Pediatric Gastroenterology

Question 1

Stool

Answer 1

• Each individual will have his/her own stooling pattern and assessment should be individually tailored
  
  • some breastfed infants will have no bowel movements for seven to ten days
  • withholding behavior
  • toileting habits
  • change in environment (school, day-care, diet)

Question 2

constipation

Answer 2

• delay or difficulty with defecation
• variation with age:
  
  • newborn – first bowel movement in 24 hours
  • first week of life - average of 4 stools per day
    
    • breast-fed - usually above average
    • formula-fed - usually below average
  • two years of age - average two per day
  • four years of age - average of one per day
• Categories of constipation
  
  • Functional accounts for 95%- Without organic or biochemical cause.
  • Organic accounts for 5%
  • By and large you will see constipation that doesn’t need to be surgically corrected

Question 3

functional constipation

Answer 3

• Diet
• Transitions
  
  • Change from breast milk to formula
  • Introduction of solids
  • Formula to cow’s milk
  • Toilet training
  • Any new life changes
• Rule out organic disease
  
  • Delayed growth
  • Urinary incontinence, leg weakness, leg numbness
  • Failure to thrive
  • Vomiting, diarrhea
  • Delayed passage of meconium
  • Bloody stool
• Rome 4 criteria - diagnostic criteria for functional constipation
• If there is a real fight or they cry immediately if you are looking at the GU, you need to investigate further
• KNOW THE ALARM SIGNS
• • Treatment Principles
    
    • Treat early
    • Treatment will be longer than expected
    • Anticipate transitions
    • Behavior modification
      
      • encourage positive reinforcement
      • encourage child’s mastery over toileting
    • Medications
      
      • infant – increased water, prune or pear juice
      • toddler – same as infant and polyethylene glycol
      • school age - polyethylene glycol, magnesium
      • Enemas are avoided in the chronic setting – but they can offer great relief in acute setting
      • Avoid glycerin suppositories – families can become dependent on it.
        
        • If a baby doesn’t poop in first 24 hrs of life and you give a suppository, this tells you NOTHING about the possibility of Hirshprung disease
    • Some people will say they tried miralax and it didn’t work. This could be for a few reasons: some kids don’t like that it makes fluid more viscous, they are not having enocgh of the miralax, or they did not try miralax for long enough

Question 4

organic constipation

Answer 4

• Hirschprung disease
• Tethered cord
• Infantile botulismc
• Lead poisoning
• Cow’s Milk Intolerance
• Cystic fibrosis
• Hypothyroidism

Question 5

Hirschsprung disease

Answer 5

• motor disorder of the colon caused by the failure of neural crest cells to migrate completely during colonic development
• chronic constipation
• failure to thrive
• onset of symptoms in first week of life
• delayed passage of meconium
• abdominal distention
• vomiting
• a transition zone on a contrast enemc
• abdominal film – the abnormal section is the bottom part: has abnormal ganglion cells, the gut dilates and you can get toxic megacolon
• barium enema
• anorectal manometry
• rectal biopsy (gold standard) – looking for ganglion cells – if there are none, that is dx
• Treatment
  
  • excision of aganglionic segment
  • two stage surgery
    
    • colostomy placement
    • re-anastomosis
• megacolon
  
  • emergent management
    
    • fluid
    • antibiotics

Question 6

tethered cord

Answer 6

• This is what we are concerned about when we see sacral dimples and hair tufts in newborns
• Spinal cord is tethered to scar tissue or other areas and is not floating free
• Spectrum of this disease is spina bifida or openings to the skin
• Orthopedic abnormalities in LE (Photo 1)
• Sacral Dimple (2)
• Long hair on the lower back (3)
• A crooked gluteal crease (4)
• A lump of the lower back. (5)
• Changes in gait or walking.
• Pain or tingling the legs or back
• Curvature of the spine
• Trouble with bowel or bladder control, such as difficulty in toilet training in a toddler, loosing control in a toilet trained child or no being able to hold urine until getting to the bathroom.

