levels that can be determined to be a distal bowel obstruction
 A “cutoff” sign in the recto-sigmoid region, with an absence of air
The contrast enema
 shows the presence of a transition zone
 irregular contractions
 mucosal irregularity
 delayed evacuation of contrast material

Anorectal manometry (sensitivity 75%-100%, specificity 85%-95%)

 rarely used in neonates, useful in older children
 the classic finding is the absence of the rectoanal inhibitory reflex when the rectum is
distended

Full-thickness rectal biopsy (gold standard)

 absence of ganglion cells in both the myenteric and submucosal plexus
 hypertrophic nerve fibers (must be done at least 2cm above the dentate line as
hypoganglionosis may normally be present below this)

Rectal suction biopsy (sensitivity > 90%, specificity > 95%)

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Management:
Often the patients diagnosis at a peripheral hospital went unrecognized and they present after
having a prolonged period of bowel obstruction.
Thus it is important to first resuscitate them before considering any surgical intervention:
 IV fluids and electrolyte replacement
 Nasogastric decompression
 IV antibiotics if sepsis/enterocolitis is suspected
 Colonic lavage using a large-bore rectal tube

Surgical management:
3 most commonly performed definitive repairs are the Swenson, Duhamel and Soave procedures.
Choice of procedure depends on the age at presentation. If the patient presents in the neonatal
period a primary pull through procedure can be done after a period of colonic lavage. A patient
presenting late requires a leveling colostomy first.

Swenson procedure (the original procedure for HD):

 The aganglionic segment is resected down to the sigmoid colon and the remaining rectum,
and an oblique anastomosisis performed between the normal colon and the low rectum
 The oblique anastomosis is believed to result in fewer strictures at the anastomotic line

Duhamel procedure:
 Modification of the Swenson procedure
 The aganglionic proximal rectum and colon is resected and the distal aganglionic rectum
is left in place. A retrorectal approach is used to bring down ganglionated bowel. The
lumen of the neorectum is sutured end-side to the lumen of the native rectum. A stapler is
used to incise the septum between the neorectum and native rectum.

Endorectal pull through (Soave) procedure: open / assisted or transanal route

It is more commonly performed in the neonatal period.
 Consists of removing the mucosa and submucosa of the rectum and pulling the ganglionic
bowel through the aganglionic muscular cuff of rectum
 The pull through segment is then anastomosed primarily at the anus above the dentate line
Locally the laparoscopic approach is more commonly performed.

CONCLUSION
In the modern era, neonatal malformation of the alimentary tract is becoming more a prenatal
diagnosis and intervention is timely planned. However in our setting, judicious examination of the
newborn and relevant symptoms should prompt a high index of suspicion and thereby warrant
further investigation and appropriate management.

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