Gastroenterology

Question 1

_____ is the best test for diagnosis of chronic vomiting.

For vomiting infant, an ____ is often one of the first tests.

Answer 1

Endoscopy is the best test for diagnosis of chronic vomiting.

For vomiting infant, an upper GI series is often one of the first tests. Upper GI is good for showing anatomic or motility problems only (malrotation, pyloric stenosis, esophageal stricture, antral webs, achalasia). What it does NOT do is diagnose pathologic reflux.

Question 2

Globus

• Functional esophageal disorder characterized by a sensation of a lump or foreign body in the throat
• Path: Not well understood.
  
  • ______ has been reported in many globus patients.
  • May be psychosomatic. Association with stress
• Pt:
  
  • Globus has been described as a sensation of a retained food bolus or tightness in the throat that is not due to an underlying structural lesion, GERD, or esophageal dysmotility disorder. The sensation can worsen with swallowing saliva and become less noticeable with swallowing food or liquids.
  • Always present even when not trying to eat
• Dx: A thorough hx and physical exam is usually sufficient for a diagnosis.
• Tx:______

Answer 2

Globus

• Functional esophageal disorder characterized by a sensation of a lump or foreign body in the throat
• Path: Not well understood.
  
  • GERD has been reported in many globus patients.
  • May be psychosomatic. Association with stress
• Pt:
  
  • Globus has been described as a sensation of a retained food bolus or tightness in the throat that is not due to an underlying structural lesion, GERD, or esophageal dysmotility disorder. The sensation can worsen with swallowing saliva and become less noticeable with swallowing food or liquids.
  • Always present even when not trying to eat
• Dx: A thorough hx and physical exam is usually sufficient for a diagnosis.
• Tx: Reassure that globus is a benign disorder.
  
  • There are reports that globus sensation improves after initiating PPIs.

Question 3

Dysphagia

- ____ is an important tool to diagnose structural anomalies of the upper intestine.

Answer 3

Dysphagia

- Upper GI series is an important tool to diagnose structural anomalies of the upper intestine.

Question 4

Bilious emesis

• Bilious emesis in a neonate or infant should prompt consideration for intestinal obstruction.
• Bilious emesis in neonate must be evaluated immediately with an _____.

Answer 4

Bilious emesis

• Bilious emesis in a neonate or infant should prompt consideration for intestinal obstruction.
• Bilious emesis in neonate must be evaluated immediately with an upper GI contrast study.

Question 5

Cyclic vomiting syndrome
- Strong association with family hx of _______

• Pt: Recurrent, stereotypical bouts of vomiting with intervening periods of normal or baseline health; without an identifiable organic cause
• Diagnosis
  
  • Rome IV criteria, include all within 6 month period
    
    • > =2 periods of intense, unremitting nausea and paroxysmal vomiting that last hours-days within in a 6mo period
    • Episodes are stereotypical for each patient regarding onset (acute) and duration (<1 week)
    • Episodes are separated by weeks-months with return to baseline health between episodes
    • After appropriate medical evaluation, the symptoms cannot be contributed to another condition.
  • NASPGHAN criteria
    
    • At least 5 attacks in any interval, or a min of 3 attacks during 6-month period
    • Episodic attacks of intense nausea and vomiting lasting 1 hour - 10 days and occurring at least 1 week apart
    • Stereotypical pattern and symptoms in the individual patient
    • Vomiting during attacks occurs at least 4 times/hour for at least 1 hour
    • Return to baseline bw episodes
    • Not attributed to another disorder. Lack of lab or radiographic evidence to support an alternative diagnosis.
• Tx:
  
  • Reassurance
  • Supportive therapy is focused on hydration and relief from nausea, vomiting, and abdominal pain.
    
    • Avoidance of triggers
    • ____ is often used to abort the acute episode.
  • Prophylactic therapy
    
    • _______, an antihistamine, is the 1st line tx for cyclic vomiting syndrome in children __ years old to prevent future episodes; the exact mechanism is unclear
      
      • ____ in children >__ years old
    • 2nd line tx is prophylaxis with _____ for children of all ages

Answer 5

Cyclic vomiting syndrome
- Strong association with family hx of migraines

• Pt: Recurrent, stereotypical bouts of vomiting with intervening periods of normal or baseline health; without an identifiable organic cause
• Diagnosis
  
  • Rome IV criteria, include all within 6 month period
    
    • > =2 periods of intense, unremitting nausea and paroxysmal vomiting that last hours-days within in a 6mo period
    • Episodes are stereotypical for each patient regarding onset (acute) and duration (<1 week)
    • Episodes are separated by weeks-months with return to baseline health between episodes
    • After appropriate medical evaluation, the symptoms cannot be contributed to another condition.
  • NASPGHAN criteria
    
    • At least 5 attacks in any interval, or a min of 3 attacks during 6-month period
    • Episodic attacks of intense nausea and vomiting lasting 1 hour - 10 days and occurring at least 1 week apart
    • Stereotypical pattern and symptoms in the individual patient
    • Vomiting during attacks occurs at least 4 times/hour for at least 1 hour
    • Return to baseline bw episodes
    • Not attributed to another disorder. Lack of lab or radiographic evidence to support an alternative diagnosis.
• Tx:
  
  • Reassurance
  • Supportive therapy is focused on hydration and relief from nausea, vomiting, and abdominal pain.
    
    • Avoidance of triggers
    • Ondansetron is often used to abort the acute episode.
  • Prophylactic therapy
    
    • Cyproheptadine, an antihistamine, is the 1st line tx for cyclic vomiting syndrome in children <5 years old to prevent future episodes; the exact mechanism is unclear
      
      • Amitriptyline (TCAs) in children >5 years old
    • 2nd line tx is prophylaxis with propranolol for children of all ages

Question 6

Irritable Bowel Syndrome

• Pt:
  
  • Pain typically in lower abdomen
  • Hallmark: _____________
  • Growth and appetite are normal.
  • If a pt has constipation one day, normal stools another day, and loose stools another, then it’s IBS!
• Diagnostic criteria for IBS for >2 months:
• Must include all of the following:
  - 1. Abdominal pain >=____ days/month associated with >1 of following
  - Related to defecation
  - A change in frequency of stool
  - A change in form (appearance of stool)
  - 2. In children with constipation, pain does not resolve with resolution of constipation (children in whom the pain resolves have functional constipation, not IBS)
  - 3. After appropriate evaluation, symptoms cannot be fully explained by another medical condition
• Tx:
  
  • Nonpharmacologic interventions, such as ____ and _____, have bene shown to be some of the most effective treatments!
  • Diet modification (increased water, increasing fiber, decreasing sorbitol/fructose/gas-producing foods)
  • _____ has been shown to be effective in reducing pain
  • _____ may be helpful to alter the intestinal flora.

Answer 6

Irritable Bowel Syndrome

• Pt:
  
  • Pain typically in lower abdomen
  • Hallmark: Pain that improves with defecation and frequent changes in stool caliber or frequency.
  • Growth and appetite are normal.
  • If a pt has constipation one day, normal stools another day, and loose stools another, then it’s IBS!
• Diagnostic criteria for IBS for >2 months:
• Must include all of the following:
  - 1. Abdominal pain >=4 days/month associated with >=1 of following
  - Related to defecation
  - A change in frequency of stool
  - A change in form (appearance of stool)
  - 2. In children with constipation, pain does not resolve with resolution of constipation (children in whom the pain resolves have functional constipation, not IBS)
  - 3. After appropriate evaluation, symptoms cannot be fully explained by another medical condition
• Tx:
  
  • Nonpharmacologic interventions, such as exercise and psychotherapy, have bene shown to be some of the most effective treatments!
  • Diet modification (increased water, increasing fiber, decreasing sorbitol/fructose/gas-producing foods)
  • Peppermint oil has been shown to be effective in reducing pain
  • Probiotics may be helpful to alter the intestinal flora.

Question 7

Signs and symptoms of concern that suggest an organic etiology include / Alarm features in children with chronic abd pain:

• Symptoms
  
  • Pain that awakens the child at night
    
    • Nighttime awakening from pain: Classic test question! Suspect ______.
  • Unexplained intermittent fever
  • Weight loss, delayed puberty
  • Dysphagia/odynophagia
  • Blood/hemoccult positive stool
  • Chronically loose stools, significant diarrhea
  • Bilious emesis or protracted vomiting
  • Oral ulcers
  • Arthritis
  • Fever
  • Unusual rash
  • Family hx of IBD, celiac, or PUD
• Physical Exam
  
  • Weight loss, deceleration of linear growth
  • Localized tenderness that is not periumbilical, Localized RUQ or RLQ tenderness
  • CVA tenderness
  • Hepatosplenomegaly
  • Perianal skin tag, fissure, fistula, or abscess
  • Grossly bloody or hemoccult positive stool
  • Delayed puberty

Answer 7

Signs and symptoms of concern that suggest an organic etiology include / Alarm features in children with chronic abd pain:

• Symptoms
  
  • Pain that awakens the child at night
    
    • Nighttime awakening from pain: Classic test question! Suspect H pylori infection.
  • Unexplained intermittent fever
  • Weight loss, delayed puberty
  • Dysphagia/odynophagia
  • Blood/hemoccult positive stool
  • Chronically loose stools, significant diarrhea
  • Bilious emesis or protracted vomiting
  • Oral ulcers
  • Arthritis
  • Fever
  • Unusual rash
  • Family hx of IBD, celiac, or PUD
• Physical Exam
  
  • Weight loss, deceleration of linear growth
  • Localized tenderness that is not periumbilical, Localized RUQ or RLQ tenderness
  • CVA tenderness
  • Hepatosplenomegaly
  • Perianal skin tag, fissure, fistula, or abscess
  • Grossly bloody or hemoccult positive stool
  • Delayed puberty

Question 8

Functional Dyspepsia (“Indigestion”)

• Pt:
  
  • Midepigastric area and is strongly correlated with meals
  • Normal growth
• Diagnostic criteria
  
  • Must include >=1 of following >=4 days/month for >=2 months:
    
    • 1. Postprandial fullness
    • 2. Early satiation
    • 3. Epigastric pain or burning not associated with defecation
    • 4. After appropropriate evaluation, symptoms cannot be fully explained by another medical criteria
• Tx:
  
  • Acid blockade with ___ blocker or ____ for pain predominant symptoms
  • As many as 50% of pts respond to acid suppression although there is no acid-related damage.

Answer 8

Functional Dyspepsia (“Indigestion”)

• Pt:
  
  • Midepigastric area and is strongly correlated with meals
  • Normal growth
• Diagnostic criteria
  
  • Must include >1 of following >4 days/month for >2 months:
    
    • 1. Postprandial fullness
    • 2. Early satiation
    • 3. Epigastric pain or burning not associated with defecation
    • 4. After appropropriate evaluation, symptoms cannot be fully explained by another medical criteria
• Tx:
  
  • Acid blockade with H2 blocker or PPI for pain predominant symptoms
  • As many as 50% of pts respond to acid suppression although there is no acid-related damage.

Question 9

Abdominal Migraine

• Diagnostic criteria
  
  • Must include all of the following criteria
    
    • 1. Paroxysmal episodes of intense, acute periumbilical pain lasting for >=1 hour, occurred >=2x in the span of 6 months
    • 2. Pain interferes with normal function
    • 3. Pain-free periods lasting weeks-months
    • 4. Stereotypical pattern and symptoms in individual pt
    • 5. Pain associated with >=2 of the following: ___, ___, ___, ___, ___, or ____
    • 6. No evidence of organic etiology

Answer 9

Abdominal Migraine

• Diagnostic criteria
  
  • Must include all of the following criteria
    
    • 1. Paroxysmal episodes of intense, acute periumbilical pain lasting for >=1 hour, occurred >=2x in the span of 6 months
    • 2. Pain interferes with normal function
    • 3. Pain-free periods lasting weeks-months
    • 4. Stereotypical pattern and symptoms in individual pt
    • 5. Pain associated with >=2 of the following: anorexia, nausea, vomiting, headache, photophobia, or pallor
    • 6. No evidence of organic etiology

Question 10

Functional abdominal pain syndrome (“Chronic recurrent abdominal pain syndrome”)

• Pt: Chronic abdominal pain (= 2 months duration) in children wo alarm findings who do not meet criteria for other functional abd pain disorders
  
  • Pain is typically periumbilical
  • Growth is normal and appetite not affected.
  • Symptoms tend to get better on the weekends and during vacations and worse in the morning before school or in the evening before bed.
• Ask about social stressors
• Dx:
  
  • Must be fulfilled >4x/month for 2 months and include all of the following:
    
    • 1. Episodic or continuous abd pain that does not occur solely during physiologic events (eg eating, menses)
    • 2. Insufficient criteria for IBS, functional dyspepsia, or abdominal migraine
    • 3. After appropriate evaluation, abd pain cannot be fully explained by another medical condition.
• Tx: Reassurance.

Answer 10

Functional abdominal pain syndrome (“Chronic recurrent abdominal pain syndrome”)

• Pt: Chronic abdominal pain (= 2 months duration) in children wo alarm findings who do not meet criteria for other functional abd pain disorders
  
  • Pain is typically periumbilical
  • Growth is normal and appetite not affected.
  • Symptoms tend to get better on the weekends and during vacations and worse in the morning before school or in the evening before bed.
• Ask about social stressors
• Dx:
  
  • Must be fulfilled >4x/month for 2 months and include all of the following:
    
    • 1. Episodic or continuous abd pain that does not occur solely during physiologic events (eg eating, menses)
    • 2. Insufficient criteria for IBS, functional dyspepsia, or abdominal migraine
    • 3. After appropriate evaluation, abd pain cannot be fully explained by another medical condition.
• Tx: Reassurance.