Question 7

infantile botulism

Answer 7

• neuroparalytic syndrome from the action of a neurotoxin elaborated bycClostridium botulinum
• constipation – often the presenting symptom
• weakness
• feeding difficulties
• hypotonia
• drooling
• weak cry
• the severe problem with this is they go into severe respiratory failure
• Ex) kid comes in with constipation and over the next day has lost tone and is very weak – want to refer to ED for further evaluation

Question 8

other organic causes of constipation

Answer 8

• Cystic Fibrosis – caught on newborn screen
  
  • stool is thick and may become obstructive
  • meconium ileus develops
• Hypothyroidism
  
  • lethargy, slow movement, hoarse cry, feeding problems, macroglossia, umbilical hernia, dry skin
  • short stature

Question 9

organic cause workup

Answer 9

• Directed by history and exam but could include:cc
  
  • urinalysis and urine culture
  • CBC
  • thyroid function tests (TSH, thyroxine level)
  • lead level
  • plain abdominal film – for the parents to see how much stool buildup there is, not necessarily for you to make your diagnosis
  • barium enema
  • MRI of the spinal cord
  • anorectalmanometry
  • colonic transit studies
  • Testing for botulism toxin

Question 10

GI bleeding

Answer 10

• hematemesis
  
  • implies recent or ongoing hemorrhage proximal to the ligament of Treitz
• hematochezia
  
  • describes bring red or maroon colored stool suggests bleeding from the colon
• melena
  
  • black, tarry stool associated with bleeding proximal to the ileocecal valve

Question 11

approach to GI blood

Answer 11

• assess hemodynamics
• ascertain presence of blood
• identify bleeding source

Question 12

assess hemodynamics

Answer 12

• signs of decreased vascular volume
  
  • tachycardia
  • postural hypotension
  • pallor
  • prolonged capillary refill time

Question 13

is it really blood

Answer 13

• Bloody emesis and stool is a very common complaint, but many things can be confused for blood:
  
  • Food dyes (red drinks, beets)
  • Medications (Iron or bismuth containing preparations)
• Stool testing for blood should be done for confirmation of blood if it is unclear.
• False positive
  
  • meat
  • horseradish
  • turnips
  • bean sprouts
  • broccoli
  • cauliflower
  • tomatoes
  • fresh, red cherries
  • grapes
  • cantaloupes
• False negative
  
  • vitamin C
  • hemoglobin degradation
  • storage of specimens
    
    • > 4 days

Question 14

infant GI bleed

Answer 14

• Upper
  
  • swallowed maternal blood
    
    • postpartum
    • breast-source – if theyre breast feeding, ask about the moms nipples to see if baby is swallowing blood
  • reflux esophagitis
  • gastric ulcer
  • coagulopathy
• Lower
  
  • anal fissure
  • infectious colitis
  • allergic colitis/milk protein intolerance
  • swallowed maternal blood
  • malrotation with midgut volvulus
  • Hirschsprung’s disease
  • intestinal duplication
  • lymphonodular hyperplasia

Question 15

older child GI bleed

Answer 15

• Upper
  
  • Epistaxis
  • Mallory-Weiss tear – from vomiting
  • Gastritis
  • Peptic ulcer
  • Duodenitis
  • Tonsillitis/sinusitis
  • Medicationsesophageal varices
  • Coagulopathy
  • Tumors
  • pulmonary hemorrhage
• Lower
  
  • Infectious colitis
  • Henoch-Schönlein purpura
  • Meckel’s diverticulum
  • Juvenile polyp
  • Hemolytic-uremic syndrome

Question 16

swallowed maternal blood

Answer 16

• mother’s nipple and areola suffers plenty of trauma in the first few weeks
• long-term cracks can lead to feedings of breast-milk mixed with blood
• often difficult to see directly, often very painful
• Apt test of suspected blood differentiates fetal hemoglobin from maternal hemoglobin

Question 17

acute gastroenteritis

Answer 17

• acute inflammation of the GI tract usually due to infectious origin
• very common
• wide spectrum of presentation
  
  • anorexia
  • nausea & vomiting
  • diarrhea
  • fever
• distinguishing bacterial from viral
  
  • Bacterial is more likely with
    
    • presence of blood
    • WBC on smear (stool)
    • persistent fever
    • severe abdominal pain
    • risk factors (foreign travel, reptiles, suspect foods, etc.)

Question 18

viral acute gastroenteritis

Answer 18

• viruses
  
  • rotavirus
  • Norovirus virus
  • enteroviruses
• symptoms
  
  • vomiting
  • diarrhea
  • poor hydration
  • mild fever
• interventions for viral gastroenteritis
  
  • treatment
    
    • supportive care, fluid repletion
    • refeeding - no specific diet
    • agents
      
      • antiemetics
      • zinc
      • Lactobacillus supplements
  • prevention
    
    • handwashing
    • general hygienic measures
    • contact precautions
• if you have a kid who hasn’t been eating for a long time, you need to SLOWLY introduce foods!! You cant just give them a bunch of food all at once

Question 19

bacterial acute gastroenteritis

Answer 19

• Common Bacterial Pathogens
  
  • Salmonella
  • Shigella
  • Campylobacter
  • E. Coli
  • Yersenic
  • Clostridium Difficile
    
    • Community acquirec
    • Hospital acquired
• We don’t really treat bacterial diarrhea because in treating them, you cause them to release all of the endotoxins!

