DEVELOPMENTAL ANOMALIES OF
GASTROINTESTINAL TRACT
DR. DEV LAKHERA

Classification of developmental
anomalies of GIT
STRUCTURAL
EMBRYOLOGICAL MALDEVELOPMENT Malrotation
Oesophageal/ pyloric/ duodenal/
anorectal atresia
Duplication cyst
IN UTERO (ISCHEMIC) COMPLICATIONS
FUNCTIONAL
• Meconium plug syndrome
• -intestinal hypoperistalsis
BOTH
• Midgut volvulus
• Agangliosis
• Hypertrophic pyloric stenosis

Disorders of oesophagus
 Oesophageal atresia +/- Tracheo-oesophageal fistula
 Congenital oesophageal stenosis, webs and diverticula
 Extrinsic compression –foregut duplication cyst

Tracheo-oesophageal fistula
 Tracheo-oesophageal septum (5wks)
 1 in 5000 births
 M:F
 VACTERL anomalies
 Down’s syndrome

Types
 Most common
 EA with distal
fistula

Chest X-ray
 Dilated proximal esophageal pouch with coiled
nasogastric tube within is diagnostic
 air in the stomach and the small bowel

ANTENATAL USG
 : Oesophageal atresia
• polyhydramnios
• Distended proximal esophageal
pouch
• Small gastric bubble

CONTRAST STUDIES:
 Should be avoided, fear of aspiration
• Nonionic isoosmolar contrast medium
• H-type fistulas are mostly at the thoracic inlet,
between C7 and T2 vertebral bodies

Congenital stomach disorders
 Microgastria
 Gastric Atresia
 Antral Mucosal Diaphragm
 Duplication Cyst
 Malrotation

Microgastria
 Small, tubular, midline stomach
 Always associated with anomalies
 Failure to thrive

Antral Diaphragm
 Mucosal web positioned in the antrum
 If large enough, can cause gastric outlet
obstruction.

Congenital Hypertrophic Pyloric Stenosis
• 1 in 500, M>>F
• Present between 2-12 wks
• Clinical diagnosis : Mass palpation /Antral
peristaltic waves
Ultrasonography is the primary imaging
method

On USG
• Thickened hypoechoic pyloric muscle
• Double layer of echogenic mucosa
• Length >16mm
• Thickness >3.5 mm

Transverse section shows the– “Bull’s eye” sign.

Xray and Barium

• ‘STRING SIGN’ - hypertrophied muscle
mass causes elongation and narrowing of pyloric
canal
• “SHOULDER SIGN” -hypertrophy of the
pyloric muscle

Duodenal obstruction (Atresia ,Stenosis, Webs)
 Duodenal atresia (1 in 10000)
 Most common of all intestinal atresia
 25% Downs syndrome

ABDOMINAL RADIOGRAPH:
TYPICAL “DOUBLE-BUBBLE SIGN”

 Double bubble on
antenatal USG

Duodenal web
 Incomplete duodenal obstruction

Duodenal web
 intraluminal diverticulum
 Windsock sign

MALROTATION
Normal intestinal rotation
 Two Processes involved :
 Physiological midgut Herniation and Rotation : 6 wks -12 wks
 Fixation of mesentery :12 wks -20 wks

 6 weeks -physiologic herniation
of the midgut through the
umbilical orifice (UO).
Superior mesenteric artery (SMA)
acts as the axis
prearterial segment
postarterial limb

 90-degree counterclockwise rotation
 Predominant pre-arterial elongation
 By 12th week

Fixation
 By 3rd to 5th month there is
resorption of dorsal mesentery
The base of the normal small bowel mesentery

NONROTATION
 arrest of the midgut rotation after the first 90
degrees of rotation.

 entire colon lies in the left side
of abdomen

INCOMPLETE ROTATION AND
MALFIXATION
 Failure to complete the final 180-degree rotation.
 Shortened mesenteric root -allows formation of elongated and mobile
segments of colon.
 Midgut volvulus.

