0327 Congenital Anomalies Rutter

Congenital Anomalies

Tracheoesophageal Fistula and Esophageal Atresia

Incidence1/3,000 - 1/4,500 live births
Embryology- failure of separation of ventral diverticulum of foregut into tracheal and esophageal
channels (~day 28 gestation)
Other anomalies
VATER (VACTERL) syndrome
30 - 40% have significant associated anomalies
Clinical Manifestations
o Maternal polyhydramnios
o Nasogastric catheter ends in blind pouch
o Excessive oral secretions
o Choking, episodic cyanosis, or coughing
Diagnosis
o Unable to pass radiopaque catheter into stomach from nose (x-ray)
o Esophageal Atresia with Tracheoesophageal Fistula- distal intestinal gas (except if fistula is
proximal)
o Esophageal Atresia without Tracheoesophageal Fistula- gasless abdomen
o Water-soluble contrast media- caution!
o Additional studies for associated anomalies
Treatment
o Surgical emergency
o Preoperative management
Prone position or elevate head of bed
Placement of sump catheter into pouch
Temperature control
Respiratory function
Fluids and electrolytes
Find and manage associated anomalies
Possible gastrostomy tube

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Gastroschisis
Defect in the abdominal wall not including the umbilicus
Umbilical cord is to the left of hernia defect with separation by
skin
Absence of peritoneal sac over the contents
Hernia contains small intestine and rarely portions of liver
Thickened eviscerated bowel loops covered by gelatinous
material (peel)
More adequately developed abdominal cavity than with large
omphaloceles
Infarction or atresia of herniated bowel can occur
Infrequent association with other major anomalies
Postnatal Gastroschisis Management
o Temperature control - radiant warmer
o Adequate fluids and electrolytes
o Antibiotic prophylaxis (Ampicillin and Gentamicin)
o Ventilator care
o Prompt surgery
Omphalocele
Abdominal wall defect through the umbilicus
Intestine fails to return to the abdominal cavity during gestation
Viscera usually covered by a peritoneal sac and amniotic membranes unless
ruptured
High percentage have other congenital defects:
o Cardiac defects
o Beckwith-Wiedemann Syndrome (somatic overgrowth, macroglossia, hyperinsulinemic
hypoglycemia, risk for Wilms tumor)
o Anomalies of the urinary tract (extrophy of bladder, vesicointestinal fissures)
Less emergent, but must support infant as much as necessary
ABCs of resuscitation
Temperature control
Ventilator care
Surgical closure- Occasionally in stages to allow the bowel to fit into the small abdominal cavity
Anorectal Malformation
Spectrum of defects
Range from simple to complex anomalies
1/4,000 live births
Diagnosis:
o Females- 90% anorectal abnormalities identified by good physical examination