Question 20

parasitic causes of AGE

Answer 20

• Giardia
• Cryptosporidium
• Cystoisospora Belli
• Mircrosporidia and Cyclospora

Question 21

allergic colitis

Answer 21

• clinical features
  
  • healthy-appearing infants
  • fussiness
  • increased frequency of bowel movements
  • blood-tinged stools
  • age 1 week to several months (average 60 days)
• diagnosis
  
  • Symptoms- fussiness, blood in stool, emesis
  • withdrawal of allergen
  • re-challenge
  • biopsy (colonoscopy)
    
    • patchy erythema
    • loss of vascularity
    • eosinophilic abscesses
• Management
  
  • cow’s milk protein eliminated from diet/mother’s diet if breastfeeding
  • replacement with protein hydrolysate formula
    
    • Nutramigen
    • Alimentum
• Most infants do well with re-introduction of cow’s milk protein after four to five months

Question 22

Meckels diverticulum

Answer 22

• Ileal mucosal bleeding caused by heterotopic gastric mucosa (incomplete closure of omphalomesenteric duct)
  
  • acid production leading to ulceration
  • painless bleeding
  • anemia without many symptoms
• May be associated with intussusception or perforation
• Anemia
  
  • may be profound
  • may be occult
• technetium “Meckel’s” scan
• treatment
  
  • surgical excision
  • medical
    
    • acid reduction agents
    • treat anemia (Fe, erythropoietin, transfusion)

Question 23

Hemolytic uremic syndrome

Answer 23

• acute gastroenteritis – severe abdominal pain, may have bloody stool and brown urine.
  
  • E. coli 0157:H7
  • shiga-like toxin - attacks endothelial cells/activates immune response
  • intravascular coagulation occurs leading to hemolysis
  • hemolysis leading to
    
    • anemia
    • acute renal failure
  • consumption of platelets leads to thrombocytopenia
  • Classic Triad of HUS (anemia, uremia, thrombocytopenia)
• Kid comes in with hx of diarrhea 2-3 weeks ago

Question 24

Henoch-schonlein purpura

Answer 24

• Clinical presentation
  
  • Nephritis
  • Abdominal pain
  • Purpura – on lower extremities
  • Arthralgias
  • Swelling
  • This can sometimes be confusing for meningococcal dx – however they don’t have a fever and they look pretty well
• An Autoimmune Vasculitis – can also attack kidneys so you need to check urine
• Complications:
  
  • GI Bleeding
  • Intussusception
  • Renal failure

Question 25

Anal fissure

Answer 25

• most common cause of lower GI bleeding
• most cases secondary to constipation
• may be the result of sexual abuse
  
  • constipation should not create bruising, scarring, anogenital warts or other STDs around the anus

Question 26

inborn errors of metabolism

Answer 26

• Broad class of disorders that is the result of an error in a metabolic pathway.
• These errors can be from lack of an enzyme, its cofactors, biochemical transporters, and or buildup of a toxic compound.
• These disorders are very rare.
• IEM screening is included on the newborn screen.
• A negative newborn screen does not rule out disease.​
• When to suspect IEM?
  
  • These often present in the newborn period, but depending on the disorder and severity of disease it can present later on in life.
  • Times of stress can reveal IEM such as fever and fasting. – this is because the kid is stressed and does not have enough energy to compensate for these issues
  • Symptoms are varied and can include:
    
    • Lethargy
    • Seizures
    • Hypotonia
    • Sepsis-like picture
    • Vomiting
    • Poor feeding
    • Hypothermia
    • Abdominal distention (hepatomegaly)
• IEM Categories:
  
  • Carbohydrate Metabolism Defects
  • Protein Metabolism Defects
    
    • Amino Acidopathies
    • Organic Acidopathies
    • Urea Cycle Defects
  • Fat Metabolism Defects
  • Storage Disorders Lysosomal, Peroxisomal, Glycogen
  • Mitochondria Disorders

Question 27

Evaluation for IEM

Answer 27

• Testing for IEM is complicated and often requires the involvement of medical genetics.
• Newborn screen uses tandem mass spectrometry to look for levels of acylcarnitines and amino acids in the blood.
• Other testing:
  
  • Ammonia
  • Glucose
  • Plasma Amino Acids
  • Urine Organic Acids
  • Plasma acylcarnitine and carnitine analysis

Question 28

errors in carbohydrate metabolism

Answer 28

• Absence of enzyme to breakdown carbohydrate.
• Causes buildup of the substrate and this buildup becomes toxic and causes pathology.
• Severity of illness depends on what enzyme is affected.

