Pediatric GI

Question 1

Normal pediatric bowel movement patterns:

Answer 1

● Newborns: Around 4 stools daily
● 0-3 months old:
○ Breastfed - average of 3 stools per day.
○ Formula-fed - average of 2 stools per day
● By age 2: usually average less than 2 BMs per day
● After age 4: average is slightly more than once a day

Question 2

Constipation is characterized by at least one of the following:

Answer 2

○ Difficult/painful defecation
○ Infrequent stools (often two or fewer per week)
○ Seemingly incomplete defecation
○ Passing large-caliber and hard stools (often with excessive straining)

Question 3

Functional Constipation

Answer 3

● No evidence of a primary anatomic or biochemical cause.
● Common Timing of Presentation:
○ Introduction of solid food in infants
○ During toilet training
○ Beginning school
○ Significant Life Stressors

Question 4

Contributing Factors to functional constipation

Answer 4

○ Painful Defecation from fissures, irritation, abuse, or hemorrhoids
■ Leads to withholding stool (Behavioral)
○ Toilet Training Issues
○ Dietary Factors: Large amounts of highly processed foods, less fruits,
vegetables, and fiber, and/or reduced fluid intake

Question 5

Infant dyschezia

Answer 5

Ineffective defecation, with straining in the absence of hard stools/constipation.
● A functional disorder, characterized by at least 10 minutes of straining and
crying before successful or unsuccessful passage of soft stools
● Occurs in infants younger than nine months old.
● Likely caused by failure to relax the pelvic floor during the defecation.
● Infants naturally have weaker abdominal muscle tone

Question 6

Non-Functional (Organic) Constipation

Answer 6

● Secondary to an underlying pathology.
● Accounts for less than 5% of pediatric constipation.
● More likely to present in the first months of life.

Question 7

Most Common Organic Causes of Non-Functional (Organic) Constipation

Answer 7

● Hirschsprung Disease
● Food Intolerances (including to cow’s
milk) and Celiac Disease
● Anorectal anomalies, including
imperforate or displaced anus
● Metabolic or endocrine abnormalities
(lead poisoning, hypokalemia,
↑or↓calcium, hypothyroidism

Question 8

Constipation history clues:

Answer 8

● May have overflow fecal incontinence (Can appear like they have diarrhea)
● Bladder issues such as nocturnal enuresis or symptoms of UTI can actually be
due to or co-occur with functional constipation (bowel bladder dysfunction).
Treating the constipation can often resolve bladder dysfunction.
● Apparent straining for an infant during defecation does not necessarily indicate
constipation (if soft stool, think dyschezia)

Question 9

Constipation abdominal exam:

Answer 9

● Abdominal exam: auscultate, palpate for pain (often LLQ), distention, or masses
○ Dullness to percussion can indicate impaction, obstruction, or constipation

Question 10

In peds with constipation, hair tuft or a “pit” superior to the sacrum can _____

Answer 10

indicate occult spinal dysraphism (Spina Bifida)

Question 11

“Red Flag” constipation exam findings that should lead to further work-up:

Answer 11

● Rectal bleeding (unless attributable to an anal fissure)
● Severe abdominal distension
● Stools with very narrow diameter - “Ribbon Stools”
● Weight loss, poor weight gain, or delayed growth
● Abnormal anal position

Question 12

What is the likely cause of Delayed passage of meconium, tight sphincter, empty or narrow ampulla?

Answer 12

Hirschsprung disease

Question 13

Diagnostic Studies for Constipation

Answer 13

● Testing is reserved for patients with suspected Non-Functional Constipation
● Depending on symptoms, may include:
○ Thyroid Panel (TSH, fT4)
○ Serum Calcium level
○ Celiac Disease Testing
○ Dairy Allergy Testing
○ Sweat Chloride Testing
○ Abdominal X-ray (if over 1 year old)
○ Barium Enema

Question 14

Treatment of Non-Functional Constipation is _____

Answer 14

based on the underlying disease and
may require urgent intervention.

Question 15

Treatment of Functional Constipation in Infants:

Answer 15

● Often respond to sorbitol-containing foods or juices (eg. apple, prune, or pear)
● Osmotic laxatives like Lactulose or sorbitol. Polyethylene glycol 3350 (Miralax)
can be used after 6 months old.
● Glycerin suppositories can be effective, but should not be used frequently
Constipation - Management
PED-GI-1
Warning: infants can become conditioned to depend on this!