Question 11

A: Isolated EA \_\_%
B: EA + proximal TEF <1%
C: EA + distal TEF \_\_\_%
D: EA + double TEF <1%
E/H: Isolated TEF \_\_\_%

Answer 11

A: Isolated EA 8%
B: EA + proximal TEF <1%
C: EA + distal TEF 87%
D: EA + double TEF <1%
E/H: Isolated TEF 4%

Question 12

Tracheoesophageal fistula and esophageal atresias

• Path: Occurs when there is improper separation of the esophagus from the trachea; interruption of the developmental process during the 4th week of gestation.
• A clue for esophageal abnormalities prenatally is ~50% of these mothers have ____
• Most common abnormalities:
  
  • Nearly 90% of tracheoesophageal abnormalities present as a blind, upper EA with a fistula between a lower esophageal segment and lower portion of the trachea, near the carina
• Associations:
  
  • Nearly ⅓ of infants have other congenital anomalies. Most common association is ____
• ____ is a known complication following surgical repair of EA, resulting from increased reflux

Answer 12

Tracheoesophageal fistula and esophageal atresias

• Path: Occurs when there is improper separation of the esophagus from the trachea; interruption of the developmental process during the 4th week of gestation.
• A clue for esophageal abnormalities prenatally is ~50% of these mothers have polyhydramnios
• Most common abnormalities:
  
  • Nearly 90% of tracheoesophageal abnormalities present as a blind, upper EA with a fistula between a lower esophageal segment and lower portion of the trachea, near the carina
• Associations:
  
  • Nearly ⅓ of infants have other congenital anomalies. Most common association is VACTERL
• Barrett esophagus is a known complication following surgical repair of EA, resulting from increased reflux

Question 13

EA with Distal TEF (Type C)

• Most common form of esophageal abnormality
• Dx: Place NG tube into stomach. Blind pouch of esophagus prevents its passage
• Management:
  
  • Discontinue all oral feeds, place OG catheter
  • After cardiac evaluation rules out potential cardiac abnormalities, perform surgery as soon as possible. Optimal tx is to perform anastomosis of distal esophagus and ligation of the fistula.
    
    • If the 2 ends of the esophagus are far apart, the surgeon will place a gastrostomy tube, then wait to perform anastomosis
    • In very ill or small infant, you can delay anastomosis by doing gastrostomy
  • Main complication of surgery is ____ of material through anastomosis area
    
    • Another complication is ____ formation.

Answer 13

EA with Distal TEF (Type C)

• Most common form of esophageal abnormality
• Dx: Place NG tube into stomach. Blind pouch of esophagus prevents its passage
• Management:
  
  • Discontinue all oral feeds, place OG catheter
  • After cardiac evaluation rules out potential cardiac abnormalities, perform surgery as soon as possible. Optimal tx is to perform anastomosis of distal esophagus and ligation of the fistula.
    
    • If the 2 ends of the esophagus are far apart, the surgeon will place a gastrostomy tube, then wait to perform anastomosis
    • In very ill or small infant, you can delay anastomosis by doing gastrostomy
  • Main complication of surgery is leakage of material through anastomosis area
    
    • Another complication is stricture formation.

Question 14

Isolated EA without TEF (Type A)
- Although EA is more commonly seen with TEF, EA can occur in isolation.

• Pt: Excessive oral secretions with choking. Dilated esophageal pouch and a _____ on XR (not seen in those with TEF)
• Tx: Surgically create an anastomosis between the 2 esophageal ends.
  • If gap ____cm, esophageal lengthening by bougienage or magnets
  • If gap ___cm, esophageal replacement is necessary. This is delayed until 1 year of age.
  • In EA without fistula, ______ may be used to improve the likelihood of completing a primary repair of the esophagus.

Answer 14

Isolated EA without TEF (Type A)
- Although EA is more commonly seen with TEF, EA can occur in isolation.

• Pt: Excessive oral secretions with choking. Dilated esophageal pouch and a flat, gasless abd on XR (not seen in those with TEF)
• Tx: Surgically create an anastomosis between the 2 esophageal ends.
  • If gap <3-4 cm, esophageal lengthening by bougienage or magnets
  • If gap >4cm, esophageal replacement is necessary. This is delayed until 1 year of age.
  • In EA without fistula, waiting before repair may be used to improve the likelihood of completing a primary repair of the esophagus.

Question 15

TEF (H-type)

• Pt: Choking during feeds in early infancy.
• Not associated with ______ bc esophagus is normal and without GI obstruction.
• Dx: Diagnosed using _______. Diagnosis can be tricky; barium swallow frequently misses H-type.
  
  • H-type TEF may escape detection for prolonged periods because it is the only type of TEF that is unassociated with esophageal atresia
• Tx: _____

Answer 15

TEF (H-type)

• Pt: Choking during feeds in early infancy.
• Not associated with polyhydramnios bc esophagus is normal and without GI obstruction.
• Dx: Diagnosed using bronchoscopy and/or esophagoscopy. Diagnosis can be tricky; barium swallow frequently misses H-type.
  
  • H-type TEF may escape detection for prolonged periods because it is the only type of TEF that is unassociated with esophageal atresia
• Tx: Surgery to tie off fistula

Question 16

Achalasia

• Disorder of esophagus characterized by incomplete relaxation of the LES and a lack of normal esophageal peristalsis. Is a ___ problem (not anatomic problem)
• Path: Due to loss of _____ cells in the esophagus and to dorsal motor nuclei reduction of vagus nerve signals. Many have antibodies to the ____ plexus.
• Dx:
  
  • ____ typically reveals a dilated esophagus that terminates in a beaklike manner due to persistent contraction of the LES
  • ____ examination is needed to confirm diagnosis.
• Tx:
• ___ or ___.
  
  • ______ is a more definitive form of treatment.
  • For pts unable to undergo these procedures, use ____ therapy. If therapy fails, use _____.

Answer 16

Achalasia

• Disorder of esophagus characterized by incomplete relaxation of the LES and a lack of normal esophageal peristalsis. Is a motor problem (not anatomic problem)
• Path: Due to loss of ganglion cells in the esophagus and to dorsal motor nuclei reduction of vagus nerve signals. Many have antibodies to the Auerbach plexus.
• Dx:
  
  • Barium swallow typically reveals a dilated esophagus that terminates in a beaklike manner due to persistent contraction of the LES
  • Manometric examination is needed to confirm diagnosis.
• Tx:
  
  • Graded pneumatic dilation or laparoscopic surgical myotomy with partial fundoplication.
    
    • Surgical myotomy is a more definitive form of treatment.
  • For pts unable to undergo these procedures, use botulinum toxin therapy. If botulinum toxin therapy fails, use calcium channel blockers.

Question 17

GER

• Peaks at ___mo. Resolves spontaneously by ___mo.
• Tx:
  
  • Reassurance and education: Burping, avoid overfeeding, smaller more frequent feeds
  • Try hydrolyzed formula for 2 weeks. 2013 NASPGHAN guidelines on GER recommend a 2-week trial of low-allergy formula due to common occurrence of reflux in children with milk-protein allergy.
  • Do not give medications to infants with uncomplicated GER.

Answer 17

GER

• Peaks at 4-5mo. Resolves spontaneously by 12mo.
• Tx:
  
  • Reassurance and education: Burping, avoid overfeeding, smaller more frequent feeds
  • Try hydrolyzed formula for 2 weeks. 2013 NASPGHAN guidelines on GER recommend a 2-week trial of low-allergy formula due to common occurrence of reflux in children with milk-protein allergy.
  • Do not give medications to infants with uncomplicated GER.

Question 18

Sandifer syndrome

• Occurs in children with ____ who have paroxysmal acrocyanosis associated with brief episodes of limpness, stereotypical positioning, or tonic clonic motions suggestive of a seizure, or apnea.
• Typically resolves with tx of GER.

Answer 18

Sandifer syndrome

• Occurs in children with GER who have paroxysmal acrocyanosis associated with brief episodes of limpness, stereotypical positioning, or tonic clonic motions suggestive of a seizure, or apnea.
• Typically resolves with tx of GER.

Question 19

GERD

• GER with complications:
  
  • Poor growth/failure to thrive
  • Feeding refusal, dysphagia
  • Respiratory symptoms (wheezing, coughing, pneumonia)
  • Discomfort and inconsolable (due to pain)
  • Sleep problems
• Tx for infants
  
  • A 4-8 week trial of acid suppression may be considered.
• Tx for older children
  
  • Dietary measures:
    
    • Small meals while also avoiding carbonated drinks, high-fat foods, acidic foods, caffeine, and nicotine (usually secondhand)
    • Avoid bedtime snacks
    • Tx obesity
  • Positioning: Keep upright for 20-30 minutes following a meal
  • Medications: Antisecretory agent, such as PPI (omeprazole)
    
    • 2009 NASPGHAN guidelines and 2013 AAP review suggest ___ are superior to ____ in healing esophagitis and improving symptoms
  • Surgical therapy is the final option, esp for those with severe respiratory or neurologic dx. Most commonly used procedure is the ___
• Prognosis
  
  • If esophagitis is severe and prolonged for many years without therapy, the esophagus can develop strictures or Barrett esophagus can occur.
  • The incidence of Barrett esophagus in the pediatric population is incredibly rare

Answer 19

GERD

• GER with complications:
  
  • Poor growth/failure to thrive
  • Feeding refusal, dysphagia
  • Respiratory symptoms (wheezing, coughing, pneumonia)
  • Discomfort and inconsolable (due to pain)
  • Sleep problems
• Tx for infants
  
  • A 4-8 week trial of acid suppression may be considered.
• Tx for older children
  
  • Dietary measures:
    
    • Small meals while also avoiding carbonated drinks, high-fat foods, acidic foods, caffeine, and nicotine (usually secondhand)
    • Avoid bedtime snacks
    • Tx obesity
  • Positioning: Keep upright for 20-30 minutes following a meal
  • Medications: Antisecretory agent, such as PPI (omeprazole)
    
    • 2009 NASPGHAN guidelines and 2013 AAP review suggest PPIs are superior to H2 receptor blockers in healing esophagitis and improving symptoms
  • Surgical therapy is the final option, esp for those with severe respiratory or neurologic dx. Most commonly used procedure is the Nissen fundoplication.
• Prognosis
  
  • If esophagitis is severe and prolonged for many years without therapy, the esophagus can develop strictures or Barrett esophagus can occur.
  • The incidence of Barrett esophagus in the pediatric population is incredibly rare

Question 20

Rumination syndrome
- Associated with ______ deprivation

• Pt:
  
  • Effortless (semipurposeful), voluntary habitual regurgitation within minute-hours of eating,
  • Regurgitation of food into the mouth followed by re-chewing and re-swallowing or expulsion.
  • Consider rumination for an adolescent pt who leaves the table multiple times during dinner to “throw up” mouthfuls of food in the bathroom. Many pts have comorbid anxiety or depression.
• Dx: Clinical (History, exam, observation of feeding and rumination episodes)
  
  • Must include all of the following for >2 months:
    
    • 1. Repeated regurgitation and rechewing or expulsion of food that
    • 2. Not preceded by retching
    • 3. After appropriate evaluation, symptoms cannot be fully explained by another medical condition. Eat disorder must be ruled out.
  • Rome criteria
    
    • Repetitive contractions of the abdominal muscles, diaphragm, and tongue followed by regurgitation of stomach contents, which are then expectorated or chewed and re-swallowed
    • 3 of the following criteria are required
      
      • Onset between 3-8 mo of age
      • Does not respond to management for GERD, anticholinergics, formula changes, gavage, or gastrostomy tube feedings
      • Unaccompanied by signs of nausea or distress
      • History will reveal that these episodes do not occur during sleep or when infant is actively involved in engaging activities/ interacting w individuals
• Management: _______

Answer 20

Rumination syndrome
- Associated with severe sensory and emotional deprivation

• Pt:
  
  • Effortless (semipurposeful), voluntary habitual regurgitation within minute-hours of eating,
  • Regurgitation of food into the mouth followed by re-chewing and re-swallowing or expulsion.
  • Consider rumination for an adolescent pt who leaves the table multiple times during dinner to “throw up” mouthfuls of food in the bathroom. Many pts have comorbid anxiety or depression.
• Dx: Clinical (History, exam, observation of feeding and rumination episodes)
  
  • Must include all of the following for >2 months:
    
    • 1. Repeated regurgitation and rechewing or expulsion of food that
    • 2. Not preceded by retching
    • 3. After appropriate evaluation, symptoms cannot be fully explained by another medical condition. Eat disorder must be ruled out.
  • Rome criteria
    
    • Repetitive contractions of the abdominal muscles, diaphragm, and tongue followed by regurgitation of stomach contents, which are then expectorated or chewed and re-swallowed
    • 3 of the following criteria are required
      
      • Onset between 3-8 mo of age
      • Does not respond to management for GERD, anticholinergics, formula changes, gavage, or gastrostomy tube feedings
      • Unaccompanied by signs of nausea or distress
      • History will reveal that these episodes do not occur during sleep or when infant is actively involved in engaging activities/ interacting w individuals
• Management:
  
  • Supportive, relying on psychotherapy and cognitive behavioral therapy.
  • Behavioral modifications
  • Increasing overall levels of environmental stimulation. Engage child in activities during feeding.

