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CONGENITAL ANOMALIES OF
GASTROINTESTINAL TRACT
PRESENTED BY : DR.POONAM (JR II)
GUIDE DR.ASHWINI CHANDA MA’AM ( SR )
Classification of congenital
anomalies of GIT
STRUCTURAL
EMBRYOLOGICAL
MALDEVELOPMENT
Malrotation
Oesophageal/ pyloric/
duodenal/jejunal/ileal
anorectal atresia
Duplication cyst
IN UTERO (ISCHEMIC)
COMPLICATIONS
FUNCTIONAL
Meconium plug syndrome
Intestinal hypoperistalsis
BOTH
Midgut volvulus
Agangliosis
Hypertrophic pyloric stenosis
ABDOMINAL WALL DEFECT
1) GASTROCHISIS
2) OMPHALOCELE
DEVELOPMENT OF GI TRACK
GASTROCHISIS
• Gastroschisis refers to an extra-abdominal
herniation (evisceration) of fetal or
neonatal bowel loops (and occasionally
portions of the stomach and or liver) into
the amniotic cavity through a para-
umbilical anterior abdominal wall defect.
OMPHALOCELE
OMPHALOCELE
Omphaloceles, also known as exomphalos
(rare plural: exomphali), are congenital
midline abdominal wall defects at the base
of the umbilical cord insertion, with
herniation of gut (or occasionally other
structures) out of the fetal abdomen.
OMPHALOCELE
• The risk of an associated
chromosomal anomaly is higher
when the omphalocele is
detected earlier in gestation
• Trisomy 18:
• Trisomy 13
• Trisomy 21
• Turner syndrome
• Klinefelter syndrome
Can be detected prenatally by maternal
raised serum alpha fetoprotein level.
DIFFERENCE BETWEEN GASTROSCHISIS AND
OMPHALOCELE
CHARACTERISTIC GASTROSCHISIS OMPHALOCELE
Defect size 2-3 cm 2-15 cm
Sac Never present Covered by peritoneal sac
Gestational age Prematuritity Term
Associated anamolies Uncommon Common ( 90 %)
Bowel character Inflammatory ,edematous Normal
Relation to umbilical cord Defect is right side of umbilical
cord
hernation of content through
umbilicus
Disorders of oesophagus
▶Oesophageal atresia +/- Tracheo-oesophageal fistula
▶Congenital oesophageal stenosis, webs and diverticula
▶Extrinsic compression –foregut duplication cyst
TRACHEO -OESOPHAGEAL FISTULA
• CLINICAL PRESENTATION :
- The presentation is usually in the first
few hours of life, with the newborn
having excessive oral secretions,
choking and
- Sometimes even cyanosis. Typically,
symptoms become
- More pronounced during the first feed
▶1 in 5000 births
▶M:F
▶ VACTERL anomalies
▶Down’s syndrome
Chest X-ray
 Dilated proximal esophageal pouch with coiled
nasogastric tube within is diagnostic
 Air in the stomach and the small bowel
Types
▶ Most common
 EA with distal
fistula
MOST COMMON TYPE
8 % 1 % 1% 4 %
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
 Clinical presentation
postprandial vomiting, failure to
thrive, developmental delay, growth
retardation, malnutrition
and aspiration pneumonia.
Antral Diaphragm
▶ Mucosal web positioned in the antrum
▶ If large enough, can cause gastric outlet
obstruction.
ABSENT STOMACH ON ANTENATAL SCAN
ABSENT STOMACH
ESOPHAGEAL OBSTRUCTION
1) Esophageal atresia.
2) Esophageal compression ( eg goiter tumor or masses in pharynx , lung or mediastinum)
DISORDERS AFFECTING SWALLOWING
1) Anatomical factors ( eg cleft palate)
2) Neurological disorders.
SEVER OLIGOHYDRAMINOS OR ANHYDRAMNIOS DISPLACEMENT OF THE STOMACH
1) Congenital diaphragmatic hernia.
2) Abdominal wall defects.
3) Heterotaxy syndrome
Congenital Hypertrophic Pyloric Stenosis
• Clinical diagnosis :
 Non-bilious vomiting
 Mass palpation /Antral peristaltic
waves
 Olive shaped palpated in subhepatic
region.
