GITCongenital Abnormalities

By Dr Mohammad Manzoor Mashwani

GI tractA hollow tube extending from

the oral cavity to the anus. Consists of esophagus, stomach, small

intestine, colon, rectum, and anus.

CONGENITAL ABNORMALITIES• Atresia, Fistulae, and Duplications• Diaphragmatic Hernia, Omphalocele,

and Gastroschisis • Ectopia• Meckel Diverticulum• Pyloric Stenosis• Hirschsprung Disease

Atresia, Fistulae, and Duplications • Atresia, fistulae, and duplications may occur in any

part of the GI tract. • Esophageal Atresia: cause regurgitation during

feeding. These must be corrected promptly, since they are incompatible with life.

• A thin, noncanalized cord replaces a segment of esophagus, causing a mechanical obstruction. Proximal and distal blind pouches connect to the pharynx and stomach, respectively.

•

Atresia occurs most commonly at or near the tracheal bifurcation and is usually associated with a fistula connecting the upper or lower esophageal pouches to a bronchus or the trachea.

Fistulae can lead to aspiration, suffocation, pneumonia, and severe fluid and electrolyte imbalances.

Esophageal atresia is associated with congenital heart defects, genitourinary malformations, and neurologic disease.

. Intestinal atresia is less common than esophageal

atresia but frequently involves the duodenum and is characterized by a segment of bowel lacking a lumen.

Imperforate anus, the most common form of congenital intestinal atresia, is due to a failure of the cloacal diaphragm to involute.

Esophageal atresia and tracheoesophageal fistula. A, Blind upper and lower esophageal segments. B, Blind upper segment with fistula between lower segment and trachea. C, Fistula between patent esophagus and trachea. Type B is the most common.

StenosisStenosis is an incomplete form of atresia in which

the lumen is markedly reduced in caliber as a result of fibrous thickening of the wall, resulting in partial or complete obstruction.

Stenosis may involve any part of the GI tract, although the esophagus and small intestine are affected most often.

Stenosis can also be caused by inflammatory scarring, as may occur with chronic gastroesophageal reflux, irradiation, scleroderma, or caustic injury.

Congenital duplication cysts

Are saccular or elongated cystic masses that contain redundant smooth muscle layers. These may be present in the esophagus, small intestine, or colon.

Diaphragmatic Hernia

Diaphragmatic hernia occurs when incomplete formation of the diaphragm allows the abdominal viscera to herniate into the thoracic cavity.

When severe, the space-filling effect of the displaced

viscera can cause pulmonary hypoplasia that is incompatible with life after birth.

Omphalocele• An omphalocele is a birth defect in which

• the infant's intestine or other abdominal organs stick out of the belly button (navel). In babies with an omphalocele, the intestines are covered only by a thin layer of tissue and can be easily seen.

• An omphalocele is a type of hernia. Hernia means "rupture.

Gastroschisis Gastroschisis represents a congenital defect characterized by a defect

in the anterior abdominal wall through which the abdominal contents freely

protrude.

Gastroschisis is similar to omphalocele except that it

involves all of the layers of the abdominal wall, from the peritoneum to the skin.

Ectopia •

Ectopic tissues (developmental rests)

are common in the GI tract. The most frequent site

of ectopic gastric mucosa is the upper third of the esophagus, where it is referred to as an inlet patch. While generally asymptomatic, acid released by gastric mucosa within the esophagus can result in dysphagia, esophagitis, Barrett esophagus, or, rarely, adenocarcinoma.

•Ectopic pancreatic tissue occurs less frequently and can be found in the esophagus or stomach. Like inlet patches, these nodules are most often asymptomatic but can produce damage and local inflammation.

• When ectopic pancreatic tissue is present in the pylorus, inflammation and scarring may lead to

obstruction. Because the rests may be

present within any layer of the gastric wall, they can mimic invasive cancer.

Gastric heterotopia• Gastric heterotopia, small patches of ectopic

gastric mucosa in the small bowel or colon, may present with occult blood loss due to peptic ulceration of adjacent mucosa.

Meckel Diverticulum

• A true diverticulum is a blind outpouching of the alimentary tract that is lined by mucosa, communicates with the lumen, and includes all three layers of the bowel wall.

• The most common type is the Meckel diverticulum, which occurs in the

ileum.

• The Meckel diverticulum occurs as a result of

failed involution of the vitelline duct, which connects the lumen of the developing gut to the yolk sac. This solitary diverticulum is a small pouch extending from the antimesenteric side of the bowel. It is a true diverticulum with a wall that includes mucosa, submucosa, and muscularis propria.

“rule of 2s”• Meckel diverticulae occur in approximately 2% of

the population,• are generally present within 2 feet (85 cm) of the

ileocecal valve,• are approximately 2 inches (5 cm) long,

• are twice as common in males as in females, • and are most often symptomatic by age 2

(although only 4% of Meckel diverticulae are ∼symptomatic).