Question 21

Eosinophilic Esophagitis (EoE)

• Suspect this disorder in any child with a hx of food bolus becoming stuck or who describes frequent odynophagia (pain with swallowing) or dysphagia.
• Many pts also have some other form of atopy (eg asthma, food allergies, eczema, chronic rhinitis)
• Dx:
  
  • Gold standard is ____
    
    • Histology findings: >____ per high power field indicates EOE
• Management:
  
  • Most experts recommend high-dose acid suppression with a ____ (NOT ____), specific food elimination, or _______
  • As many as 60% of children with EOE improve symptomatically with the elimination of dietary ____. Some patients require a more complex “six-food elimination diet”

Answer 21

Eosinophilic Esophagitis (EoE)

• Suspect this disorder in any child with a hx of food bolus becoming stuck or who describes frequent odynophagia (pain with swallowing) or dysphagia.
• Many pts also have some other form of atopy (eg asthma, food allergies, eczema, chronic rhinitis)
• Dx:
  
  • Gold standard is upper endoscopy
    
    • Histology findings: >15 eosinophils per high power field indicates EOE
• Management:
  
  • Most experts recommend high-dose acid suppression with a PPI (NOT H2 blockers), specific food elimination, or swallowed steroids (fluticasone or budesonide swallowed via MDI)
  • As many as 60% of children with EOE improve symptomatically with the elimination of dietary cow’s milk. Some patients require a more complex “six-food elimination diet”

Question 22

Pill-Induced Esophagitis

• Tetracycline, doxycycline, aspirin, NSAIDs, and slow-release potassium are the pills most often implicated
• The most common location for the pill to become stuck is midesophagus
• Look for adolescent who comes in with chest pain and a hx of doxycycline for acne.
• Management:
  
  • Symptoms generally resolve in 1-3 weeks.
  • No specific therapy is necessary other than advising the pt to swallow pills with water so the pill clears the esophagus rapidly.

Answer 22

Pill-Induced Esophagitis

• Tetracycline, doxycycline, aspirin, NSAIDs, and slow-release potassium are the pills most often implicated
• The most common location for the pill to become stuck is midesophagus
• Look for adolescent who comes in with chest pain and a hx of doxycycline for acne.
• Management:
  
  • Symptoms generally resolve in 1-3 weeks.
  • No specific therapy is necessary other than advising the pt to swallow pills with water so the pill clears the esophagus rapidly.

Question 23

Infections of the esophagus

- Most common organisms to cause infection in esophagus: Candida, CMV, HSV

Answer 23

Infections of the esophagus

- Most common organisms to cause infection in esophagus: Candida, CMV, HSV

Question 24

Ingestion of foreign bodies
- X-ray 2 view PA and lateral, look for coin sign in AP view (negative coin sign, en face, which means it is in the ____) or lateral (positive coin sign, en face in sagittal plan/lateral film or on-end/linear on AP, which means it is in the ____)

• Removal with rigid bronchoscopy or rigid endoscopy
  
  • Emergent removal (less than __ hours from presentation):
    
    • ____
    • _____
    • ___ should be removed
  • Urgent removal (less than ___hours from presentation):
    
    • _____ in stomach of small bowel in asymptomatic children less than ___yo AND battery width >____mm.
    • All ____ require removal within 24 hours.
    • Sharp or long objects (>___mm long) if in the esophagus or stomach.

In children with a hx of button battery ingestion, ongoing progression of esophageal injury, even after the operative removal of the battery, has been reported. Progression of esophageal injury has been reported days-weeks after removal of esophageal button batteries, resulting in serious sequelae, including esophageal perforation and aortoesophageal fistula formation.

Answer 24

Ingestion of foreign bodies
- X-ray 2 view PA and lateral, look for coin sign in AP view (negative coin sign, en face, which means it is in the esophagus) or lateral (positive coin sign, en face in sagittal plan/lateral film or on-end/linear on AP, which means it is in the trachea/airway)

• Removal with rigid bronchoscopy or rigid endoscopy
  
  • Emergent removal (<2 hours from presentation):
    
    • Button batteries in esophagus as they can cause immediate liquefactive necrosis (due to sodium hydroxide generated by current) within 2 hours of swallowing. An internal ring / 2 concentric circles signs a button battery.
    • Symptomatic patients with button batteries
    • Magnets should be removed
  • Urgent removal (<24 hours from presentation):
    
    • Button batteries in stomach of small bowel in asymptomatic children <5yo AND battery width >20mm.
    • All esophageal ingestions require removal within 24 hours.
    • Sharp or long objects (>50mm long) if in the esophagus or stomach.

In children with a hx of button battery ingestion, ongoing progression of esophageal injury, even after the operative removal of the battery, has been reported. Progression of esophageal injury has been reported days-weeks after removal of esophageal button batteries, resulting in serious sequelae, including esophageal perforation and aortoesophageal fistula formation.

Question 25

Esophageal perforation - Spontaneous perforation can occur in pts with ___ and ___ syndromes. - Do NOT perform ___ in these pts!

Answer 25

Esophageal perforation - Spontaneous perforation can occur in pts with Ehlers-Danlos and Marfan syndromes. - Do NOT perform endoscopy in these pts!

Question 26

Malrotation - Malration is due to nonrotation, incomplete rotation, paraduodenal hernia, or reverse rotation - _____ is the most common malrotation abnormality - Cecum on the L and small intestine to the R of the small mesenteric artery. Results in a short mesentery and little fixation of the bowel. The duodenum is small and fuses with the colon, using a common mesentery around the SMA. - Pt: Infants classically present with acute development of _____ in the 1st month of life (90% present within the 1st year) - Dx: - Gold standard is_____ bc fluoroscopic study can evaluation positioning of duodenum - Upper GI can demonstrate classic _______ of the 2nd or 3rd portion of the duodenum, where the gut is twisted. Demonstrates intestinal malrotation (3rd portion of duodenum does not cross midline/vertebral bodies) and volvulus (“corkscrew” of small intestine if duodenum is partially obstructed) - Upper GI can identify abnormal positioning of the duodenojejunal junction (normally located at the level of ligament of Treitz). In malrotation, the ligament of Treitz is on the _____ side of the spine and is inferior to the duodenal bulb. Contrast from the upper GI series fill the jejunal loops on the ____ side of the abdomen. - X-ray will show ____ + _____ pattern beyond - Tx: Surgical emergency, resuscitation and emergent laparotomy with operative correction of the volvulus and malrotation (Ladd procedure).

Answer 26

Malrotation - Malration is due to nonrotation, incomplete rotation, paraduodenal hernia, or reverse rotation - Nonrotation is the most common malrotation abnormality - Cecum on the L and small intestine to the R of the small mesenteric artery. Results in a short mesentery and little fixation of the bowel. The duodenum is small and fuses with the colon, using a common mesentery around the SMA. - Pt: Infants classically present with acute development of bilious emesis in the 1st month of life (90% present within the 1st year) - Dx: - Gold standard is upper GI series bc fluoroscopic study can evaluation positioning of duodenum - Upper GI can demonstrate classic “bird’s beak” of the 2nd or 3rd portion of the duodenum, where the gut is twisted. Demonstrates intestinal malrotation (3rd portion of duodenum does not cross midline/vertebral bodies) and volvulus (“corkscrew” of small intestine if duodenum is partially obstructed) - Upper GI can identify abnormal positioning of the duodenojejunal junction (normally located at the level of ligament of Treitz). Normally, ligament of Treitz is to the L of the spine at the level of gastric antrum and is fixed to the posterior body wall. In malrotation, the ligament of Treitz is on the R side of the spine and is inferior to the duodenal bulb. Contrast from the upper GI series fill the jejunal loops on the RIGHT side of the abdomen. - X-ray will show double bubble + normal gas pattern beyond - Tx: Surgical emergency, resuscitation and emergent laparotomy with operative correction of the volvulus and malrotation (Ladd procedure).

Question 27

Duodenal atresia - Associated with multiple anomalies - 40% of duodenal atresia have ___. - Pt: Generally presents within first 24-48 hours (on the 1st day of life) after birth, with persistent emesis and/or bilious emesis - Dx: - Abdominal radiograph with “_____” resulted from the dilated stomach and proximal duodenal bulb. This is diagnostic if the rest of the bowel is ___. If there is distal gas, confirm with an ___. - Tx: Bowel decompression and surgical repair

Answer 27

Duodenal atresia - Associated with multiple anomalies - 40% of duodenal atresia have Trisomy 21. Is more common in children with trisomy 21/down syndrome. - Pt: Generally presents within first 24-48 hours (on the 1st day of life) after birth, with persistent emesis and/or bilious emesis - Dx: - Abdominal radiograph with “double bubble,” resulted from the dilated stomach and proximal duodenal bulb. This is diagnostic if the rest of the bowel is airless. If there is distal gas, confirm with an upper GI study. - x-ray shows double bubble + no gas pattern beyond - Tx: Bowel decompression and surgical repair

Question 28

Jejunoileal atresia - Path: Impaired intrauterine vascular supply, which leads to localized ischemia. In theory, in utero exposure to nicotine from cigarette smoking causes vasoconstriction - Different from duodenal atresia in that jejunoileal atresia is NOT associated with other congenital anomalies. - Abd XRs show multiple, dilated loops of bowel with air-fluid levels. - x ray shows ____ + _____ - Dx: Best made with an ____ - Tx: Surgery

Answer 28

Jejunoileal atresia - Path: Impaired intrauterine vascular supply, which leads to localized ischemia. In theory, in utero exposure to nicotine from cigarette smoking causes vasoconstriction - Different from duodenal atresia in that jejunoileal atresia is NOT associated with other congenital anomalies. - Abd XRs show multiple, dilated loops of bowel with air-fluid levels. - x ray shows double bubble + multiple air fluid levels - Dx: Best made with an upper GI or lower GI study. - Tx: Surgery

Question 29

Hypertrophic pyloric stenosis - RF - Early (<2 weeks of age) exposure to _____ is also a frequently tested RF for pyloric stenosis. - Pt: - Progressive nonbilious nonbloody vomiting. Usually presents between 3 weeks and 2 months - Labs: ___kalemia, __chloremic metabolic ___ - Dx: - Physical exam by observing visible peristalsis and palpating for a mobile pyloric mass “olive,” which is pathognomonic for pyloric stenosis. - Abdominal US with pyloric muscle thickness (PMT), pyloric muscle length (PML), and pyloric diameter (PD) measured to confirm diagnosis. - On US, if the pyloric channel is thicker than __mm and longer than __mm, pyloric stenosis is highly likely. - If US inconclusive, Upper GI shows elongation and thickening of the pylorus - Management: - Initial assessment of hydration status, evaluate for electrolyte abnormalities (particularly hypokalemia and alkalosis) - Semi-normalization of chloride may be the most important and most relevant metabolic change indicating metabolic alkalosis has resolved, suggesting surgical optimization. - Cl level should be normal-high normal prior to surgery; some data suggest a level of 106mmol/L is the goal. - Surgical procedure of choice is _______

Answer 29

Hypertrophic pyloric stenosis - RF - Early (<2 weeks of age) exposure to erythromycin is also a frequently tested RF for pyloric stenosis. - Pt: - Progressive nonbilious nonbloody vomiting. Usually presents between 3 weeks and 2 months - Labs: Hypokalemic, hypochloremic metabolic alkalosis - Dx: - Physical exam by observing visible peristalsis and palpating for a mobile pyloric mass “olive,” which is pathognomonic for pyloric stenosis. - Abdominal US with pyloric muscle thickness (PMT), pyloric muscle length (PML), and pyloric diameter (PD) measured to confirm diagnosis. - On US, if the pyloric channel is thicker than 3mm and longer than 14mm, pyloric stenosis is highly likely (3.14 pi). - If US inconclusive, Upper GI shows elongation and thickening of the pylorus - Management: - Initial assessment of hydration status, evaluate for electrolyte abnormalities (particularly hypokalemia and alkalosis) - Semi-normalization of chloride may be the most important and most relevant metabolic change indicating metabolic alkalosis has resolved, suggesting surgical optimization. - Cl level should be normal-high normal prior to surgery; some data suggest a level of 106mmol/L is the goal. - Surgical procedure of choice is pyloromyotomy

Question 30

Stress Gastropathy - Path: Due to severe physiologic stress, such as occurs with shock, metabolic acidosis, sepsis, burns, and head injury - Curling ulcer - gastritis in a ___ pt - Cushing ulcer - pt with ___

Answer 30

Stress Gastropathy - Path: Due to severe physiologic stress, such as occurs with shock, metabolic acidosis, sepsis, burns, and head injury - Curling ulcer - gastritis in a burn pt - Cushing ulcer - pt with head injury or brain surgery

Question 31

H pylori Gastritis - Path: H pyloris is the most common identifiable cause of chronic gastritis in children. - Pt: - 80% of infected children are ____. - Associations - H pylori is the primary cause of ___. - H. pylori is the cause of ___ - Noninvasive testing can be utilized for non-acute situations and for posttreatment testing - Includes urea breath testing, serological testing, and stool antigen assay. - Dx: - When pathology is determined with ____ visualization (can be normal, often results in gastric mucosa appearing nodular) and ______ (show gram-neg spiral rods on surface of glandular epithelium under the mucous layer when using special stains), a _______ (13C or 14C) or a rapid urea test (RUT) on the tissue is done to confirm the cause is H. pylori. - 1st diagnose pathology and only then look for H. pylori. Do not test for H. pylori initially as an aid for diagnosis of abdominal pain bc presence of H pylori alone is not helpful as a diagnostic indicator. - Serum antibody tests confirm ________, so do not use for diagnosis of active H pylori infection. - Stool antigen test can be helpful to determine if _____, but guidelines discourage its use for initial diagnosis. - Gold standard: _____ - Alternate: Endoscopy with positive histology findings and +rapid urease test/PCR/FISH - Posttreatment: Urea breath testing, stool Ag testing - Tx: - ESPGHAN recommends eradication treatment for all children with H pylori-associated gastric and/or duodenal ulcer disease. The presence of ulceration is a key factor considered in the management - “Triple therapy,” which includes a ___, ___, and ____ for 7-14 days.