Question 29

galactosemia

Answer 29

• Deficiency in galactose-1-phosphate uridyltransferase (GALT)
• Autosomal Recessive
• Presents in neonate following feeding with milk because body is unable to process galactose.
• Symptoms: liver failure, renal abnormalities, cataracts, and learning disabilities
• Often present with E.coli sepsis.
• Treatment based on removal of galactose from the diet.

Question 30

errors in protein metabolism

Answer 30

• Proteins are a string of amino acids that are broken down for energy and excess nitrogen needs to be excreted.
• Amino Acidopathies: Result of problem with removing ammonia group from first step of protein metabolism.
• Organic Acidopathies: Result of problem with removing intermediates of protein metabolism (deaminated proteins).
• Urea Cycle Defects: Problems with cycle that allows for ammonia group to be converted to urea for removal from body.
• • often occur when kid is sick and can’t process
• Amino Acidopathies: Build up of certain amino acids. No metabolic acidosis or hyperammonemia.
• Organic Acidopathies: Build up of organic acids results in metabolic acidosis. No hyperammonemia. Presentation: lethargy, vomiting, coma, death.
• Urea Cycle Defects: Defect in clearing ammonia. Hyperammonemia, no metabolic acidosis. Presentation: altered metal status, coma, seizure, death
• Treatment for all of these include protein restricted diet.

Question 31

phenylketonuria

Answer 31

• Deficiency in phenylanine hydroxylase that prevents metabolism of phenylalanine to tyrosine.
• Phenylalanine and phenylketones builds up in the tissue and causes brain damage, microcephaly, and eczematous rash.
• Treatment includes life long phenylalanine restriction.
• Women with PKU are at risk for PKU syndrome. Phenylalanine is a teratogen.

Question 32

errors in fatty acid metabolism

Answer 32

• Fatty acid metabolism is necessary in the body to maintain energy during times of fasting.
• Errors in fatty acid metabolism prevent the body from generating energy from fat stores to perform gluconeogenesis.
• These disorders are classified by the enzyme that is absent. (Enzymes are classified by the length of the fatty acid chain they work on.)
  
  • Medium Chain acyl-CoA dehydrogenase (MCAD)- MOST COMMON
  • Short Chain acyl-CoA dehydrogenase (SCAD)
  • Long Chain acyl-CoA dehydrogenase (LCAD)
  • Very Long Chain acyl-CoA dehydrogenase (VLCAD)

Question 33

Characteristics of FA metabolism

Answer 33

• Symptoms appear in infancy or childhood when children have prolonged periods during fasting or increase metabolic stress (fever).
• Labs are significant for hypoketotic hypoglycemia.
• Acylcarnitine Profile: Demonstrates pattern of acylcarnitines that have built up as a result enzyme deficiency.
• Presenting symptoms include:
  
  • Sudden death
  • Seizures
  • Lethargy

Question 34

MCAD

Answer 34

• most common one
  
  • MCAD breaks down medium chain fatty acids to short chain and acetyl Co-A.
  • Autosomal Recessive Disorder
  • Patients can present as early as day 2 or 3 of life with seizure or sudden death.
  • If caught prior to presentation (NBS – newborn screen), fasting states can be avoided and patients would be otherwise neurologically normal.
  • Carnitine supplementation is given as well – one of the reasons for. Carnitine supplementation – because you can’t break down fatty acids, you can’t break them down – carnitine is needed to shuttle them into and out of the cell – if you give more, you can move more fatty acids

Question 35

storage disorders

Answer 35

• Glycogen- Glycogen is storage form of energy. Disease result of inability of body to metabolize glycogen stores. Patients pre
• Lysosome- Organelles that are responsible for digesting large macromolecules. Defects can be in abnormal lysosome formation, enzyme deficiency, or in mechanisms involved in molecular transport.
• Peroxisome- Organelles that are involved in multiple cellular functions including: biosynthesis of bile acids, membrane phospholipids, and B-oxidation of long-chain fatty acids. Defects in peroxisomal enzyme function and biogenesis.

Question 36

mitochondrial disorders

Answer 36

• Mitochondria produce energy for the cell through oxidative phosphorylation. Disorders often affect organs with high energy needs: brain, muscle, and eye.