Congenital Anomalies of the Alimentary Tract

upper alimentary tract

mouth to stomach

optimal nutrition therapy after alimentary tract surgery is essential to avoid

overfeeding

following alimentary tract surgery once intestinal motility returns and feedings are gradually started the use of what source of nutrition should be considered

human milk

specific anomalies of upper alimentary tract

• cleft lip/palate

• esophageal atresia or tracheoesophageal fistula

• pyloric stenosis

cleft lip/palate

A congenital condition characterized by a split or opening in the upper lip and/or roof of the mouth (palate), which can occur separately or together, impacting feeding, speech, and appearance.

esophageal atresia + tracheoesophageal fistula

A congenital defect in which the esophagus does not connect properly to the stomach, leading to feeding difficulties and aspiration risks. It often occurs with tracheoesophageal fistula.

pyloric stenosis

A condition in infants where the pylorus, the opening from the stomach to the small intestine, is narrowed, causing projectile vomiting and dehydration. It typically requires surgical intervention to correct.

small intestine anomalies

• omphalocele

• gastroschosis

• congenital diaphragmatic hernia

• congenital obstruction: atresia, malrotation, volvulus

• meconium ileus

gastroschisis

A congenital defect in which an infant's intestines protrude outside of the body through a hole in the abdominal wall. This condition usually occurs to the right of the umbilical cord and requires surgical intervention after birth.

omphalocele (ahm-fa-lo-seal)

A congenital defect where the infant's intestines or other abdominal organs protrude into the umbilical cord, covered by a thin membrane. Unlike gastroschisis, the abdominal wall is intact.

volvulus

A condition in which the intestine twists around itself, leading to obstruction and blood supply compromise. This surgical emergency can cause severe pain and requires prompt intervention.

congenital diaphragmatic hernia

a birth defect in the diaphragm allowing abdominal contents to move into the thoracic cavity, potentially causing respiratory distress and other complications in the newborn.

meconium ileus

A condition in which the ileum becomes blocked due to thick, sticky meconium in newborns, often associated with cystic fibrosis. It can lead to bowel obstruction and requires surgical intervention.

large intestine anomalies

• Hirschsprung disease

• meconium plug

• imperforate anus

Hirschsprung disease

A congenital condition characterized by the absence of ganglion cells in the bowel wall, leading to a lack of peristalsis and resulting in severe constipation or intestinal obstruction. It primarily affects the rectum (narrowed) and sigmoid colon (enlarged), leading to bowel distension and requiring surgical intervention.

• not passing meconium in first 48 hrs

• swollen belly

• vomiting green or dark-colored fluid

• constipation

• poor weight gain and slow growth

• explosive release of stool after rectal exam

hirschsprung disease common in children with what other genetic condition

down syndrome or other inherited syndromes

meconium plug

Short-term delay in normal gut movement that blocks the large intestine (the colon). The stool forms a hard, rubbery cast or plug, but the physical makeup of the meconium is usually normal.

often associated with:

• maternal diabetes, prematurity, or magnesium treatment

meconium ileus strongly associated with what respiratory condition

cystic fibrosis

imperforate anus

A congenital defect where the anus is malformed or absent, leading to a blockage in the bowel. It can be diagnosed prenatally or at birth and may be associated with other anomalies.

feeding/nutrition challenges of the upper alimentary tract

• ingesting and retaining feedings

• gastroesophageal reflux

• oral feeding aversion

• aspiration

feeding/nutrition challenges of the small intestine

• digesting and absorbing feedings

• gastroesophageal reflux

• oral feeding aversion

• parenteral nutrition-associated cholestasis

feeding/nutrition challenges of the large intestine

excreting intestinal waste products

Regarding congenital alimentary tract anomalies and feeding/nutrition implications in which area (upper alimentary tract, small intestine, large intestine) are digestion and absorption affected

small intestine, not usually large intestine

Regarding congenital alimentary tract anomalies and feeding/nutrition implications in which area (upper alimentary tract, small intestine, large intestine) is long term PN expected

small intestine, provide central venous access early

enteral products used for the upper alimentary tract in preterms

• human milk (+HMF) @80-100 mL/kg/d

• preterm formula

• or both

enteral products used for congenital anomalies of the small intestine for preterms

• human milk (+ HMF @80-100 mL/kg/d)

• preterm formula: protein hydrolysate or amino acid-based formulas

• or both

hydrolysate formula

• protein that has been broken into short peptide chains

• infant still absorbs these as dipeptides and tripeptides (how the normal intestine prefers to absorb proteins)

hydrolysate formula examples

• Pregestimil

• Alimentum

amino acid-based (elemental) formula

• protein has been broken down all the way to individual amino acids

• no peptide bonds left

amino acid-based (elemental) formula examples

• Neocate Infant

• EleCare Infant

• PurAmino

Why not always use amino acid formulas?