• 1 in 500, M>>F
• Present between 2-12 wks
Ultrasonography is the primary imaging
method
Xray
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.
Doughnut sign on USG Bull’s eye sign
• ‘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
Clinical features:
- Bilious vomiting in the first few
hours of life is the cardinal symptom
ABDOMINAL RADIOGRAPH:
TYPICAL “DOUBLE-BUBBLE SIGN”
Double bubble on antenatal USG
Other causes of
double bubble sign
are :
1) Annular pancreas.
2)Superior
mesentric artery
syndrome.
3)Volvulus.
Duodenal web
Incomplete duodenal
obstruction
Duodenal web
▶ Intraluminal diverticulum
▶ Windsock sign
Mid to distal bowel defects
▶ High bowel obstruction – Bilious vomiting
▶ Low bowel obstruction – Failure to pass meconium (< 48 hrs)
JEJUNAL AND ILEAL ATRESIA
JEJUNAL ATRESIA ILEAL ATRESIA
Caused by early vascular compromise of the
developing midgut.
Commonly associated with cystic fibrosis, thick
meconium can lead to ileal obstruction ( Meconium
ileus )
More likely to involve multiple sites Single site involvement
Associated with extra -GI anamolies and
chromosomal anamolies- 42 %
Less associated with extra -GI anamolies and
chromosomal anamolies- 2 %
JEJUNAL AND ILEAL ATRESIA ON ANC USG
The cutoff used to define dilated small bowel is greater than 7 mm for loop
diameter or greater than 13 mm for loop length.
Small Bowel Atresia /
High intestinal obstruction
Utero-vascular insults
Decreased intestinal perfusion
Ischaemia
▶ Dilated bowel loops proximal to atresia
▶ Triple bubble
PLAIN RADIOGRAPY
Enema may demonstrate Microcolon
Meconium ileus
 Meconium consists of succus entericus
 Cystic fibrosis > 80%
 The lack of normal pancreatic enzymes leads to
thick, tenacious meconium that collects in the distal ileum
and cecum, occluding its lumen and resulting in high-grade distal small
bowel obstruction.
 Meconium – viscid distal ileum and colon
Ultrasound appearance
Soap bubble sign
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
Anorectal Anomalies
▶ Anal atresia: VACTERL association
Range from a membranous separation to complete absence of
the anus.
▶RADIOGRAPH:
- Invertogram
INVERTOGRAM
A coin/metal piece is placed over the
expected anus and the baby is turned upside
down (for a minimum of 3 minutes).
The distance of the gas bubble in the rectum
from the metal piece is noted:
>2 cm denotes high type
<2 cm denotes low type
False-positives may occur if the image is
taken in the first 24 hours of life or if there is
impacted meconium within the distal rectum.
▶ ULTRASOUND:
▶ Delineating distance from the distal pouch to perineum
▶ CYSTOGRAPHY:
▶Delineates associated fistulas between terminal bowel and urinary tract.
▶MRI
▶Modalities of choice
▶Help determine presence of puborectalis muscle, external sphincter and
rectal pouch.
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
Enteric Duplication Cyst
▶ Embryological abnormalities that are lined by
intestinal mucosa- Typically have double
layer called GUT SIGNATURE
▶Distal ileum (35%) > distal esophagus (20%) >
stomach (9%) > duodenum > jejunum.
▶ ULTRASONOGRAPHY:
▶ Well defined, unilocular anechoic mass
MALROTATION
Normal intestinal rotation
▶ Two Processes involved :
 Physiological midgut Herniation and Rotation : 6 wks -12 wks
 Fixation of mesentery :12 wks -20 wks
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.
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 ROT
ATION –
▶ 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
Ultrasound
▶ Clockwise whirlpool sign
▶ Abnormal bowel
▶ D ilated duodenum proximal to obstruction
▶ D ilated fluid-filled loops of small bowel
▶ free intra-abdominal fluid
Whirlpool sign on USG
 Corkscrew sign
 Tapering or beaking of the bowel in
complete obstruction
 Malrotated bowel configuration
Fluoroscopy: contrast study
Meckel’s Diverticulum
▶ Congenital intestinal diverticulum
▶ Omphalomesenteric duct fails to
be completely obliterated
▶ Present with obstruction or
ulceration
▶ Antimesenteric border
▶ Litters hernia
Rule of twos”, i.e. it is found in
1)2% of the population,
2)Twice as common in males,
3)Most frequently found in
those less than 2 years of age
4)2 feet from the ileocecal
valve.