Question 16

Treating Functional Constipation in Children:

Answer 16

● Parental education and behavioral interventions
○ Behavior management in children over 1 year if it’s contributing.
■ Scheduled toileting routines and positive reinforcement
■ Educate parents and remove negative attributions
● Dietary modifications are recommended for all patients
● Polyethylene glycol (PEG, Miralax)

Question 17

Osmotic laxative use in children:

Answer 17

● Chronic or prolonged treatment with osmotic laxatives is considered safe and
effective, including Miralax, magnesium hydroxide, and lactulose

Question 18

Imperforate Anus

Answer 18

Anorectal malformations include a wide spectrum of birth defects that can
occur with the anus.
● Sometimes the malformation is an
incomplete opening, or no opening
at all.

Question 19

Imperforate Anus pathophysiology

Answer 19

Likely due to early termination of the caudal descent of
the urorectal septum due embryologic development

Question 20

Characteristic Signs and Symptoms of Imperforate Anus

Answer 20

● Meconium not being passed within the first
24-48 hours after birth.
● Missing or malpositioned anal opening.
● Stool passing from the vagina, penis, or
scrotum.
● Abdominal distention
● Associated anomalies: VACTERL

Question 21

Imperforate Anus Diagnosis

Answer 21

● History and physical exam is usually sufficient for picking up the
diagnosis of imperforate anus. However…
● It is important to order certain diagnostic tests to evaluate the extent of the malformation and to look for
other developmental deformities:
○ Abdominal ultrasound (fistulas)
○ Abdominal X-ray
○ Spinal Ultrasound or MRI
○ Consider cystourethrography

Question 22

Management of Imperforate Anus

Answer 22

● Once imperforate anus has been identified, the newborn should NOT be fed,
but should receive IV fluids for hydration. (NPO)
● Treat life-threatening co-morbidities first
● Pediatric gastrointestinal surgeon should be urgently consulted.
● Definitive treatment requires surgery
● Prognosis is generally good and long-term, normal bowel functioning is common.

Question 23

Hirschsprung Disease

Answer 23

● Sometimes called Congenital Aganglionic Megacolon, it is a motor disorder
of the colon.
● It is caused by congenital absence of the lower intestine innervation
● Characterized by absence of neurologic ganglia
that normally innervate the colonic bowel wall.

Question 24

Hirschsprung Disease Pathophysiology

Answer 24

● Normally, several neural networks innervate the intestine, including the Meissner plexus and Auerbach plexus.
● These stimulate intestinal motility under the direction of the autonomic nervous system.
● In Hirschsprung Disease, these neural networks are congenitally absent, resulting in loss of intestinal motor function, and collapsed/narrow rectum
● Most often occurs in the rectosigmoid colon, but can occur in other areas as well

Question 25

Characteristic Signs and Symptoms of Hirschsprung Disease

Answer 25

● Most common presentation is delayed passage of the meconium at birth (>48 hours), or in an infant struggling with constipation since birth ● Other symptoms can include: ○ Bowel obstruction with bilious vomiting ○ Abdominal distention ○ Poor feeding or failure to thrive ○ Explosive expulsion of gas/stool after DRE (the “squirt” or “blast” sign) Characteristic Signs and Symptoms - ● The severity depends on the amount of intestines affected

Question 26

Hirschsprung Disease Diagnosis

Answer 26

● Rectal biopsy is the gold standard for diagnosis. ○ This will reveal the absence of ganglion cells. ● Abdominal X-rays with contrast enema will likely show distended loops of bowel with decreased gas present in the rectum

Question 27

Hirschsprung Disease management

Answer 27

● If Hirschsprung Disease is suspected, the child must be urgently referred to a pediatric surgical center. ● Definitive treatment is surgical resection of affected bowel

Question 28

Meconium Ileus

Answer 28

● Meconium Ileus is an intestinal obstruction (generally at the terminal ileum) with thickened meconium ● This most commonly occurs in neonates with Cystic Fibrosis (CF), and can be the first clue of the genetic disorder

Question 29

S/S of Meconium Ileus

Answer 29

● Failure to pass meconium within 24-48 hrs. ● Signs of intestinal obstruction can occur: ○ Bilious emesis ○ Abdominal distention

Question 30

Meconium Ileus diagnosis

Answer 30

● Plain abdominal X-ray is the recommended initial study ○ May show loops of distended bowel ● If there is no evidence of a perforation, water-soluble contrast enema radiography is then performed to confirm the diagnosis ● Perform testing for Cystic Fibrosis.