Answer 31

H pylori Gastritis - Path: H pyloris is the most common identifiable cause of chronic gastritis in children. - Pt: - 80% of infected children are asymptomatic. - Associations - H pylori is the primary cause of gastric adenocarcinoma. - H. pylori is the cause of gastric lymphoma called mucosa-associated lymphoid tissue (MALT) - Noninvasive testing can be utilized for non-acute situations and for posttreatment testing - Includes urea breath testing, serological testing, and stool antigen assay. - Dx: - When pathology is determined with endoscopic visualization (can be normal, often results in gastric mucosa appearing nodular) and biopsy (show gram-neg spiral rods on surface of glandular epithelium under the mucous layer when using special stains), a urea breath test (13C or 14C) or a rapid urea test (RUT) on the tissue is done to confirm the cause is H. pylori. - 1st diagnose pathology and only then look for H. pylori. Do not test for H. pylori initially as an aid for diagnosis of abdominal pain bc presence of H pylori alone is not helpful as a diagnostic indicator. - Serum antibody tests confirm only past exposure, not active, ongoing infection, so do not use for diagnosis of active H pylori infection. - Stool antigen test can be helpful to determine if known infection is eradicated, but guidelines discourage its use for initial diagnosis. - Gold standard: Endoscopy with positive culture - Alternate: Endoscopy with positive histology findings and +rapid urease test/PCR/FISH - Posttreatment: Urea breath testing, stool Ag testing - Tx: - ESPGHAN recommends eradication treatment for all children with H pylori-associated gastric and/or duodenal ulcer disease. The presence of ulceration is a key factor considered in the management - “Triple therapy,” which includes a PPI, amoxicillin, and clarithromycin for 7-14 days.

Question 32

Peptic Ulcer Disease - Path: - Majority caused by H pylori (esp duodenal ulcers) and then NSAIDs (esp gastric ulcers). - Zollinger-Ellison syndrome - Rare in children. Produces markedly excessive stomach acid due to______), typically located in the pancreas or duodenal wall. - Gastrinomas associated with ___. (so evaluate for hyperparathyroidism and adrenal tumors) - Dx: - If suspect PUD, perform an ____. Remember, endoscopy is the best test for children with upper GI bleeding, recurrent vomiting, or persistent, unexplained abdominal pain. - Just as with chronic gastritis, when the pathology is determined when endoscopic visualization and biopsy, a urea breath test or a RUT on the tissue is done to confirm the cause is H pylori. - Tx: - 2 weeks of a _ plus _, plus _ or _. - In areas where clarithromycin resistance is high, quadruple therapy is used: ___, __, ___, and either ___ or __ - In the presence of a positive H pylori test, give anti-H pylori therapy only when PUD is proven or in MALT lymphoma. In children, do not tx H pylori colonization indiscriminately. - Surgery is rarely indicated except for following circumstances: perforation of stomach or duodenum, active bleeding that cannot be controlled, gastric outlet or duodenal obstruction, or failed medical therapy. - Follow-up - For uncomplicated ulcers, confirm H pylori eradication with symptom resolution and a follow-up ____ after acid suppression has ended. Do not recommend dietary modification. - Ulcers with complications (bleeding, perforation, or penetration) commonly relapse, so confirm healing and eradication of H pylori with a follow-up ____.

Answer 32

Peptic Ulcer Disease - Path: - Majority caused by H pylori (esp duodenal ulcers) and then NSAIDs (esp gastric ulcers). - Zollinger-Ellison syndrome - Rare in children. Produces markedly excessive stomach acid due to gastrin-secreting tumor (gastrinoma), typically located in the pancreas or duodenal wall. - Gastrinomas associated with MEN1. 25% of people with gastrinoma have MEN1 (so evaluate for hyperparathyroidism and adrenal tumors) - Dx: - If suspect PUD, perform an upper endoscopy. Remember, endoscopy is the best test for children with upper GI bleeding, recurrent vomiting, or persistent, unexplained abdominal pain. - Just as with chronic gastritis, when the pathology is determined when endoscopic visualization and biopsy, a urea breath test or a RUT on the tissue is done to confirm the cause is H pylori. - Tx: - 2 weeks of a PPI plus clarithromycin, plus amoxicillin or metronidazole. - In areas where clarithromycin resistance is high, quadruple therapy is used: bismuth salicylates, PPIs, tetracycline, and either amoxicillin or metronidazole - In the presence of a positive H pylori test, give anti-H pylori therapy only when PUD is proven or in MALT lymphoma. In children, do not tx H pylori colonization indiscriminately. - Surgery is rarely indicated except for following circumstances: perforation of stomach or duodenum, active bleeding that cannot be controlled, gastric outlet or duodenal obstruction, or failed medical therapy. - Follow-up - For uncomplicated ulcers, confirm H pylori eradication with symptom resolution and a follow-up urea breath test or stool antigen test at least 4-6 weeks after acid suppression has ended. Do not recommend dietary modification. - Ulcers with complications (bleeding, perforation, or penetration) commonly relapse, so confirm healing and eradication of H pylori with a follow-up endoscopy.

Question 33

Anal fissures - Most common cause of rectal bleeding in children of all ages - Suspect Crohn dx in older child if anal fissure does not heal with stool softeners, warm sitz baths, and generous lubrication in anal skin - Suspect sexual abuse if multiple anal fissuures of signs of genital trauma

Answer 33

Anal fissures - Most common cause of rectal bleeding in children of all ages - Suspect Crohn dx in older child if anal fissure does not heal with stool softeners, warm sitz baths, and generous lubrication in anal skin - Suspect sexual abuse if multiple anal fissuures of signs of genital trauma

Question 34

Hemorrhoids - the most common cause of symptomatic hemorrhoids is ______ with chronic straining - Differential: Sometimes mistaken for _____. Can distinguish by noting hemorrhoids do not involve entire rectal mucosa and do not have a hole in the center of bulging tissue - Manage: Conservative with avoidance of straining w defecation, minimizing toilet time, increasing fluids and fiber to relieve constipation, or prescribing stool softener. Warm water sitz baths alleviate symptoms. - Preparation H for >12yo

Answer 34

Hemorrhoids - the most common cause of symptomatic hemorrhoids is constipation with chronic straining - Differential: Sometimes mistaken for rectal prolapse. Can distinguish by noting hemorrhoids do not involve entire rectal mucosa and do not have a hole in the center of bulging tissue - Manage: Conservative with avoidance of straining w defecation, minimizing toilet time, increasing fluids and fiber to relieve constipation, or prescribing stool softener. Warm water sitz baths alleviate symptoms. - Preparation H for >12yo

Question 35

Intussusception - Typically affecting children between 2mo and 5yo, with peak incidence between 4-10mo. - Path: - Most originate near the ___ junction, and many believe these are due to a virus-induced swelling of ___. - In older children, intussusception is less common, and the cause is often more apparent by an intraluminal lesion as a ____ the most common cause is a ____ - Pt: - Colicky abdominal pain, often with vomiting (esp bilious vomiting). Awakens with crying and has flexion of knees and hips. - Severe abdominal pain interspersed with asymptomatic intervals - Gross blood per rectum with mucus (“currant jelly” stools) - Abd exam may be significant for distension and palpable “_______” mass in RUQ - Triad of _____, ____, and _____ is seen in about 20% of children - Dx: Abd US is study of choice, with positive study revealing a “_____” - Tx: - ______, which is both diagnostic and therapeutic procedure of choice - ______ is an absolute contraindication. Bowel obstruction is a relative contraindication. - In children with peritoneal signs, and those for whom attempts to reduce the intussusception by air contrast enema have failed, urgent operative management with ______ is indicated.

Answer 35

Intussusception - Typically affecting children between 2mo and 5yo, with peak incidence between 4-10mo. - Path: - Most originate near the ileocecal junction, and many believe these are due to a virus-induced swelling of Peyer patches. - In older children, intussusception is less common, and the cause is often more apparent by an intraluminal lesion as a “leading edge”; the most common cause is a Meckel diverticulum. - Pt: - Colicky abdominal pain, often with vomiting (esp bilious vomiting). Awakens with crying and has flexion of knees and hips. - Severe abdominal pain interspersed with asymptomatic intervals - Gross blood per rectum with mucus (“currant jelly” stools) - Abd exam may be significant for distension and palpable “sausage-shaped” mass in RUQ - Triad of bilious emesis, abdominal mass, and blood per rectum is seen in about 20% of children - Dx: Abd US is study of choice, with positive study revealing a “target sign” - Tx: - Air-contrast enema, which is both diagnostic and therapeutic procedure of choice - Peritonitis is an absolute contraindication. Bowel obstruction is a relative contraindication. - In children with peritoneal signs, and those for whom attempts to reduce the intussusception by air contrast enema have failed, urgent operative management with laparotomy is indicated.

Question 36

Meckel’s Diverticulum - Path: Remnant of the fetal _______ with failure of closure. - Ectopic _____ mucosa in the diverticulum - Rule of 2’s - Present in 2 - Located within 2 - Measures 2 - Measures 2 - 2:1 _ ratio - Usually symptomatic before 2 yo (if and when symptoms are present) - 1 in 2 positive on_ - Pt: - Many children are asymptomatic. - Painless rectal bleeding (due to gastric mucosa) - Associated with other congenital anomalies, , including esophageal atresia (6x risk), imperforate anus (5x risk), neurologic anomalies (3x risk), and cardiovascular anomalies (2x risk). - Dx: - Diagnosis is difficult. - Most sensitive test is Meckel radionuclide scan with ____, which is specifically targeted at the ectopic _____ mucosal cells found in a Meckel diverticulum. - Tx: - Surgical excision - segmental ileal resection to include the diverticulum and the ulcer.

Answer 36

Meckel’s Diverticulum - Path: Remnant of the fetal omphalomesenteric duct/vitelline duct with failure of closure. - Ectopic gastric mucosa in the diverticulum - Rule of 2’s - Present in 2% of the population (usually asymptomatic) - Located within 2 feet of the ileocecal valve - Measures 2 inches in length - Measures 2 cm in diameter - 2:1 male-to-female ratio - Usually symptomatic before 2 yo (if and when symptoms are present) - 1 in 2 positive on meckel scan - Pt: - Many children are asymptomatic. - Painless rectal bleeding (due to gastric mucosa) - Associated with other congenital anomalies, , including esophageal atresia (6x risk), imperforate anus (5x risk), neurologic anomalies (3x risk), and cardiovascular anomalies (2x risk). - Dx: - Diagnosis is difficult. - Most sensitive test is Meckel radionuclide scan with technetium-99m pertechnetate, which is specifically targeted at the ectopic gastric mucosal cells found in a Meckel diverticulum. - Tx: - Surgical excision - segmental ileal resection to include the diverticulum and the ulcer.

Question 37

Celiac Disease - HLA typing shows only 2 HLA types are associated with celiac disease, ___ and __. - Pt: - Classic GI form of the disease presents in the child <2yo, with symptoms that include malabsorptive diarrhea, poor weight gain, abdominal distention, and proximal muscle wasting. - Triad of ___, ____, and ___ - May present with recurrent _____ in children with type 1 diabetes - ______ is an itchy, vesicular rash that erupts symmetrically on the extensor surfaces of the arms and legs and on the buttocks. The lesion is pathognomonic for celiac disease. - Associations - Celiac disease is so common in children with ____ and ____ deficiency that many physicians recommend universal screening for both disease in these patients. - In addition, there is a 5-16 fold increased risk of celiac disease in children with _____. - Labs: Iron and folate-deficiency anemia, elevated liver transaminases and fat-soluble vitamin deficiencies - Unexplained _____ prompts you to look for celiac disease. - Presence of ____ in the stool in the absence of pancreatic insufficiency (normal pancreatic elastase) and inflammation (no evidence of blood or WBCs in the stool). - Screening - In all individuals, except those with IgA deficiency, both ____ and ____ levels should be obtained. Individuals who are IgA deficient should be evaluated with tTG-IgG, endomysial antibody-IgG, or deamidated gliadin peptide antibody-IgG. - Gold standard for diagnosis: ______ - Important: Do NOT place the pt on a gluten-free diet prior to endoscopy bc this can cause a false negative result. - Histopathologic findings of celiac disease include villous atrophy with intraepithelial lymphocytes. - 2 mandatory requirements for diagnosis: - 1) ____ - 2) _____ - Management: - Gluten-free diet (wheat, barley, rye) with nutritional education - Evaluation for celiac disease should be performed for _____ and in individuals with autoimmune thyroid disease, autoimmune liver disease, trisomy 21, type 1 DM, Williams syndrome, Turner syndrome, and IgA deficiency.