• intestine is very efficient at absorbing small peptides

• Enterocytes have a transporter called PepT1 that rapidly transports dipeptides and tripeptides into the cell

So hydrolyzed formulas are often:

• physiologically normal,

• well absorbed,

• and less expensive than elemental formulas

Indications for amino acid-based or hydrolyzed formulas

• severe cow’s milk protein allergy

• failure to tolerate hydrolyzed formula

• severe malabsorptive disorders

  • SBS 2/2 NEC, midgut volvulus, intestinal atresia, gastroschisis with bowel loss

  • cholestatic liver disease

    • biliary atresia, PNAC

  • pancreatic insufficiency (rare)

  • severe mucosal injury: NEC, infectious enteritis

• rare congenital enteropathies

  • microvillus inclusion disease

  • congenital tufting enteropathy

  • congenital chloride or sodium diarrhea

  • Glucose-galactose malabsorption

  • Autoimmune enteropathy (rare in infancy

• significant gastrointestinal disorders

  • eosinophilic disease

Pregestemil

• hypoallergenic formula

• extensively hydrolyzed casein (cow’s milk protein) ~small peptides (not free aa) → easier protien absorption

• MCTs ~55% → easier fat absorption

cow’s milk protein allergy why hydrolyzed formula containing hydrolyzed casein (cow’s milk protein) doesn’t trigger immune response

• Many of the original epitopes have been destroyed.

• The protein can no longer fold into its original three-dimensional structure.

• Most infants' immune systems no longer recognize these tiny peptide fragments as "cow's milk protein."

→ 90% of infants with cow's milk protein allergy tolerate an extensively hydrolyzed formula

what is indicated in CMPA infant still symptomatic on hydrolyzed formula

Consider an amino acid-based formula or further evaluation for other underlying issues.

food protein-induced allergic proctocolitis (FPIAP)

a benign, non-IgE mediated immune reaction to food proteins affecting young infants, causing hematochezia and mucus in the stool, and typically resolving by one year of age

often associated with cow's milk or soy protein

• blood streaked/mucus stool

• mild fussiness

• gas or colic

• affected babies usually act healthy, feed well, and grow normally

allergic proctocolitis MNT

• eliminate dairy from maternal diet

• switch infant to EHL or elemental formula

hematochezia (hee·muh·tuh·kee·zee·uh)

the passage of fresh blood through the rectum, often indicating bleeding in the lower gastrointestinal tract.

eosinophilic colitis

a type of inflammatory bowel disease characterized by an elevated number of eosinophils in the intestinal lining, often manifesting as diarrhea, abdominal pain, and poor growth in infants and children.

enteral products used for congenital anomalies of the large intestine for preterms

• human milk (+HMF) @80-100 mL/kg/d

• preterm formula

• or both

Minimal enteral nutrition rate for congenital anomalies of all three areas

10-20 mL/kg/d

feeding rate progression in congenital anomalies of the upper alimentary tract and large intestine

40 ml/kg/d or less

feeding rate progression in congenital anomalies of the small intestine

• highly individualized

• MEN may be maintained for weeks

• feedings usually advance slowly: 10-20 mL/kg/d

time to reach full feedings in congenital anomalies of upper alimentary tract and large intestine

rapid: 1-2 weeks

time to reach full feedings in congenital anomalies of the small intestine

• could be slow

• weeks to months

• maintain PN

acute phase after surgery what is elevated

C-reactive protein (CRP)

provides less than what kcal/kg/d while serum CRP > 5 mg/dL

70 kcal/kg/d

in acute phase after surgery PN provision

aa: 2.5-3 g/kg/d

dextrose: 8.5 - 10 g/kg/d

lipids: 1-2 g/kg/d

severity of metabolic response to injury is reflected in

the level of C-reactive protein (CRP) in the serum.

what kinds of changes in what two lab values (proteins) indicate recovery post-op

• CRP ↓

  • indicates reduced metabolic stress

• prealbumin ↑

  • indicates resumption of anabolism

for preterm infants on protein hydrolysate or elemental formula consider what for imrproved nutritional adequacy

a transition to fortified human milk or preterm formula

when oral feedings must be delayed provide opportunities for

nonnutritive sucking at breast or pacifier if possible

aganglionosis

• simply the underlying cause of Hirschsprung disease

is a congenital condition characterized by the absence of ganglion cells in the bowel, leading to a lack of peristalsis and bowel obstruction.