5) 2 inches in length.
6) Contain 2 mucosa - gastric
and intestinal.
▶ Xray – Non specific
▶ SBFT with a large Meckel
diverticulum
99MTC (TECHNETIUM -99M
PERTECHNETATE) SCANNING:
Ectopic gastric tissue is found in a
Meckel's diverticulum
Megacystis-microcolon-intestinal
Hypoperistalsis Syndrome (Berdon’s Syndrome)
• Megacystis-microcolon-
intestinal hypoperistalsis
syndrome
is a pseudoatresia. There is a
functional small bowel
obstruction with a microcolon,
malrotation and a large
unobstructed
bladder. There is four-to-one
female predominance with
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congenitalgastrointestinalanomalies-161121183124.pptx

  • 1. CONGENITAL ANOMALIES OF GASTROINTESTINAL TRACT PRESENTED BY : DR.POONAM (JR II) GUIDE DR.ASHWINI CHANDA MA’AM ( SR )
  • 2. Classification of congenital anomalies of GIT STRUCTURAL EMBRYOLOGICAL MALDEVELOPMENT Malrotation Oesophageal/ pyloric/ duodenal/jejunal/ileal anorectal atresia Duplication cyst IN UTERO (ISCHEMIC) COMPLICATIONS FUNCTIONAL Meconium plug syndrome Intestinal hypoperistalsis BOTH Midgut volvulus Agangliosis Hypertrophic pyloric stenosis ABDOMINAL WALL DEFECT 1) GASTROCHISIS 2) OMPHALOCELE
  • 4. GASTROCHISIS • Gastroschisis refers to an extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions of the stomach and or liver) into the amniotic cavity through a para- umbilical anterior abdominal wall defect.
  • 6. OMPHALOCELE Omphaloceles, also known as exomphalos (rare plural: exomphali), are congenital midline abdominal wall defects at the base of the umbilical cord insertion, with herniation of gut (or occasionally other structures) out of the fetal abdomen.
  • 7. OMPHALOCELE • The risk of an associated chromosomal anomaly is higher when the omphalocele is detected earlier in gestation • Trisomy 18: • Trisomy 13 • Trisomy 21 • Turner syndrome • Klinefelter syndrome Can be detected prenatally by maternal raised serum alpha fetoprotein level.
  • 8. DIFFERENCE BETWEEN GASTROSCHISIS AND OMPHALOCELE CHARACTERISTIC GASTROSCHISIS OMPHALOCELE Defect size 2-3 cm 2-15 cm Sac Never present Covered by peritoneal sac Gestational age Prematuritity Term Associated anamolies Uncommon Common ( 90 %) Bowel character Inflammatory ,edematous Normal Relation to umbilical cord Defect is right side of umbilical cord hernation of content through umbilicus
  • 9. Disorders of oesophagus ▶Oesophageal atresia +/- Tracheo-oesophageal fistula ▶Congenital oesophageal stenosis, webs and diverticula ▶Extrinsic compression –foregut duplication cyst
  • 10. TRACHEO -OESOPHAGEAL FISTULA • CLINICAL PRESENTATION : - The presentation is usually in the first few hours of life, with the newborn having excessive oral secretions, choking and - Sometimes even cyanosis. Typically, symptoms become - More pronounced during the first feed ▶1 in 5000 births ▶M:F ▶ VACTERL anomalies ▶Down’s syndrome
  • 11. Chest X-ray  Dilated proximal esophageal pouch with coiled nasogastric tube within is diagnostic  Air in the stomach and the small bowel
  • 12. Types ▶ Most common  EA with distal fistula MOST COMMON TYPE 8 % 1 % 1% 4 %
  • 13.