Answer 37

Celiac Disease - HLA typing shows only 2 HLA types are associated with celiac disease, DQ2 and DQ8. - Pt: - Classic GI form of the disease presents in the child <2yo, with symptoms that include malabsorptive diarrhea, poor weight gain, abdominal distention, and proximal muscle wasting. - Triad of failure to thrive, bloating, and diarrhea - May present with recurrent hypoglycemia in children with type 1 diabetes - Dermatitis herpetiformis is an itchy, vesicular rash that erupts symmetrically on the extensor surfaces of the arms and legs and on the buttocks. The lesion is pathognomonic for celiac disease. - Associations - Celiac disease is so common in children with Type 1 DM and selective IgA deficiency that many physicians recommend universal screening for both disease in these patients. - In addition, there is a 5-16 fold increased risk of celiac disease in children with Down syndrome. - Labs: Iron and folate-deficiency anemia, elevated liver transaminases and fat-soluble vitamin deficiencies - Iron deficiency anemia is common at diagnosis, and unexplained iron deficiency prompts you to look for celiac disease. - Presence of excessive fat in the stool in the absence of pancreatic insufficiency (normal pancreatic elastase) and inflammation (no evidence of blood or WBCs in the stool). - Screening - In all individuals, except those with IgA deficiency, both tTG-IgA and total IgA levels should be obtained. Individuals who are IgA deficient should be evaluated with tTG-IgG, endomysial antibody-IgG, or deamidated gliadin peptide antibody-IgG. - Tissue transglutaminase (TTG) immunoglobulin IgA is the best screening test - Gold standard for diagnosis: Duodenal biopsy with endoscopy. - Important: Do NOT place the pt on a gluten-free diet prior to endoscopy bc this can cause a false negative result. - Histopathologic findings of celiac disease include villous atrophy with intraepithelial lymphocytes. - 2 mandatory requirements for diagnosis: - 1) Characteristic histology on small intestine biopsy - 2) Complete clinical remission with a gluten-free diet - Management: - Gluten-free diet (wheat, barley, rye) with nutritional education - Evaluation for celiac disease should be performed for 1st degree relatives of individuals with celiac disease and in individuals with autoimmune thyroid disease, autoimmune liver disease, trisomy 21, type 1 DM, Williams syndrome, Turner syndrome, and IgA deficiency.

Question 38

Dermatitis Herpetiformis - Pt: Pruritic, pink papules and vesicles on extensor surfaces (elbows, knees, buttocks, and lower back) - Tx: _____, which helps to promptly alleviate the eruption. Although a gluten-free diet often mitigates the need for dapsone, it can take months to help.

Answer 38

Dermatitis Herpetiformis - Pt: Pruritic, pink papules and vesicles on extensor surfaces (elbows, knees, buttocks, and lower back) - Tx: Dapsone, which helps to promptly alleviate the eruption. Although a gluten-free diet often mitigates the need for dapsone, it can take months to help.

Question 39

Appendicitis - Most common surgical emergency in children. - Pt: At the time of appendiceal perforation, there may be a rapid clinical improvement because of a sudden decrease in intraluminal pressure in the appendix - PE: - Guarding - Psoas sign (pain on extension of R thigh) - Rovsing sign (pain in RLQ when press on LLQ) - Obturator sign (pain elicited with flexion and internal rotation of hip) - Markle sign (pain when jump) - Dx: - Best initially evaluated by ultrasonography. - CT of abdomen/pelvis shows enhancement and dilation of the appendix. Normal appendix width is less than __mm. - Simple/Early appendicitis = appendicitis without evidence of perforation or gangrene - If nonperforated appendicitis, receive single ppx dose of broad abx (cefoxitin, piperacillin and tazobactam, ceftriaxone, metronidazole) before operation. IVF, analgesia. - Delayed lap appendectomy within 24 hrs - Complex/Advanced appendicitis = perforated or gangrenous appendix - Urgent appendectomy, - Give broad spectrum IV antibiotics until the pt is afebrile and clinically improved. - One can consider a “triple” regimen (ampicillin, gentamicin, and clindamycin or metronidazole) or a combination regimen (ceftriaxone-metronidazole, or ticarcillin-clavulanate plus gentamicin).

Answer 39

Appendicitis - Most common surgical emergency in children. - Pt: At the time of appendiceal perforation, there may be a rapid clinical improvement because of a sudden decrease in intraluminal pressure in the appendix - PE: - Guarding - Psoas sign (pain on extension of R thigh) - Rovsing sign (pain in RLQ when press on LLQ) - Obturator sign (pain elicited with flexion and internal rotation of hip) - Markle sign (pain when jump) - Dx: - Best initially evaluated by ultrasonography. - CT of abdomen/pelvis shows enhancement and dilation of the appendix. Normal appendix width is <6mm. - Simple/Early appendicitis = appendicitis without evidence of perforation or gangrene - If nonperforated appendicitis, receive single ppx dose of broad abx (cefoxitin, piperacillin and tazobactam, ceftriaxone, metronidazole) before operation. IVF, analgesia. - Delayed lap appendectomy within 24 hrs - Complex/Advanced appendicitis = perforated or gangrenous appendix - Urgent appendectomy, - Give broad spectrum IV antibiotics until the pt is afebrile and clinically improved. - One can consider a “triple” regimen (ampicillin, gentamicin, and clindamycin or metronidazole) or a combination regimen (ceftriaxone-metronidazole, or ticarcillin-clavulanate plus gentamicin).

Question 40

Neutropenic Enterocolitis (Typhilitis) - Typhlitis is inflammation of the cecum, mainly seen during period of ____ in pts being tx for ___. - Dx: - Most use CT to investigate. - Abd XR sometimes shows _____. - Tx: Bowel rest, IVF, and abx therapy.

Answer 40

Neutropenic Enterocolitis (Typhilitis) - Typhlitis is inflammation of the cecum, mainly seen during period of neutropenia in pts being tx for leukemia. - Dx: - Most use CT to investigate. - Abd XR sometimes shows bowel wall thickening or pneumatosis intestinalis. - Tx: Bowel rest, IVF, and abx therapy.

Question 41

Ulcerative Colitis - ___ mucosa - Limited to the ___ (UC = unanimously colon). Continuous fashion without skip lesions. Does not involve the small intestine - Pt: - Classically with abdominal pain and bloody diarrhea. At onset, many have only nonbloody diarrhea. - Fever and arthralgias/arthritis - Seronegative spondyloarthropathies, ____ (tender, red, oval nodules over extensor surfaces of the legs), and _____can occur - Primary _____ - NO or mild weight loss. NO perianal lesions. RARE aphthous mouth ulcers. RARE growth failure. - Leadpipe appearance. - _____ association - Dx: Colonoscopy and upper endoscopy with biopsies - Granulomas are ___ present. - ______ - Tx: Tx is lifelong - ____: To induce remission and maintain remission - Most pts with mild-moderate UC respond well to ____. - _____: Induce remission in exacerbations (do not use for mainenance of remission bc of can be dangeorus if used for long periods of time) - ___: Induce and maintain remission - ___ is IgG1 monoclonal antibody against tumor necrosis factor (anti-TNF-alpha) - Widely used in moderate-severe disease who are steroid dependent or steroid refractory - Purine analogs: Maintain remission - ___ and ____ - Very slow onset of action (~3 months) - Methotrexate - Not routinely recommended for maintenance of remission for UC. - Reserved for those who are not surgical candidates for cure and who cannot tolerate or have difficulties with azathioprine or 6-MP. - Do not use antidiarrheal agents routinely due to concern for the development of toxic megacolon. - Surgical therapy - Indications for urgent surgery: Uncontrollable massive bleeding, perforation, toxic megacolon, failure of standard therapy - Predisposes to _____ at increasing rate that is correlate with the duration of active disease. - UC should undergo colonoscopy with biopsy every __ years after having the disease for __ years.

Answer 41

Ulcerative Colitis - Superficial mucosa - Limited to the colon (UC = unanimously colon). Continuous fashion without skip lesions. Does not involve the small intestine - Pt: - Classically with abdominal pain and bloody diarrhea. At onset, many have only nonbloody diarrhea. - Fever and arthralgias/arthritis - Seronegative spondyloarthropathies, erythema nodosum (tender, red, oval nodules over extensor surfaces of the legs), and pyoderma gangrenosum can occur - Primary sclerosing cholangitis - NO or mild weight loss. NO perianal lesions. RARE aphthous mouth ulcers. RARE growth failure. - Leadpipe appearance. - P-ANCA association - Dx: Colonoscopy and upper endoscopy with biopsies - Granulomas are not present. - Crypt abscesses - Tx: Tx is lifelong - 5-aminosalicylic acid (5-ASA): To induce remission and maintain remission - Most pts with mild-moderate UC respond well to sulfasalazine. - Corticosteroids: Induce remission in exacerbations (do not use for mainenance of remission bc of can be dangeorus if used for long periods of time) - Biologic agents: Induce and maintain remission - Infliximab is IgG1 monoclonal antibody against tumor necrosis factor (anti-TNF-alpha) - Widely used in moderate-severe disease who are steroid dependent or steroid refractory - Purine analogs: Maintain remission - 6-mercaptopurine (6-MP) and azathioprine - Very slow onset of action (~3 months) - Methotrexate - Not routinely recommended for maintenance of remission for UC. - Reserved for those who are not surgical candidates for cure and who cannot tolerate or have difficulties with azathioprine or 6-MP. - Do not use antidiarrheal agents routinely due to concern for the development of toxic megacolon. - Surgical therapy - Indications for urgent surgery: Uncontrollable massive bleeding, perforation, toxic megacolon, failure of standard therapy - Predisposes to colon cancer at increasing rate that is correlate with the duration of active disease. - UC should undergo colonoscopy with biopsy every 2 years after having the disease for 8 years.

Question 42

Crohn’s Disease - RF: ___ is a major RF, greater than in UC - Transmural - ____ lesions from mouth to anus (terminal ileum most commonly involved site, nearly 70% of pediatric pts involving some colonic involvement; aphthous ulcers are suggestive of Crohn dx) - Pt: - Abdominal pain and diarrhea are common - ____ and ____ are much more common than with UC - Perianal disease, Fistulas - Aphthous ulcerations - Dx: - Upper and lower GI endoscopy has the most diagnostic yield - ____ appearance of mucosa - _____ granulomas - ___ - ____ on barium swallow - Tx: More challenging managing Crohn’s than UC. - ____ - Provides marked improvement - Purine analogs: Remission - __ or ___ - ___ are more commonly used with Crohn dx than UC - Many use metronidazole or ciprofloxacin for fistulae and perianal abscesses. - Methotrexate - Reserve for those who fail to respond to or have significant complications with 6MP or azathioprine. - Biologic agents - Infliximab, a chimeric IgG1 monoclonal antibody directed against tumor necrosis factor (anti-TNF-alpha), is the 1st biologic agent approved by FDA for clinical use in pts with steroid-refractory intestinal or perianal Crohn disease - Nutrition therapy - Unlike UC, Crohn disease responds to bowel rest - Rec elemental diet for 1 month, excluding other food. - 5-ASA is NOT more effective than placebo - Surgical therapy is NOT definitive, and dx eventually recurs - Less likely than UC to induce colon cancer, but rate of colon cancer is still 20x higher than normal population - Colonoscopy after ___ years of disease and then every __ years afterwards, depending on the degree of colitis.

Answer 42

Crohn’s Disease - RF: Genetics is a major RF, greater than in UC - Transmural - Skip lesions from mouth to anus (terminal ileum most commonly involved site, nearly 70% of pediatric pts involving some colonic involvement; aphthous ulcers are suggestive of Crohn dx) - Pt: - Abdominal pain and diarrhea are common - Weight loss and growth failure are much more common than with UC - Perianal disease, Fistulas - Aphthous ulcerations - Dx: - Upper and lower GI endoscopy has the most diagnostic yield - Cobblestoning appearance of mucosa - Noncaseating granulomas - Pseudopolyp - String sign on barium swallow - Tx: More challenging managing Crohn’s than UC. - Corticosteroids - Provides marked improvement - Purine analogs: Remission - 6-MP or azathioprine - Antibiotics are more commonly used with Crohn dx than UC - Many use metronidazole or ciprofloxacin for fistulae and perianal abscesses. - Methotrexate - Reserve for those who fail to respond to or have significant complications with 6MP or azathioprine. - Biologic agents - Infliximab, a chimeric IgG1 monoclonal antibody directed against tumor necrosis factor (anti-TNF-alpha), is the 1st biologic agent approved by FDA for clinical use in pts with steroid-refractory intestinal or perianal Crohn disease - Nutrition therapy - Unlike UC, Crohn disease responds to bowel rest - Rec elemental diet for 1 month, excluding other food. - 5-ASA is NOT more effective than placebo - Surgical therapy is NOT definitive, and dx eventually recurs - Less likely than UC to induce colon cancer, but rate of colon cancer is still 20x higher than normal population - Colonoscopy after 8 years of disease and then every 1-3 years afterwards, depending on the degree of colitis.