Classic malrotation
 Cecum lies left of the midline
 Fixed by Ladd bands (aberrant peritoneal
bands )

 REVERSED INTESTINAL ROTATION –
 Transverse colon lie behind the descending
duodenum and the superior mesenteric artery
 cecum is can be medially placed

Midgut volvulus
 Narrow mesentery
 Suddenly presents with bilious vomiting
 Ischemia and necrosis
 Plain radiograph

 corkscrew sign
 tapering or beaking of the bowel in complete
obstruction
 malrotated bowel configuration
Fluoroscopy: contrast study

Ultrasound
 clockwise whirlpool sign
 abnormal bowel
 dilated duodenum proximal to obstruction
 dilated fluid-filled loops of small bowel
 free intra-abdominal fluid

CT scan
 whirlpool sign
 malrotated bowel configuration
 bowel obstruction
 free fluid/free gas in advanced cases

Meckel’s Diverticulum
 congenital intestinal diverticulum
 omphalomesenteric duct fails to be completely obliterated
 Present with obstruction or ulceration
 Antimesenteric border
 Litters hernia

 Xray – non specific
 SBFT with a large Meckel
diverticulum

99MTC (TECHNETIUM -99M
PERTECHNETATE) SCANNING:
ectopic gastric tissue is found in a
Meckel's diverticulum

Mid to distal bowel defects
 High bowel obstruction – Bilious vomiting
 Low bowel obstruction – Failure to pass meconium (< 48 hrs)

Small Bowel Atresia /
High intestinal obstruction
Utero-vascular insults
Decreased intestinal perfusion
Ischaemia

 Dilated bowel loops proximal to atresia
 Triple bubble
PLAIN RADIOGRAPHY

 Enema may demonstrate Microcolon

Meconium peritonitis
 Bowel perforates as a result of bowel
obstruction, such as atresias or meconium ileus
 Meconium peritonitis and small bowel
obstruction is highly suggestive of atresia.

Low bowel obstruction
 Difficult to differentiate on X-ray
 Contrast enema is usually required
 Water soluble contrast is preferred

Meconium ileus
 Meconium consists of succus entericus
 Cystic fibrosis > 80%
 Meconium – viscid distal ileum and colon

Ultrasound appearance

Enteric Duplication Cyst
 embryological abnormalities that are lined by
intestinal mucosa
 distal ileum (35%) > distal esophagus (20%) >
stomach (9%) > duodenum > jejunum.

 ULTRASONOGRAPHY:
 Well defined, unilocular anechoic mass

Functional immaturity of colon
 Meconium plug syndrome/ small left colon
syndrome
 Immaturity of bowel innervation
 Change in caliber in splenic flexure

Hirschsprung’s Disease
 Absence of ganglion cells in bowel wall
 Transition point found in the rectosigmoid (73%) >
descending colon (14%) > more proximal colon
(10%).

 Barium enema
 Narrowed aganglionic segment
 irregular saw-toothed mucosal
pattern
 Recto-sigmoid ratio <1
abnormal

 Delayed radiographs (24 hours)  prolonged retention of barium (strong
indicator) when enema findings – inconclusive
 Confirmatory – rectal biopsy

Colonic Atresia
Distended loops of bowel similar to those seen in low small bowel obstruction.

Anorectal Anomalies
 Anal atresia: Vacterl association
 range from a membranous separation to complete
absence of the anus.
 RADIOGRAPH:
 Invertogram

 ULTRASOUND:
 Delineating distance from the distal pouch to perineum
 CYSTOGRAPHY:
 Delineates associated fistulas between terminal bowel and urinary
tract.
 CT & MRI
 Modalities of choice
 Help determine presence of puborectalis muscle, external sphincter
and rectal pouch.

THANK YOU

 fusiform manner and then
with preferential
 growth of its dorsal wall

Mesenteric Cyst (Lymphangioma)
 congenital malformation arising due to sequestration of lymphatic vessels.
 SONOGRAPHY:
 thin-walled unilocular or multilocular cystic lesion
 useful to demonstrate the thin septations which may not be well seen on CT.
 CT and MRI:
 demonstrate variable characteristics of the cyst contents (usually water-to fat) depending
upon whether fluid is chylous, infected or haemorrhagic.

Megacystis-microcolon-intestinal
Hypoperistalsis Syndrome (Berdon Syndrome)
 pseudoatresia.
 functional small bowel obstruction with a microcolon,
malrotation and a large unobstructed bladder
 UPPER GI CONTRAST STUDY:
 hypomotility of small bowel with retrograde peristalsis.

 • “DOUBLE TRACT SIGN” –
this refers to fluid, trapped in the
mucosal folds in the center of an
elongated pyloric canal seen as
two sonolucent streaks in the
center

THANK YOU