  • 14. ANTENATAL USG ▶ : Oesophageal atresia • Polyhydramnios • Distended proximal esophageal pouch • Small gastric bubble
  • 15. 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
  • 16. Congenital stomach disorders ▶ Microgastria ▶ Gastric Atresia ▶ Antral Mucosal Diaphragm ▶ Duplication Cyst ▶ Malrotation
  • 17. Microgastria ▶ Small, tubular, midline stomach ▶ Always associated with anomalies  Clinical presentation postprandial vomiting, failure to thrive, developmental delay, growth retardation, malnutrition and aspiration pneumonia.
  • 18. Antral Diaphragm ▶ Mucosal web positioned in the antrum ▶ If large enough, can cause gastric outlet obstruction.
  • 19. ABSENT STOMACH ON ANTENATAL SCAN ABSENT STOMACH ESOPHAGEAL OBSTRUCTION 1) Esophageal atresia. 2) Esophageal compression ( eg goiter tumor or masses in pharynx , lung or mediastinum) DISORDERS AFFECTING SWALLOWING 1) Anatomical factors ( eg cleft palate) 2) Neurological disorders. SEVER OLIGOHYDRAMINOS OR ANHYDRAMNIOS DISPLACEMENT OF THE STOMACH 1) Congenital diaphragmatic hernia. 2) Abdominal wall defects. 3) Heterotaxy syndrome
  • 20. Congenital Hypertrophic Pyloric Stenosis • Clinical diagnosis :  Non-bilious vomiting  Mass palpation /Antral peristaltic waves  Olive shaped palpated in subhepatic region. • 1 in 500, M>>F • Present between 2-12 wks Ultrasonography is the primary imaging method
  • 21. Xray
  • 22. On USG • Thickened hypoechoic pyloric muscle • Double layer of echogenic mucosa • Length >16mm • Thickness >3.5 mm
  • 23. Transverse section shows the– “Bull’s eye” sign. Doughnut sign on USG Bull’s eye sign
  • 24. • ‘STRING SIGN’ - hypertrophied muscle mass causes elongation and narrowing of pyloric canal • “SHOULDER SIGN” -hypertrophy of the pyloric muscle
  • 25. Duodenal obstruction (Atresia ,Stenosis, Webs) ▶ Duodenal atresia (1 in 10000)  Most common of all intestinal atresia  25% Downs syndrome Clinical features: - Bilious vomiting in the first few hours of life is the cardinal symptom
  • 26.
  • 28. Double bubble on antenatal USG Other causes of double bubble sign are : 1) Annular pancreas. 2)Superior mesentric artery syndrome. 3)Volvulus.
  • 30. Duodenal web ▶ Intraluminal diverticulum ▶ Windsock sign
  • 31. Mid to distal bowel defects ▶ High bowel obstruction – Bilious vomiting ▶ Low bowel obstruction – Failure to pass meconium (< 48 hrs)
  • 32. JEJUNAL AND ILEAL ATRESIA JEJUNAL ATRESIA ILEAL ATRESIA Caused by early vascular compromise of the developing midgut. Commonly associated with cystic fibrosis, thick meconium can lead to ileal obstruction ( Meconium ileus ) More likely to involve multiple sites Single site involvement Associated with extra -GI anamolies and chromosomal anamolies- 42 % Less associated with extra -GI anamolies and chromosomal anamolies- 2 %
  • 33. JEJUNAL AND ILEAL ATRESIA ON ANC USG The cutoff used to define dilated small bowel is greater than 7 mm for loop diameter or greater than 13 mm for loop length.
  • 34. Small Bowel Atresia / High intestinal obstruction Utero-vascular insults Decreased intestinal perfusion Ischaemia
  • 35. ▶ Dilated bowel loops proximal to atresia ▶ Triple bubble PLAIN RADIOGRAPY
  • 36. Enema may demonstrate Microcolon
  • 37. Meconium ileus  Meconium consists of succus entericus  Cystic fibrosis > 80%  The lack of normal pancreatic enzymes leads to thick, tenacious meconium that collects in the distal ileum and cecum, occluding its lumen and resulting in high-grade distal small bowel obstruction.  Meconium – viscid distal ileum and colon
  • 39. 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.