Question 43

Simple Juvenile Polyps - Solitary juvenile polyps are not cancer prone - Pt: - less than ___ juvenile polyps present, usually not a hx of familial polyp syndrome - Classic presentation is intermittent, painless hematochezia - Should be suspected in a young child (typically ages 1-7yo) with intermittent and painless rectal bleeding. - Dx and tx: Polypectomy during colonoscopy

Answer 43

Simple Juvenile Polyps - Solitary juvenile polyps are not cancer prone - Pt: - <5 juvenile polyps present, usually not a hx of familial polyp syndrome - Classic presentation is intermittent, painless hematochezia - Should be suspected in a young child (typically ages 1-7yo) with intermittent and painless rectal bleeding. - Dx and tx: Polypectomy during colonoscopy

Question 44

Polyposis Syndromes should be suspected in children with >____ juvenile polyps, adenomatous polyps, and/or family hx of polyposis or early colorectal cancer. - Children with a suspected polyposis syndrome should be referred for genetic testing - Polyposis syndromes: JPS, Peutz-Jeghers syndrome, FAP

Answer 44

Polyposis Syndromes should be suspected in children with >5 juvenile polyps, adenomatous polyps, and/or family hx of polyposis or early colorectal cancer. - Children with a suspected polyposis syndrome should be referred for genetic testing - Polyposis syndromes: JPS, Peutz-Jeghers syndrome, FAP

Question 45

Juvenile Polyposis Syndrome (JPS) - Pt: - Presence of >__ juvenile polyps - High, long-term risk of malignancy. Affected individuals are 30x more likely to develop colorectal cancer - Management: - Unless a large number of polyps are found, remove all polyps for histology. If you find a single rectosigmoid polyp with typical histology, no further evaluation is necessary. - If >5 juvenile polyps found, or if juvenile polyp with adenomatous changes is found, perform colonoscopy every 6-12 mo until no further polyps are found; check every 2 years after if no further polyps develop. - If a family member has been diagnosed with juvenile polyposis, any other member who has even a single juvenile polyp is considered to also have juvenile polyposis

Answer 45

Juvenile Polyposis Syndrome (JPS) - Pt: - Presence of >5 juvenile polyps - High, long-term risk of malignancy. Affected individuals are 30x more likely to develop colorectal cancer - Management: - Unless a large number of polyps are found, remove all polyps for histology. If you find a single rectosigmoid polyp with typical histology, no further evaluation is necessary. - If >5 juvenile polyps found, or if juvenile polyp with adenomatous changes is found, perform colonoscopy every 6-12 mo until no further polyps are found; check every 2 years after if no further polyps develop. - If a family member has been diagnosed with juvenile polyposis, any other member who has even a single juvenile polyp is considered to also have juvenile polyposis

Question 46

Peutz-Jegher Syndrome - ____Inheritance? disease - Pt: Hematochezia, freckling, family history of polyposis - Mucocutaneous hyperpigmented brown-black macules of lips and gums, 1-5mm, looks like freckles. - GI hamartomatous polyps - Histologically, distinguished from juvenile polyps by presence of _____ within the polyp. - Most common presentation is intermittent colicky abd pain with intestinal obstruction from intussusception, GI bleeding, and anemia - Nearly ½ pts develop cancers outside of colon during lifetime, with most common involving __, __, __, __, and __. Adenomatous changes are found in 5% of P-J polyps - Management - Remove all large polyps - Perform surveillance endoscopy to continue removing polyps as they appear - Survey for _____ - Screen _____

Answer 46

Peutz-Jegher Syndrome - Autosomal dominant disease - Pt: Hematochezia, freckling, family history of polyposis - Mucocutaneous hyperpigmented brown-black macules of lips and gums, 1-5mm, looks like freckles. - GI hamartomatous polyps - Histologically, distinguished from juvenile polyps by presence of smooth muscle bands within the polyp. - Most common presentation is intermittent colicky abd pain with intestinal obstruction from intussusception, GI bleeding, and anemia - Nearly ½ pts develop cancers outside of colon during lifetime, with most common involving breast, cervix, ovary, testicle, and pancreas. Adenomatous changes are found in 5% of P-J polyps - Management - Remove all large polyps - Perform surveillance endoscopy to continue removing polyps as they appear - Survey for other tumors at 10yo or sooner if symptoms have already developed. - Screen all 1st degree relatives regularly after 10yo.

Question 47

Familial Adenomatous Polyposis (FAP) - ____inheritance? disorder with 100% risk of ____. Most are due to ___ gene mutations - Pt: Hundreds of adenomatous polyps, almost always involving the colon. - Management: - ___ is indicated bc of increased risk of ___. - Significant risk for colorectal cancer- Has a 100% lifetime risk of colon cancer

Answer 47

Familial Adenomatous Polyposis (FAP) - AD disorder with 100% risk of colon cancer. Most are autosomal dominant due to APC gene mutations - Pt: Hundreds of adenomatous polyps, almost always involving the colon. - Management: - Thyroid US is indicated bc of increased risk of papillary thyroid cancer. - Significant risk for colorectal cancer- Has a 100% lifetime risk of colon cancer

Question 48

Gardner Syndrome is most commonly described subset - Pt: Characterized by pre-malignancy ____, ____, and extra ____ - Adenomatous polyps of the colon, small intestine, duodenum, stomach - Soft tissue tumors, extra teeth, osteomas, CHRPE (congenital hypertrophy of the retinal pigment epithelium) - Dx: Finding hundreds of adenomatous polyps in the colon, with genetic testing by sequencing the ____ gene to confirm - Tx: - Yearly screening with ___ beginning ___yo - Cyclooxygenase inhibitors has been shown to suppress polyp expression, and pts are maintained on sulindac. - Endoscopic polypectomy prior to complete colon resection. - Early colectomy is performed in majority of pts usually by young adult, and it prevents development of colonic adenocarcinoma - Pts are still at risk for malignant transformation of other tumors, esp those of small bowel. Periodic endoscopic evaluation of upper GI tract, as well as thyroid testing, is recommended bc of increased risk of cancers in these areas. - Screening esophagogastroduodenoscopy (EGD) should be performed every 1-3 years to look for upper GI polyps.

Answer 48

Gardner Syndrome is most commonly described subset - Pt: Characterized by pre-malignancy intestinal polyps, osteomas, and extra teeth - Adenomatous polyps of the colon, small intestine, duodenum, stomach - Soft tissue tumors, extra teeth, osteomas, CHRPE (congenital hypertrophy of the retinal pigment epithelium) - Dx: Finding hundreds of adenomatous polyps in the colon, with genetic testing by sequencing the APC gene to confirm - Tx: - Yearly screening with colonoscopy beginning 10-12yo - Cyclooxygenase inhibitors has been shown to suppress polyp expression, and pts are maintained on sulindac. - Endoscopic polypectomy prior to complete colon resection. - Early colectomy is performed in majority of pts usually by young adult, and it prevents development of colonic adenocarcinoma - Pts are still at risk for malignant transformation of other tumors, esp those of small bowel. Periodic endoscopic evaluation of upper GI tract, as well as thyroid testing, is recommended bc of increased risk of cancers in these areas. - Screening esophagogastroduodenoscopy (EGD) should be performed every 1-3 years to look for upper GI polyps.

Question 49

Bannayan-Riley-Ruvalcaba Syndrome - Path: Most common results from mutation on _____ tumor suppressor gene - Pt: Macrocephaly, pigmented ____ lesions, ____, and _____ (which can cause obstruction)

Answer 49

Bannayan-Riley-Ruvalcaba Syndrome - Path: Most common results from mutation on PTEN tumor suppressor gene - Pt: Macrocephaly, pigmented penile lesions, lipomas, and nonmalignant hamartomatous intestinal polyps (which can cause obstruction)

Question 50

Cowden Syndrome - Path: Most commonly caused by mutation on ____ tumor suppressor gene - Pt: High risk of benign and malignant hamartomas of the ___, ___, and ___, ___, ____ - Hyperkeratotic ______ are characteristic

Answer 50

Cowden Syndrome - Path: Most commonly caused by mutation on PTEN tumor suppressor gene - Pt: High risk of benign and malignant hamartomas of the thyroid, breast, and endometrium, skin, mucous membranes - Hyperkeratotic papillomas of the lips and tongue are characteristic

Question 51

Proteus Syndrome - Pt: ____ and _____ - Gigantism of extremities - Angiomas - Pigmented nevi - Multiple lipomas or hamartomata

Answer 51

Proteus Syndrome - Pt: Hamartomatous polyps and hemihypertrophy - Gigantism of extremities - Angiomas - Pigmented nevi - Multiple lipomas or hamartomata

Question 52

Rectal Prolapse - Causes: - ____ is most common cause - _____ is 2nd most common cause - _____ is always key to remember with rectal prolapse, but remember: Cystic fibrosis is not the most common cause; it is 3rd most common cause - Rectal polyps could be a cause - confirm on colonoscopy - Pt: Red-purple circular protrusion from anus - Differentiate from hemorrhoids. Rectal prolapse has a hole in the center of bulging tissue. - Management: - In the acute setting, if the rectal prolapse does not resolve spontaneously, manual reduction should occur. - If this is unsuccessful, an urgent surgical consultation is needed. - Tx underlying conditions (eg constipation, diarrhea)

Answer 52

Rectal Prolapse - Causes: - Constipation is most common cause - Infectious diarrhea is 2nd most common cause - Cystic fibrosis is always key to remember with rectal prolapse, but remember: Cystic fibrosis is not the most common cause; it is 3rd most common cause - Rectal polyps could be a cause - confirm on colonoscopy - Pt: Red-purple circular protrusion from anus - Differentiate from hemorrhoids. Rectal prolapse has a hole in the center of bulging tissue. - Management: - In the acute setting, if the rectal prolapse does not resolve spontaneously, manual reduction should occur. - If this is unsuccessful, an urgent surgical consultation is needed. - Tx underlying conditions (eg constipation, diarrhea)

Question 53

Imperforate Anus | - Children with trisomy 21 have a much higher incidence than other children

Answer 53

Imperforate Anus | - Children with trisomy 21 have a much higher incidence than other children

Question 54

Meconium Ileum - Path: Usually due to _______. - Meconium peritonitis can develop and be clinically silent, diagnosed only after a KUB x-ray or CT scan shows intraabdominal calcifications (which may also be seen in utero). - Conversely, the findings of intraabdominal calcifications indicates prior meconium peritonitis until proven otherwise. - Abd Xray shows distention of the proximal bowel. Occasionally, the R lower abdomen has a “______” or _______ appearance caused by air mixing with the meconium. - Tx: - Sodium enema is administered under fluoroscopy and refluxed into the terminal ileum - Surgery is indicated if the infant has meconium ileus complicated by intestinal atresia, volvulus, or perforation or if the enema is unsuccessful.

Answer 54

Meconium Ileum - Path: Usually due to cystic fibrosis. - Meconium peritonitis can develop and be clinically silent, diagnosed only after a KUB x-ray or CT scan shows intraabdominal calcifications (which may also be seen in utero). - Conversely, the findings of intraabdominal calcifications indicates prior meconium peritonitis until proven otherwise. - Abd Xray shows distention of the proximal bowel. Occasionally, the R lower abdomen has a “soap bubble” or ground-glass appearance caused by air mixing with the meconium. - Tx: - Sodium enema is administered under fluoroscopy and refluxed into the terminal ileum - Surgery is indicated if the infant has meconium ileus complicated by intestinal atresia, volvulus, or perforation or if the enema is unsuccessful.

Question 55

Hirschsprung Disease (Congenital aganglionic megacolon) - Most common cause of lower intestinal obstruction in neonates - Path - Occurs in utero when neural crest cells fail to migrate from craniocaudal region to distal intestine. - Aganglionic (absence of enteric ganglionic neurons) segment - This causes the aganglionic segment, internal sphincter, and anal canal to remain constantly contracted, resulting in obstructive symptoms. Area proximal to aganglionic segment is dilated and hypertrophied. - Associations - Trisomy 21 / Down syndrome, Joubert syndrome, Bardet-Biedel syndrome, Smith-Lemli-Opitz syndrome, Waardenburg syndrome, Goldberg Shprintzen syndrome - Pt: 2 presentation types - 1) Perinatally with intestinal obstruction (delayed passage of meconium, constipation, abdominal distension) - Abnormal digital rectal examination DRE - 2) At 2-4 weeks (1 mo) of age with enterocolitis, which is the most severe complication of undiagnosed Hirschsprung disease - Path: Unknown. May be due to overgrowth of colonic bacteria in atonic distal colon - Pt: Fever with explosive, foul-smelling stools. Bloody diarrhea and abd distension common - XR shows dilated loops of bowel with air-fluid levels. - Dx: - Gold standard for diagnosis is suction or full-thickness rectal biopsy - Histologically, dx based on absence of any ganglion cells detected in a biopsy with adequate mucosa - Unprepared barium enema is not diagnostic but will demonstrate transition zone between contracted affected bowel in rectum and the dilated proximal normal ganglionated segment - Anorectal manometry can also suggest HSD with absence of reflex relaxation of the internal anal sphincter - Tx: Surgical resection of aganglionic bowel and then reanastomosis of proximal normal bowel to normal anal canal (1 of 3 surgical techniques). - Long-term dysfunction from Hirschsprung dx remains common.