Question 31

Meconium Ileus Management

Answer 31

● Hyperosmolar Enema Administration ○ Usually with Gastrografin. ● Surgery is sometimes necessary for unsuccessful enemas or complicated disease

Question 32

How to tell Spitting up or vomiting?

Answer 32

○ Spitting up is usually seen in infants under the age of 1, usually within an hour of eating, and is not forceful ○ Vomiting is more forceful and is not necessarily associated with recent eating.

Question 33

Non-Bilious Vomit:

Answer 33

○ Gastric content that contains no evidence or minimal amounts of bile in the vomit. ○ In newborns, will usually be white.

Question 34

Bilious Vomit:

Answer 34

○ Evidence of bile in the vomit, usually with a green color. Green isn’t good! ○ Bilious vomit is concerning for an intestinal obstruction until proven otherwise

Question 35

Forceful vomiting in an infant 3-6 weeks can suggest ____

Answer 35

pyloric stenosis

Question 36

Blood in vomit Can suggest

Answer 36

bleeding from esophageal injury or mucosal injury from erosive esophagitis, gastritis, or peptic ulcer

Question 37

Periodic vomiting episodes can suggest

Answer 37

cyclic vomiting syndrome or cannabis hyperemesis syndrome

Question 38

Urgently evaluate for significant vomiting pathology in patients with:

Answer 38

○ Bilious, bloody, or projectile vomiting ○ Signs of acute abdomen, including severe pain, distention, etc ○ High fever ○ Persistent tachycardia or hypotension ○ Tachypnea - compensating for metabolic acidosis ○ Neck stiffness or photophobia

Question 39

The _____ is an evidence-based predictor of length of Emergency Room stay and need for IV rehydration.

Answer 39

Clinical Dehydration Scale (CDS)

Question 40

There is significant evidence in the literature stating that those with moderate to severe dehydration require ____

Answer 40

IV rehydration

Question 41

Physical Exam findings for vomiting

Answer 41

● In addition to the CDS criteria, always assess vitals to help with clinical assessment ● Abdominal exam - observe, auscultate, percuss, palpate ○ Hepatomegaly, splenomegaly (think EBV) ● Skin ○ Turgor (dehydration) ○ Petechiae or purpura ● Cardiac

Question 42

When to consider CBC, CMP, lipase, U/A based on vomiting?

Answer 42

If prolonged (usually >12 hrs neonate, >24 hrs <2 yo, >48 hrs in older children)

Question 43

Management of vomiting

Answer 43

● Continue diet as tolerated, including breastfeeding. ● If mild dehydration, give rapid oral fluid replacement ● For moderate to severe dehydration, or unable to tolerate oral rehydration: ○ Calculate fluid deficit and rehydration needs ○ Give rapid IV rehydration (LR or NS) based on calculation

Question 44

Most common anti nausea, antiemetics for children

Answer 44

■ Ondansetron (Zofran) ■ Diphenhydramine (Benadryl) - only if over 2 and caution sedation ■ Promethazine (Phenergan) - only if over 2 years old

Question 45

Pyloric Stenosis

Answer 45

● Hypertrophy of the pyloric sphincter in young infants (usually 1st 3-12 weeks) leads to a gastric outlet obstruction. ● Males are affected about 4 times more often than females. ● Occurs in firstborn males four times more often

Question 46

Pyloric Stenosis pathophysiology

Answer 46

● The pathogenesis of the thickened pyloric muscle is not extremely clear ● Continual vomiting due to the obstruction may result in a metabolic alkalosis

Question 47

S/S of pyloric stenosis

Answer 47

● The classic presentation is progressive, non-bilious, projectile vomiting immediately after eating, in infants 2-6 weeks old. These infants will have a strong appetite ● Weight loss and dehydration (Low urine output) are commonly present. ● An “olive-shaped” mass can be felt in the right upper quadrant in later stage disease

Question 48

Pyloric Stenosis Diagnosis

Answer 48

● Barium swallow study is was previously the test of choice and demonstrates a “string sign” at the pylorus ● The diagnostic imaging study of choice is Abdominal Ultrasound

Question 49

Pyloric Stenosis Management

Answer 49

● A Laparoscopic Pyloromyotomy is the definitive treatment of choice, although some surgeons still do the open procedure. ● During the procedure, the pyloric muscles are separated and opened. ● Prognosis is generally very good

Question 50

Diarrhea in children

Answer 50

● Diarrhea in children is the passage of unusually soft or liquid stools 3 or more times in 24 hours

Question 51

Your two priorities while assessing the child with diarrhea

Answer 51

■ Hydration Status and Rule Out Serious Illness

Question 52

Management of diarrhea in children:

Answer 52

○ Oral rehydration solution is the initial treatment in most children with acute diarrhea. ○ If Clinical Dehydration Scale suggests moderate to severe dehydration, IV fluid replacement (with LR or NS) is indicated. ○ Feeding can (and should) be continued - does not appear to result in persistent or increased diarrhea. ○ If bacterial or protozoal infectious cause is revealed, antimicrobial medications may be indicated.