• The mucosal lining of Meckel diverticulae may resemble that of normal small intestine, but ectopic pancreatic or gastric tissue may also be present.

• The latter may result in peptic ulceration of adjacent small intestinal mucosa and present with occult bleeding or abdominal pain resembling acute appendicitis or intestinal obstruction.

Meckel diverticulum. The blind pouch is located on the antimesenteric side of the small bowel

• Less commonly, congenital diverticulae occur in other parts of the small intestine and ascending colon.

• Virtually all other diverticulae are acquired and either lack muscularis entirely or have an attenuated muscularis propria.

• Although acquired diverticulae may occur in the esophagus, stomach, and duodenum, the most

common site is the sigmoid colon.

Pyloric Stenosis • more common in males • Monozygotic twins have a high rate of

concordance, • Family studies suggest a complex polygenic

inheritance. • Turner syndrome and trisomy 18 are also

associated with the disease. Congenital hypertrophic pyloric stenosis generally presents in the second or third week of life as new-onset regurgitation and persistent, projectile, nonbilious vomiting.

• Physical examination reveals hyperperistalsis and a firm, ovoid abdominal mass. Edema and inflammatory changes in the mucosa and submucosa may aggravate the narrowing. Surgical splitting of the muscularis (myotomy) is curative.

• Acquired pyloric stenosis occurs in adults as a consequence of antral gastritis or peptic ulcers close to the pylorus.

• Carcinomas of the distal stomach and pancreas may also narrow the pyloric channel due to fibrosis or malignant infiltration.

Hirschsprung DiseaseCongenital Megacolon

• Hirschsprung disease occurs in approximately 1 of 5000 live births. It may be isolated or occur in combination with other developmental abnormalities; 10% of all cases occur in children with Down syndrome and serious neurologic abnormalities are present in another 5%.

Pathogenesis. • Hirschsprung disease, also known as congenital

aganglionic megacolon, results when the normal migration of neural crest cells from cecum to rectum is arrested prematurely or when the ganglion cells undergo premature death. This produces a distal intestinal segment that lacks both the Meissner submucosal and the Auerbach myenteric plexus (“aganglionosis”). Coordinated peristaltic contractions are absent and functional obstruction occurs, resulting in dilation proximal to the affected segment.

• The mechanisms underlying defective neural crest cell migration in Hirschsprung disease are unknown, but a genetic component is present in nearly all cases and 4% of patients' siblings are affected. However, simple Mendelian inheritance is not involved in most cases. Heterozygous loss-of-function mutations in the receptor tyrosine

kinase RET account for the majority of familial cases and approximately 15% of sporadic cases.

Morphology Diagnosis of Hirschsprung disease requires

documenting the absence of ganglion cells within the affected segment. Because migration of neural crest cells in the Meissner and Auerbach plexi are linked, it is possible to establish the diagnosis preoperatively by examining suction biopsy specimens. In addition to their characteristic morphology in hematoxylin and eosin (H&E)-stained sections, ganglion cells can be identified using immunohistochemical stains for acetylcholinesterase.

• The rectum is always affected, but the length of the additional involved segments varies widely. Most cases are limited to the rectum and sigmoid colon, but severe cases can involve the entire colon. The aganglionic region may have a grossly normal or contracted appearance, while the normally innervated proximal colon may undergo progressive dilation.

• With time the proximal colon may become massively distended (megacolon), reaching

diameters of as much as 20 cm. Dilation may stretch and thin the colonic wall to the point of rupture, which occurs most frequently near the cecum. Mucosal inflammation or shallow ulcers may also be present.

• These changes proximal to the diseased segment can make gross identification of the extent of aganglionosis difficult. Hence, intraoperative frozen-section analysis of transmural sections is commonly used to confirm the presence of ganglion cells at the anastamotic margin.

Hirschsprung disease. A, Preoperative barium enema study showing constricted rectum (bottom of the image) and dilated sigmoid colon. B, Corresponding intraoperative photograph showing constricted rectum and dilation of the sigmoid colon.

Clinical Features

• a failure to pass meconium in the immediate postnatal period. Obstructive constipation follows,

• The major threats to life are enterocolitis, fluid and electrolyte disturbances, perforation, and peritonitis.

• The primary mode of treatment is surgical resection of the aganglionic segment and anastamosis of the normal colon to the rectum.

• .

Acquired megacolonAcquired megacolon may occur at any age as a result

of• Chagas disease, • obstruction by a neoplasm or inflammatory

stricture, • Toxic megacolon complicating ulcerative colitis,

visceral myopathy, • or in association with functional psychosomatic

disorders. Of these, only Chagas disease is associated with loss

of ganglia