Answer 55

Hirschsprung Disease (Congenital aganglionic megacolon) - Most common cause of lower intestinal obstruction in neonates - Path - Occurs in utero when neural crest cells fail to migrate from craniocaudal region to distal intestine. - Aganglionic (absence of enteric ganglionic neurons) segment - This causes the aganglionic segment, internal sphincter, and anal canal to remain constantly contracted, resulting in obstructive symptoms. Area proximal to aganglionic segment is dilated and hypertrophied. - Associations - Trisomy 21 / Down syndrome, Joubert syndrome, Bardet-Biedel syndrome, Smith-Lemli-Opitz syndrome, Waardenburg syndrome, Goldberg Shprintzen syndrome - Pt: 2 presentation types - 1) Perinatally with intestinal obstruction (delayed passage of meconium, constipation, abdominal distension) - Abnormal digital rectal examination DRE - 2) At 2-4 weeks (1 mo) of age with enterocolitis, which is the most severe complication of undiagnosed Hirschsprung disease - Path: Unknown. May be due to overgrowth of colonic bacteria in atonic distal colon - Pt: Fever with explosive, foul-smelling stools. Bloody diarrhea and abd distension common - XR shows dilated loops of bowel with air-fluid levels. - Dx: - Gold standard for diagnosis is suction or full-thickness rectal biopsy - Histologically, dx based on absence of any ganglion cells detected in a biopsy with adequate mucosa - Unprepared barium enema is not diagnostic but will demonstrate transition zone between contracted affected bowel in rectum and the dilated proximal normal ganglionated segment - Anorectal manometry can also suggest HSD with absence of reflex relaxation of the internal anal sphincter - Tx: Surgical resection of aganglionic bowel and then reanastomosis of proximal normal bowel to normal anal canal (1 of 3 surgical techniques). - Long-term dysfunction from Hirschsprung dx remains common.

Question 56

Small Left Colon Syndrome - Born to mothers with diabetes - Dx: Contrast enema is both diagnostic and therapeutic. Radiographs will demonstrate a transition zone between splenic flexure and small L colon - Tx: Typically, no further intervention is required.

Answer 56

Small Left Colon Syndrome - Born to mothers with diabetes - Dx: Contrast enema is both diagnostic and therapeutic. Radiographs will demonstrate a transition zone between splenic flexure and small L colon - Tx: Typically, no further intervention is required.

Question 57

Functional Diarrhea / Chronic nonspecific diarrhea / Toddler’s disease - Def: >3 loose stools per day without a specific cause - Tx: Most children obtain a normal stool pattern by 4 yo

Answer 57

Functional Diarrhea / Chronic nonspecific diarrhea / Toddler’s disease - Def: >3 loose stools per day without a specific cause - Tx: Most children obtain a normal stool pattern by 4 yo

Question 58

``` Lactase Deficiency (Lactose Intolerance) - Common disorder for pts >2yo ``` - Primary (adult-type) hypolactasia (lactase deficiency) - Most common genetic cause of carbohydrate malabsorption in the world - Infants are universally able to ingest lactose-containing breast milk and other milk products. Most of the world’s population is genetically prone to become lactase deficient by early adulthood, except for Caucasians or northern and central European descent. - Secondary lactase deficiency - Usually transient and due to a secondary cause (eg infectious diarrhea). - Path: - Secondary lactose intolerance (lactase deficiency) following acute gastroenteritis - Congenital lactase deficiency - Rare. Present at birth. Autosomal recessive (AR) - Presents with intractable diarrhea soon after birth - Dx: Clinically - Tests: - Breath hydrogen test is most common reliable diagnostic test - Measurement of stool-reducing sugars (using Clinitest) and fecal pH can be screening methods. - Elevated stool reducing substances - Management - However, 2012 AAP guidelines on acute gastroenteritis advise continuation of a regular diet throughout the diarrheal illness because early refeeding of milk does not prolonged diarrhea.

Answer 58

``` Lactase Deficiency (Lactose Intolerance) - Common disorder for pts >2yo ``` - Primary (adult-type) hypolactasia (lactase deficiency) - Most common genetic cause of carbohydrate malabsorption in the world - Infants are universally able to ingest lactose-containing breast milk and other milk products. Most of the world’s population is genetically prone to become lactase deficient by early adulthood, except for Caucasians or northern and central European descent. - Secondary lactase deficiency - Usually transient and due to a secondary cause (eg infectious diarrhea). - Path: - Secondary lactose intolerance (lactase deficiency) following acute gastroenteritis - Congenital lactase deficiency - Rare. Present at birth. Autosomal recessive (AR) - Presents with intractable diarrhea soon after birth - Dx: Clinically - Tests: - Breath hydrogen test is most common reliable diagnostic test - Measurement of stool-reducing sugars (using Clinitest) and fecal pH can be screening methods. - Elevated stool reducing substances - Management - However, 2012 AAP guidelines on acute gastroenteritis advise continuation of a regular diet throughout the diarrheal illness because early refeeding of milk does not prolonged diarrhea.

Question 59

Fructose and sorbitol malabsorption - Pt: Fruit juices with high fructose-to-glucose ratios and those with sorbitol (apple, pear) can cause nonspecific diarrhea and recurrent abdominal pain

Answer 59

Fructose and sorbitol malabsorption - Pt: Fruit juices with high fructose-to-glucose ratios and those with sorbitol (apple, pear) can cause nonspecific diarrhea and recurrent abdominal pain

Question 60

Sucrase-Isomaltase Deficiency - AR disorder that first appears when sucrose-containing formula or fruits are introduced to the older infant - Tx: Avoiding sucrose-containing foods

Answer 60

Sucrase-Isomaltase Deficiency - AR disorder that first appears when sucrose-containing formula or fruits are introduced to the older infant - Tx: Avoiding sucrose-containing foods

Question 61

Congenital Transport Defects Abetalipoproteinemia and other disorders of fat transport - ___ disorder due to congenital absence of apolipoprotein B (apoB), which results in an inability to synthesize chylomicrons and VLDL. - Pt: - Malodorous steatorrhea and FTT. - _______ is visible on peripheral blood smear bc RBCs have abnormal membrane lipids. - Serum cholesterol is extremely low, and triglyceride levels are just barely detectable. - Dx: Confirm by observing an absence of plasma _____ - Tx: Limit dietary intake of long-chain fatty acids and giving medium-chain triglycerides.

Answer 61

Congenital Transport Defects Abetalipoproteinemia and other disorders of fat transport - AR disorder due to congenital absence of apolipoprotein B (apoB), which results in an inability to synthesize chylomicrons and VLDL. - Pt: - Malodorous steatorrhea and FTT. - Acanthocytosis is visible on peripheral blood smear bc RBCs have abnormal membrane lipids. - Serum cholesterol is extremely low, and triglyceride levels are just barely detectable. - Dx: Confirm by observing an absence of plasma B-lipoprotein. - Tx: Limit dietary intake of long-chain fatty acids and giving medium-chain triglycerides.

Question 62

Hypobetalipoproteinemia - AD disease (is the distinguishing feature) - Pt: Similar manner to abetalipoproteinemia

Answer 62

Hypobetalipoproteinemia - AD disease (is the distinguishing feature) - Pt: Similar manner to abetalipoproteinemia

Question 63

Chylomicron retention disease (Anderson disease) - Pt: Diarrhea, steatorrhea, low serum cholesterol WITHOUT severe acanthocytosis, retinitis pigmentosa, and neurologic abnormalities typical of abeta- and hyperlipoproteinemias

Answer 63

Chylomicron retention disease (Anderson disease) - Pt: Diarrhea, steatorrhea, low serum cholesterol WITHOUT severe acanthocytosis, retinitis pigmentosa, and neurologic abnormalities typical of abeta- and hyperlipoproteinemias

Question 64

Amino acid transport defects - Hartnup disease - Path: Defect in transport of free _____. Results in deficiency of ___ synthesized from tryptophan - Leads to ____-type findings (___, ___, ___)

Answer 64

Amino acid transport defects - Hartnup disease - Path: Defect in transport of free neutral amino acids. Results in deficiency of nicotinamide synthesized from tryptophan - Leads to pellagra-type findings (dermatitis, diarrhea, dementia)

Question 65

- Blue diaper syndrome - Path: Isolated malabsorption of _______ - Pt: Bluish urine-stained diapers, digestive disturbances, irritability, visual difficulties

Answer 65

- Blue diaper syndrome - Path: Isolated malabsorption of tryptophan - Pt: Bluish urine-stained diapers, digestive disturbances, irritability, visual difficulties

Question 66

Congenital chloride diarrhea - Pt: Recognize in utero with _________ - Labs: Because of excess fecal losses of fluid and electrolytes, affected individuals present during the neonatal period with ____natremia, _____chloremia, and metabolic _____ (unlike the metabolic acidosis present in most chronic diarrhea). - Dx: Excessive fecal secretion of chloride

Answer 66

Congenital chloride diarrhea - Pt: Recognize in utero with polyhydramnios - Labs: Because of excess fecal losses of fluid and electrolytes, affected individuals present during the neonatal period with hyponatremia, hypochloremia, and metabolic alkalosis (unlike the metabolic acidosis present in most chronic diarrhea). - Dx: Excessive fecal secretion of chloride

Question 67

Zinc deficiency due to Acrodermatitis enteropathica - ____inheritance? disease metabolic disorder for defect in intestinal zinc absorption - Pt: - Bullous and pustular dermatitis (erythematous scaly patches and plaques most often around the mouth and anus), alopecia, blepharitis, conjunctivitis, diarrhea, FTT. - Breast milk contains missing zinc-binding factor, so symptoms won’t appear in breastfed infant until 2-3 weeks after weaning has occurred. Deficiency develops 1-2 mo after birth in nonbreastfed infant. - Dx: Confirm by clinical findings and zinc concentration less than __ug/dL. - Tx: Oral elemental zinc

Answer 67

Zinc deficiency due to Acrodermatitis enteropathica - AR disease metabolic disorder for defect in intestinal zinc absorption - Pt: - Bullous and pustular dermatitis (erythematous scaly patches and plaques most often around the mouth and anus), alopecia, blepharitis, conjunctivitis, diarrhea, FTT. - Breast milk contains missing zinc-binding factor, so symptoms won’t appear in breastfed infant until 2-3 weeks after weaning has occurred. Deficiency develops 1-2 mo after birth in nonbreastfed infant. - Dx: Confirm by clinical findings and zinc concentration <50ug/dL. - Tx: Oral elemental zinc

Question 68

Short Gut Syndrome - Malabsorption disorder caused by shortened intestinal length - Pt: Defect in ileum- Result is severe with large fluid and electrolyte losses, vitamin B12 deficiency and hypovitaminosis A, D, E, and K (from diminished level of bile salt absorption)

Answer 68

Short Gut Syndrome - Malabsorption disorder caused by shortened intestinal length - Pt: Defect in ileum- Result is severe with large fluid and electrolyte losses, vitamin B12 deficiency and hypovitaminosis A, D, E, and K (from diminished level of bile salt absorption)

Question 69

Congenital microvillus inclusion disease - Most common cause of congenital diarrhea - ___inheritance? disorder - Infants present early in life with severe watery diarrhea and FTT. - If villi of small intestine are examined under a microscope, they show diffuse thinning of the mucosa without crypt hypertrophy or an inflammatory cell reaction.

Answer 69

Congenital microvillus inclusion disease - Most common cause of congenital diarrhea - AR disorder - Infants present early in life with severe watery diarrhea and FTT. - If villi of small intestine are examined under a microscope, they show diffuse thinning of the mucosa without crypt hypertrophy or an inflammatory cell reaction.

Question 70

Whipple Disease - Path: Gram-_____ actinomycete _____ - Pt: Multisystem disorder - Hallmark is finding ____-positive granules in lamina propria. - Tx: Abx for 6mo or longer (____, _____)

Answer 70

Whipple Disease - Path: Gram-positive actinomycete Treopheryma whipplei - Pt: Multisystem disorder - Hallmark is finding periodic acid-Schiff (PAS)-positive granules in lamina propria. - Tx: Abx for 6mo or longer (TMP-SMX, doxycycline)

Question 71

Omphalocele - Ventral, midline defect in abdominal wall at _____ umbilical region - Pt: - Are larger than 4cm and are covered by peritoneal membrane internally and amniotic membrane externally - In contrast, umbilical hernias are covered abdominal wall defects that are <4cm and contain only intestine. - Large umbilical cord with suggestion of possible inclusion of abdominal contents - Associations: 50-75% of neonates with omphalocele have associated congenital anomaly - Other _____ defects: Cardiac, renal, and CNS anomalies (neural tube defects) - _______ - Thoracoabdominal syndrome, lower midline syndrome - Tx: - When born, 1st priority is to stabilize the pt for cardiovascular and respiratory support. No umbilical central lines should be placed as they can penetrate or damage the protective sac of the omphalocele. - Cover exposed omphalocele with plastic wrap and warm, saline-soaked gauze. Begin IV antibiotics. - Karyotyping, head ultrasound, echocardiogram, and surgical consult for closure (silo).