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o Single opening = cloaca
Treatment
o Perineal fistula- anoplasty
without a colostomy (during the
newborn period)
o Other defects- colostomy
during the newborn period with
corrective surgery later (1-12
months)
Pyloric Stenosis
Hypertrophy and spasm of the
pyloric muscle
General Epidemiology
o 6-8/1000 live births
o First born child
o Males 5:1 Females
o Northern European ancestry
o Offspring to mothers with
pyloric stenosis at higher risk
o 20% if male -- 10% if female
o Increased if type B or O blood
o Associated with other anomalies, eg. TE fistula
Etiology
o Multi-factorial
o Identical twins (monozygotic > dizygotic)
o Elevated levels of prostaglandin- stimulus for contraction and
maintains tone
o Reduced levels of pyloric nitric oxide synthetase (reduced inhibitory
neuronal signals)
o Hypergastrinemia
Clinical Manifestations
o Non bilious vomiting (projectile, progressive)
o Onset is around the 3rd week of age (varies from 1st wk to 5th month)
o Ravenous hunger initially progressing to lethargy
o Distended stomach
o Peristaltic waves LUQ
o Palpable Olive- not commonly felt
o Dehydration, electrolyte imbalances (hypochloremic, hypokalemic metabolic alkalosis)
o Increased BUN
Diagnosis
o Plain films- enlarged stomach, decreased gas in intestine
o Ultrasound
Diagnostic tool of choice
4 mm thick pylorus muscle
14 mm long pylorus
o Barium Upper GI
Elongated pyloric channel (string sign)
Bulge of pyloric muscle into the antrum (shoulder sign)
Parallel steaks of barium in narrowed channel (double tract sign)
Differential diagnosis
o Anxious caretakers
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o Chalasia (relaxation of the esophageal sphincter), hiatal hernia, GE reflux
o Adrenal insufficiency
o Metabolic disorders
o Surgical problems: pyloric or duodenal membrane, duodenal stenosis, duodenal duplication
Preoperative
o Not an emergency for surgery
o Hydration and electrolytes repaired, alkalosis repaired
Surgical
o Pyloromyotomy- Pylorus muscle incised longitudinally
Treatment: Post Operative
o Vomiting from edema of pylorus
o May initiate feedings 12-24 hours post surgery
o Persistence in vomiting suggests:
Incomplete pyloromyotomy
Gastritis
Hiatal hernia
Chalasia
Another cause of obstruction

Duodenal Atresia
Embryology
o Weeks 6-7 GI tract occluded
o Weeks 8-10 Failure to recanalize
1/20,000-40,000 live births
25 to 40% of all intestinal atresias
Associated anomalies
o Down Syndrome in 20-30%
o Malrotation
o Esophageal atresia
o Congenital heart disease
o Anorectal anomalies
o Renal anomalies
o Biliary Atresia
o Vertebral anomalies
Clinical Manifestations
o Bilious emesis
o May have epigastric distension
o Vomiting usually begins within 24-48
hours of life
o Peristaltic waves may be present
o History of polyhydramnios
Diagnosis:
o Abdominal radiography double-bubble sign
o Contrast studies not needed usually unless suspect malrotation or volvulus
o Ultrasonography helpful
Treatment: Medical
o Decompression of stomach by suction
o Echocardiogram
o Renal ultrasound
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o Radiology exam of chest and spine for other anomalies (1/3 of duodenal atresia have life-
threatening congenital anomalies)
Treatment: Surgical
Duodenoduodenostomy
Incidental appendectomy performed

Malrotation/volvulus
Malrotation
o 1/200-1/500 live births
o Embryology of rotation of gut
o Mesentery and superior mesenteric artery are tethered
by a narrow stalk (can twist forming midgut volvulus)
o Ladds bands (abnormal mesenteric attachments) can
obstruct duodenum
Clinical Manifestations:
o Symptoms of acute or chronic obstruction within 1st year
of life
o Bilious emesis, acute bowel obstruction--Newborn
o Recurrent abdominal pain, mimics colic--older infants
Diagnosis:
o Radiographic studies
o Upper gastrointestinal study with small bowel follow through
o Plain abdominal study nonspecific; may have the double- bubble
sign
o Barium enema reveals malposition of cecum
Treatment:
o Surgical after stabilization- Ladds Band procedure

Meckel Diverticulum
Remnant of embryonic yolk sac (incomplete obliteration of
omphalomesenteric duct or vitelline duct)
Rule of 2
o 2% of population
o Male to Female 2:1
o Within 2 feet of the ileocecal valve
o 2 inches long
o 2% have complications
o 60% with complications are younger than 2 years old
Clinical Manifestations
o Due to ectopic gastric mucosa (acid secreting cells)- Painless rectal bleeding (intermittent)
o Stool is brick colored
o of Meckel Diverticula do not have gastric mucosa and therefore do not bleed

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Diagnosis:
o Diagnosis depends upon clinical presentation
o Painless rectal bleeding
o Technetium 99m pertechnetate scan (Meckel Scan)
Enhanced by H2 blockers given 24-48 hours before the scan
(cimetidine, ranitidine)
Treatment- surgery