Question 53

Water Deficit (L) =

Answer 53

Pre-illness weight (kg) - Illness weight (kg)

Question 54

Severe dehydration

Answer 54

Greater than 11-15% loss of body weight-

Question 55

If mild to moderate dehydration secondary to vomiting or diarrhea:

Answer 55

○ PO fluid replacement PED-GI-3,4 ● Avoid acidic fluids (No Orange Juice) ● Consider IV therapy if child shows signs of clinical worsening

Question 56

If moderate to severe dehydration:

Answer 56

start emergent, rapid IV replacement. ■ Start with 20 mL/kg bolus of Ringer Lactate or Normal Saline.

Question 57

Congenital Diaphragmatic Hernia

Answer 57

● A rare (1-4 cases / 10,000 live births) type of birth defect where the diaphragm forms with an abnormal opening. ● Abdominal organs then form in or push into the thoracic cavity through the defective diaphragm.

Question 58

Congenital Diaphragmatic Hernia pathophysiology:

Answer 58

○ As the fetus forms, the abdominal organs present in the thoracic cavity leave little room for the developing heart and lungs. ○ Babies born with this malformation generally have pulmonary atresia and poor cardiac function.

Question 59

Congenital Diaphragmatic Hernia S/S

Answer 59

○ Acute respiratory distress upon birth (or first hrs - days of life). ○ Barrel-shaped chest ○ Scaphoid-appearing abdomen ○ Absence of breath sounds on the ipsilateral side ○ If left-sided CDH, the heartbeat is displaced to the right d/t the shift in the mediastinum ○ Bowel sounds may be present in thoracic cavity

Question 60

Undersized and underdeveloped lungs with little to no normal diaphragm movement with congenital diaphragmatic hernia leads to:

Answer 60

○ Cyanosis ○ Tachypnea ○ Tachycardia

Question 61

Congenital Diaphragmatic Hernia Diagnosis

Answer 61

Prenatal - routine antenatal U/S screening Postnatal - Physical exam findings CXR reveals loops of bowel in the involved hemithorax with displacement of the heart and lungs.

Question 62

Congenital Diaphragmatic Hernia Management

Answer 62

○ Immediate intubation and mechanical ventilation is required. ○ Severe cases may require heart/lung bypass ventilation to help increase arterial oxygenation. ○ Emergency surgery is the required treatment. ○ Prognosis varies considerably, depending on extent of pulmonary development

Question 63

Phenylketonuria (PKU)

Answer 63

● A rare Autosomal Recessive Chromosomal Disorder that affects 1 in every 10,000-15,000 individuals. ● The mutation results in a deficiency of the hepatic enzyme phenylalanine hydroxylase ● This results in the inability to metabolize or breakdown the protein phenylalanine. ● Phenylalanine then accumulates in the CNS causing permanent neuronal damage

Question 64

S/S Phenylketonuria (PKU)

Answer 64

○ If left untreated, the accumulating phenylalanine can cause… ■ Seizures ■ Movement disorders ■ Hyperactivity ■ Behavioral abnormalities ■ Severe, irreversible intellectual disability ○ PKU patients also can have rash similar to infantile eczema.

Question 65

Phenylketonuria (PKU) diagnosis

Answer 65

○ PKU has been a main part of the newborn screening tool for many years now (to the point where many patients know this as the PKU tests; Many other disorders are also being checked). ○ Newborn screenings are done in the hospital before discharge and repeated at the 2 week WCC. ○ This demonstrates Hyperphenylalaninemia in those with PKU

Question 66

Phenylketonuria (PKU) management

Answer 66

○ Goal of treatment is to keep plasma levels of phenylalanine low to prevent intellectual disability. ○ Dietary modification is the treatment. ■ A low to no protein diet should be initiated immediately and continues throughout life. ■ Avoid aspartame ○ Supplements are available that provide phenylalanine-free protein.