GASTROINTESTINAL BIRTH DEFECTS

Dr Edwin Walong. MBChB, MMed (Path), FC Path ECSA

Lecturer, Anatomic Pathology Unit, Department of Human Pathology, CHS, UoN.
MBChB IV Systemic Pathology Series.

University of Nairobi ISO 9001:2008 1 Certified http://www.uonbi.ac.ke

Birth Defects, Terminology
• Isolated defects – Affect single body region, Etiology - multifactorial
• Multiple defects – usually due to chromosomal/Mendelian
inheritance
Isolated Birth Defects, Terminology
• Anomaly – any deviation from the expected or average type in
structure. Major anomalies requier
• Malformation – morphological defect an organ, or larger region,
resulting from an intrinsically abnormal developmental process
• Dysplasia (in the context of congenital malformations) – abnormal
disorganization of cells into tissue and its morphologic result.
Example: Peutz – Jegher’s syndrome
• If dysplasias result in a mass- hamartoma eg Hepatic Mesenchymal
Harmatoma
Birth Defects, Terminology
• Disruptions – morphologic defect resulting from the extrinsic
breakdown or interference with an originally normal developmental
process
• Deformation – abnormal form, shape or position of a part of the
body caused by mechanical forces
• Sequence – pattern of multiple anomalies derived from a single
known or presumed prior anomaly or mechanical factor,
• example: Potter’s sequence (renal agenesis resulting in
oligohydramnios, pulmonary hypoplasias, etc), Prune Belly sequence
– absence of abdominal muscles, attenuation of smooth muscle
without differentiation into circular and longitudinal muscle
Birth defect combinations
• Associations – non random (idiopathic) occurrence of multiple
congenital anomalies during blastogenesis eg Catch, Vater
• syndrome – multiple anomalies thought to be pathogenetically
related and not representing a sequence eg Beckwith – Wiedeman
syndrome (11p1.5) - macroglossia
• Quantitative terminology
• Hypertrophy
• Atrophy
• Aplasia
• agenesis
Pathogenesis of Gastrointestinal Birth Defects
• Defects of pregenesis – ploidy (Imperforate anus, trisomy 18, etc)
• Anomalies of blastogenesis – associations eg vater, schisis;
teratogens eg fetal alcohol syndrome, diabetes
• Anomalies of organogenesis – teratogens such as thalidomide, anal
stenosis at age 33-34 days
• Abnormalities of phenogenesis – 8 weeks to birth
Objectives
Objectives
Objectives
Head and Neck
• Jaw Anomalies:
• Micrognathia (Robin sequence, Down’s syndrome)

• Lip anomalies
• Clefting
• Microstomia
• Lip pits
• Labial frenulae
• synechiae
Palatal Clefts

1-2 per 1000 live births

L.M. Elden and K.B. Zur (eds.), Congenital Malformations of the
Head and Neck, 87
Beckwith Wiedeman syndrome