  • 40. Low bowel obstruction ▶ Difficult to differentiate on X-ray ▶Contrast enema is usually required ▶Water soluble contrast is preferred
  • 41. Anorectal Anomalies ▶ Anal atresia: VACTERL association Range from a membranous separation to complete absence of the anus. ▶RADIOGRAPH: - Invertogram
  • 42. INVERTOGRAM A coin/metal piece is placed over the expected anus and the baby is turned upside down (for a minimum of 3 minutes). The distance of the gas bubble in the rectum from the metal piece is noted: >2 cm denotes high type <2 cm denotes low type False-positives may occur if the image is taken in the first 24 hours of life or if there is impacted meconium within the distal rectum.
  • 43. ▶ ULTRASOUND: ▶ Delineating distance from the distal pouch to perineum ▶ CYSTOGRAPHY: ▶Delineates associated fistulas between terminal bowel and urinary tract. ▶MRI ▶Modalities of choice ▶Help determine presence of puborectalis muscle, external sphincter and rectal pouch.
  • 44. Hirschsprung’s Disease ▶ Absence of ganglion cells in bowel wall ▶ Transition point found in the rectosigmoid (73%) > descending colon (14%) > more proximal colon (10%).
  • 45. ▶ Barium enema  Narrowed aganglionic segment  Irregular saw-toothed mucosal pattern  Recto-sigmoid ratio <1 abnormal
  • 46.  Delayed radiographs (24 hours)  prolonged retention of barium (strong indicator) when enema findings – inconclusive  Confirmatory – rectal biopsy
  • 47. Enteric Duplication Cyst ▶ Embryological abnormalities that are lined by intestinal mucosa- Typically have double layer called GUT SIGNATURE ▶Distal ileum (35%) > distal esophagus (20%) > stomach (9%) > duodenum > jejunum.
  • 48.
  • 49. ▶ ULTRASONOGRAPHY: ▶ Well defined, unilocular anechoic mass
  • 50. MALROTATION Normal intestinal rotation ▶ Two Processes involved :  Physiological midgut Herniation and Rotation : 6 wks -12 wks  Fixation of mesentery :12 wks -20 wks
  • 51.
  • 52. Fixation ▶ By 3rd to 5th month there is resorption of dorsal mesentery The base of the normal small bowel mesentery
  • 53. NONROTATION ▶ arrest of the midgut rotation after the first 90 degrees of rotation.
  • 54. 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.
  • 55. Classic malrotation ▶ Cecum lies left of the midline ▶ Fixed by Ladd bands (aberrant peritoneal bands )
  • 56. ▶ REVERSED INTESTINAL ROT ATION – ▶ Transverse colon lie behind the descending duodenum and the superior mesenteric artery ▶ cecum is can be medially placed
  • 57. Midgut volvulus ▶ Narrow mesentery ▶ Suddenly presents with bilious vomiting ▶ Ischemia and necrosis ▶ Plain radiograph
  • 58. Ultrasound ▶ Clockwise whirlpool sign ▶ Abnormal bowel ▶ D ilated duodenum proximal to obstruction ▶ D ilated fluid-filled loops of small bowel ▶ free intra-abdominal fluid Whirlpool sign on USG
  • 59.  Corkscrew sign  Tapering or beaking of the bowel in complete obstruction  Malrotated bowel configuration Fluoroscopy: contrast study
  • 60. Meckel’s Diverticulum ▶ Congenital intestinal diverticulum ▶ Omphalomesenteric duct fails to be completely obliterated ▶ Present with obstruction or ulceration ▶ Antimesenteric border ▶ Litters hernia Rule of twos”, i.e. it is found in 1)2% of the population, 2)Twice as common in males, 3)Most frequently found in those less than 2 years of age 4)2 feet from the ileocecal valve. 5) 2 inches in length. 6) Contain 2 mucosa - gastric and intestinal.
  • 61. ▶ Xray – Non specific ▶ SBFT with a large Meckel diverticulum
  • 62. 99MTC (TECHNETIUM -99M PERTECHNETATE) SCANNING: Ectopic gastric tissue is found in a Meckel's diverticulum
  • 63. Megacystis-microcolon-intestinal Hypoperistalsis Syndrome (Berdon’s Syndrome) • Megacystis-microcolon- intestinal hypoperistalsis syndrome is a pseudoatresia. There is a functional small bowel obstruction with a microcolon, malrotation and a large unobstructed bladder. There is four-to-one female predominance with