• Chromosome 11 likely deletions

• Failure of fusion of sutures
• Abdominal defects
• Organomegaly: pancreas, kidney,
liver
• Polyhydramnios
• hyperinsulinism
Oral cavity
• Cysts and pseudocysts • Nasopharyngeal
• Mucoceles • Cystic lesions – brachial pouch
• Ranulas cysts
• Teratomas
• Heterotopias (brain, pituitary
• Congential tumours
• Choristomas
• Epulis • Pharyngeal
• Second brachial arch
• 3rd and 4th brachial arch
Summary
• Oral and pharyngeal birth defects, common
• Associated with significant morbidity and mortality
• Can be treated with surgery
• When present, there may be underlying gastrointestinal or
multisystemic congenital malformations
Esophagus
• Short esophagus
• Esophageal atresia and Tracheo-esophageal fistula
• Esophageal cysts and duplications
• Congenital esophageal stenosis
Esophagus
• Short esophagus
• Esophageal atresia and Tracheo-esophageal fistula
• Esophageal cysts and duplications
• Congenital esophageal stenosis
Esophageal atresia and tracheoesophageal
fistula
• Seen in 1:3000 live births
• Presentation: polyhydramnious
• Frequently coexist with foregut duplications and bronchopulmonary
foregut malformations
• Follwing surgical repair: tracheomalasia, abnormal or lack of a
muscularis propria, abnormalities of the Auerbach plexus
Types
Common types of esophageal fistulae
Esophagus
• Short esophagus
• Esophageal atresia and Tracheo-esophageal fistula
• Esophageal cysts and duplications
• Congenital esophageal stenosis
Tracheal agenesis
Cysts
• Esophagus 20%
• Thoracoabdominal 4%
• Gastric 7%
• Duodenal 5%
• Jejunoileal 44%
• Colonic 15%
• Rectal 5%
Esophageal cysts and duplications
• Confusing nomenclature eg
• dorsal enteric remnants, posterior mediatinal cysts, dorsal
enteric cysts, enterocysts, enterogenous cysts, neurenteric cysts,
persistent neurenteric canal, diverticula, giant diverticula,
thoracic duplications of the intestine
• Duplications: cystic or tubular replicas of a segment of the
GIT
• Communicating and non communicating remnants
• Freqently share muscularis propria, or may be intramural
• Mucosa – associated epithelium
Esophageal duplication cyst, thorax
Neurenteric remnants
• Frequently called split notochord syndrome
• Include diverticula, fistulas, cysts and fibrous cords that originate
from the dorsal midline of the GI tract
• Extend in a cranial direction
• Attach to or pass through the vertebral column and spinal cord cranial
to enteric origins
• Walls are composed of all layers of the GIT
• Ectopic neuroglial tissue and occasionally leptomeningeal tissue may
be found
Classification
Complications
• Obstruction
• Perforation
• Abnormal function of the spinal cord associated with the neurenteric
remnants, chemical meningitis
• Rare: malignancy
Stomach
• Congenital agastria
• Gastric atresia and stenosis
• Infantile hypertrophic pyloric stenosis
• Gastric duplication
• Neonatal gastric perforation
• heterotopia
Infantile congenital pyloric stenosis
• 1 – 8 :1000 live births
• Concentric hyperplasia,
hypertrophy, fibrosis and
elastosis of pyloric muscle
• Onset 3-5 weeks of age
• Palpable epigastric mass
Development of the Intestines and Bowels
• Midgut is initially connected to the yolk sac and terminates at the
cloacal membrane
• There are two mechanical processes: elongation and rotation
• Elongation of the midgut results in an umbilical hernia
• Rotation occurs around a mesenteric axis, establishes the anatomical
position of the large intestine within the peritoneal cavity
• Migration of the neural crest cells into the wall establishes the enteric
nervous system
• Secretions accumulate, resulting in postnatal bowel movement -
meconium
Small and Large intestines
• Hernias and abdominal wall defects
• Congenital atresias and stenoses
• Malrotation
• Duplications
• Congenital diverticula, including omphalomesenteric remnants &
Meckel’s diverticulum
• Heterotopias
Omphalocele (exomphalos)
• Anterior abdominal wall defect at the insertion of the umbilical cord
• This occurs in 1:5000 to 1:20000
• Umbilical site, replaced by a sac formed of amnion and peritoneum
• Defect: can be a few cm to major portions of the abdominal wall
• Associations: Chromosome 13, 18 and 21, Beckwith – Wiedeman
syndrome
Omphalocele
Omphalocele
Gastroschisis (laparoschisis)
• Small defects of the abdominal
wall to the right of the umbilical
cord insertion allowing
evisceration of the umbilical
cord
Omphalocele vs Gastroschisis
Cloacal extrophy
Congenital Atresias and Stenosis
• Majority (75% intestinal, 50% duodenal)
• Annular pancreas – complete encircling of the duodenum by the
pancreas
• Apple Peel syndrome is a type of atresia
Annular pancreas
Types of intestinal atresias
Type IIIB, Apple Peel
Apple Peel
Congenital Diverticula
• Mesenteric or antimesenteric
• Merkel’s diverticulum, persistence of the vitelline duct immediately
adjuscent of to the bowel wall (affects 2% of individuals)
diverticula
Merkel’s diverticula
Merkel’s diverticula
Merkel’s Diverticulum
Development of the abdominal viscera,
rotation
Malrotation
Malrotation, Mid gut volvulus
Hirschsprung Disease (Aganglionic
megacolon)
Hirschsprung
Anorectal Malformations
• Involves 1:2500 live births, 60% male, 40% female
• Pathogenesis is poorly understood
Anorectal Malformations
Others (read)
• Neonatal gastrointestinal disease
• Hepatic birth defects: agenesis, biliary atresia, hepatoblastoma
• Alpha 1 antitrypsin deficiency
Conclusion
• Gastrointestinal malformations are common pathology
• Good prognosis when diagnosed early and definitive surgical
management instituted in severe disease
• Association with other congenital malformations eg VACTERL may be
seen