Answer 71

Omphalocele - Ventral, midline defect in abdominal wall at CENTRAL umbilical region - Pt: - Are larger than 4cm and are covered by peritoneal membrane internally and amniotic membrane externally - In contrast, umbilical hernias are covered abdominal wall defects that are <4cm and contain only intestine. - Large umbilical cord with suggestion of possible inclusion of abdominal contents - Associations: 50-75% of neonates with omphalocele have associated congenital anomaly - Other midline defects: Cardiac, renal, and CNS anomalies (neural tube defects) - Beckwith Wiedemann’s - Thoracoabdominal syndrome, lower midline syndrome - Tx: - When born, 1st priority is to stabilize the pt for cardiovascular and respiratory support. No umbilical central lines should be placed as they can penetrate or damage the protective sac of the omphalocele. - Cover exposed omphalocele with plastic wrap and warm, saline-soaked gauze. Begin IV antibiotics. - Karyotyping, head ultrasound, echocardiogram, and surgical consult for closure (silo).

Question 72

Gastroschisis - Path: - Etiology remains unclear, but may involve _____ disruption of normal intestinal development. - Abnormal development of _______, with ischemia to the R paraumbilical area. - Pt: On physical exam gastroschisis presents with abdominal contents herniated usually 2-5cm to the RIGHT of the umbilical cord (off to side of midline) with exposed loops of small/large intestines, WITHOUT a covering membrane (unlike omphalocele), NOT involving the cord. - The lack of an enclosing membrane results in a higher incidence of heat loss, dehydration, and infection, compared to omphalocele. - Associations: - It is less likely, compared to omphalocele, to be associated with other congenital anomalies. - Tx: silo - Like omphalocele, Resuscitation, hydration, temperature control - Immediate surgery is MANDATORY and cannot be delayed. Primary surgical closure is frequently successful. - Postoperative complications include dysmotility and a 15-20% risk of _________

Answer 72

Gastroschisis - Path: - Etiology remains unclear, but may involve vascular disruption of normal intestinal development. - Abnormal development of R omphalomesenteric artery or umbilical vein, with ischemia to the R paraumbilical area. - Pt: On physical exam gastroschisis presents with abdominal contents herniated usually 2-5cm to the RIGHT of the umbilical cord (off to side of midline) with exposed loops of small/large intestines, WITHOUT a covering membrane (unlike omphalocele), NOT involving the cord. - The lack of an enclosing membrane results in a higher incidence of heat loss, dehydration, and infection, compared to omphalocele. - Associations: - It is less likely, compared to omphalocele, to be associated with other congenital anomalies. - Tx: silo - Like omphalocele, Resuscitation, hydration, temperature control - Immediate surgery is MANDATORY and cannot be delayed. Primary surgical closure is frequently successful. - Postoperative complications include dysmotility and a 15-20% risk of necrotizing enterocolitis

Question 73

Acute Pancreatitis - Pt: - Epigastric pain - Persistent vomiting - Acute hemorrhagic/necrotizing pancreatitis - Cullen sign (bluish patchy discoloration around/near umbilicus) and Grey Turner sign (bluish discoloration of flanks from retroperitoneal hemorrhage - Turn to your side to see your flank!) - Dx: Requires 2 of 3 criteria - ______ consistent with pancreatitis (acute onset of abd pain, particularly epigastric pain) - Serum lipase at least ___x the upper limit of normal (higher lipase levels indicate more severe pancreatic inflammation) - Serum lipase is more specific than serum amylase for acute inflammatory pancreatic disease. - ___ findings compatible with acute pancreatitis (pancreatic edema) - Test of choice: Pancreatic ultrasound, which can directly visualize pancreas, can show peripancreatic fluid or an increase in pancreatic size - If the pancreas is not visualized by ultrasound, an abdominal CT scan with oral and IV contrast would be the next step - Rarely, ERCP can be helpful for stone in bile duct, autoimmune hepatitis, sphincter of Oddi dysfunction, anatomic biliary causes. - Tx: - Hospitalization - Aggressive IV hydration (1.5x maintenance), and isotonic LR can improve some outcomes - Monitor fluids and electrolytes and replenish as necessary. - Pts often have 3rd spacing of fluid (eg peripheral edema, pleural effusions), but resist the urge to use diuretics like furosemide bc these pts are still intravascularly dry! - Pain management with opioids - Fasting. Early introduction of full feeds within 24-48 hours as soon as pt improving and desires to eat - Antibiotics are NOT recommended even for ppx in necrotizing pancreatitis - Most pts respond after 2-4 days of therapy.

Answer 73

Acute Pancreatitis - Pt: - Epigastric pain - Persistent vomiting - Acute hemorrhagic/necrotizing pancreatitis - Cullen sign (bluish patchy discoloration around/near umbilicus) and Grey Turner sign (bluish discoloration of flanks from retroperitoneal hemorrhage - Turn to your side to see your flank!) - Dx: Requires 2 of 3 criteria - Abdominal pain consistent with pancreatitis (acute onset of abd pain, particularly epigastric pain) - Serum lipase at least 3x the upper limit of normal (higher lipase levels indicate more severe pancreatic inflammation) - Serum lipase is more specific than serum amylase for acute inflammatory pancreatic disease. - Imaging findings compatible with acute pancreatitis (pancreatic edema) - Test of choice: Pancreatic ultrasound, which can directly visualize pancreas, can show peripancreatic fluid or an increase in pancreatic size - If the pancreas is not visualized by ultrasound, an abdominal CT scan with oral and IV contrast would be the next step - Rarely, ERCP can be helpful for stone in bile duct, autoimmune hepatitis, sphincter of Oddi dysfunction, anatomic biliary causes. - Tx: - Hospitalization - Aggressive IV hydration (1.5x maintenance), and isotonic LR can improve some outcomes - Monitor fluids and electrolytes and replenish as necessary. - Pts often have 3rd spacing of fluid (eg peripheral edema, pleural effusions), but resist the urge to use diuretics like furosemide bc these pts are still intravascularly dry! - Pain management with opioids - Fasting. Early introduction of full feeds within 24-48 hours as soon as pt improving and desires to eat - Antibiotics are NOT recommended even for ppx in necrotizing pancreatitis - Most pts respond after 2-4 days of therapy.

Question 74

Chronic Pancreatitis - Path: - Hereditary/genetic pancreatitis - Autoimmune pancreatitis - Characterized by a combination of 5 features including - Pancreatic histology - Imaging findings - Positive serology - Presence of other autoimmune or inflammatory organ diseases - Prompt response to corticosteroids - In the adult population, serum IgG4 levels have been found to be elevated, but this is less likely in young children. - Dx: Evidence of irreversible pancreatic damage with imaging consistent with chronic damage (eg pancreatic calcifications, pancreatic ductal dilation) or evidence of exocrine or endocrine pancreatic insufficiency.

Answer 74

Chronic Pancreatitis - Path: - Hereditary/genetic pancreatitis - Autoimmune pancreatitis - Characterized by a combination of 5 features including - Pancreatic histology - Imaging findings - Positive serology - Presence of other autoimmune or inflammatory organ diseases - Prompt response to corticosteroids - In the adult population, serum IgG4 levels have been found to be elevated, but this is less likely in young children. - Dx: Evidence of irreversible pancreatic damage with imaging consistent with chronic damage (eg pancreatic calcifications, pancreatic ductal dilation) or evidence of exocrine or endocrine pancreatic insufficiency.

Question 75

Choledochal Cysts - Pt: Triad of _____, _____, and _____ - Associations: - High incidence of ___, mostly ______. - Up to 30% of untreated patients will develop cholangiocarcinoma - Dx: - Abd US (~70% sensitive) shows both intrahepatic and extrahepatic biliary tree dilatation. - Tx: - Early removal of cysts and gallbladder with reconstructive surgery based on anatomic location of cysts

Answer 75

Choledochal Cysts - Pt: Triad of abdominal pain, jaundice, and palpable RUQ mass - Associations: - High incidence of biliary malignancy, mostly cholangiocarcinomata. - Up to 30% of untreated patients will develop cholangiocarcinoma - Dx: - Abd US (~70% sensitive) shows both intrahepatic and extrahepatic biliary tree dilatation. - Tx: - Early removal of cysts and gallbladder with reconstructive surgery based on anatomic location of cysts

Question 76

Caroli Disease - Caroli Disease = abnormality of ductal plate and is due to congenital dilatation of the larger, segmental ______ bile ducts - Caroli syndrome = Caroli disease in combination with congenital _______ - Disease and syndrome are ____inheritance? - Pt: - Recurrent cholangitis and abscesses

Answer 76

Caroli Disease - Caroli Disease = abnormality of ductal plate and is due to congenital dilatation of the larger, segmental intrahepatic bile ducts - Caroli syndrome = Caroli disease in combination with congenital hepatic fibrosis - Disease and syndrome are autosomal recessive. - Pt: - Recurrent cholangitis and abscesses

Question 77

Gilbert Syndrome - ____Inheritance? - Path: Less severe mutation in _____ - Pt: Usually becomes apparent during episodes of stress (like viral illness) or fasting, when pt becomes mildly jaundiced. - Mild, indirect hyperbilirubinemia, usually less than __mg/dL - Tx: No tx required.

Answer 77

Gilbert Syndrome - AR - Path: Less severe mutation in UGT1A1 - Pt: Usually becomes apparent during episodes of stress (like viral illness) or fasting, when pt becomes mildly jaundiced. - Mild, indirect hyperbilirubinemia, usually <5mg/dL - Tx: No tx required.

Question 78

Crigler-Najjar syndrome II (moderate deficiency in conjugation) - Partial activity of bilirubin UGT - Pt: Serum bilirubin levels _____ mg/dL - Tx: - Resolves with ______ and other inducers of cytochrome p450, which can induce the expression of the enzyme in patients with Type 2, but is not recommended for long-term therapy due to neurodevelopmental complications from long-term use

Answer 78

Crigler-Najjar syndrome II (moderate deficiency in conjugation) - Partial activity of bilirubin UGT - Pt: Serum bilirubin levels 15-20 mg/dL - Tx: - Resolves with phenobarbital and other inducers of cytochrome p450, which can induce the expression of the enzyme in patients with Type 2, but is not recommended for long-term therapy due to neurodevelopmental complications from long-term use

Question 79

Crigler-Najjar syndrome I (severe deficiency in conjugation) - Path: Complete absence of bilirubin UGT - Pt: Presents in newborn period with very high unconjugated hyperbilirubinemia (up to ____ mg/dL). - Tx: ____

Answer 79

Crigler-Najjar syndrome I (severe deficiency in conjugation) - Path: Complete absence of bilirubin UGT - Pt: Presents in newborn period with very high unconjugated hyperbilirubinemia (up to 50 mg/dL). - Tx: Requires phototherapy and/or exchange transfusions.

Question 80

Biliary atresia - Most common reason for _____ in the US - Pt: - Neonatal cholestasis typically appears during 2nd or 3rd week of life or at birth - Jaundice, acholic stools (tan/white-colored), and dark urine (due to high-bilirubin excretion through the kidneys) - Dx: - US shows _________ - Neonates with cholestasis should undergo prompt _____ to evaluate for biliary atresia - Liver biopsy will often show ductular proliferation, bile ducts, and portal fibrosis - Gold standard (although not always needed) is _______ in OR - Tx: - _____ procedure to restore bile flow. It is a bile drainage procedure making a hepatoportoenterostomy, allowing bile to flow from the liver into the limb of bowel, bypassing the malformed bile ducts. - Must be done before ____ months of age. - Once Kasai is done, children are at risk for _____ and must be followed carefully for signs of fever and worsening jaundice. - Ultimately, _____is required in all pts with biliary atresia, which is lifesaving.

Answer 80

Biliary atresia - Most common reason for pediatric liver transplants in the US - Pt: - Neonatal cholestasis typically appears during 2nd or 3rd week of life or at birth - Jaundice, acholic stools (tan/white-colored), and dark urine (due to high-bilirubin excretion through the kidneys) - Dx: - US shows absent/ghost gallbladder - Neonates with cholestasis should undergo prompt abdominal US to evaluate for biliary atresia - Liver biopsy will often show ductular proliferation, bile ducts, and portal fibrosis - Gold standard (although not always needed) is Cholangiogram in OR - Tx: - Kasai portoenterostomy procedure to restore bile flow. It is a bile drainage procedure making a hepatoportoenterostomy, allowing bile to flow from the liver into the limb of bowel, bypassing the malformed bile ducts. - Must be done before 3 months of age. - Once Kasai is done, children are at risk for ascending cholangitis and must be followed carefully for signs of fever and worsening jaundice. - Ultimately, liver transplant is required in all pts with biliary atresia. Pediatric liver transplant is lifesaving.

Question 81

Dubin-Johnson Syndrome - Pt: Mild ______ hyperbilirubinemia of 3-8mg/dL. Does NOT result in hepatocellular injury. - Tx: Does not require specific therapy

Answer 81

Dubin-Johnson Syndrome - Pt: Mild conjugated hyperbilirubinemia of 3-8mg/dL. Does NOT result in hepatocellular injury. - Tx: Does not require specific therapy

Question 82

20p12 Deletion Alagille Syndrome (Arteriohepatic dysplasia, Watson-Miller syndrome, Syndromic Duct Paucity) - ______inheritance? - Path: Absence of or mutations in the ___ gene on chromosome 20p - Pt: - Hepatic involvement usually presents during first 3 months of life as cholestasis, jaundice, and pruritus - Cardiac defects - Alagille syndrome (arteriohepatic dysplasia) is associated with __________ - Tetralogy of fallot - Facial features: ____ facies, Prominent forehead, small pointed chin, deep-set eyes with mild hypertelorism - Ocular defects: - Affected children may also have ______, an opaque white ring of Schwalbe around the cornea - Vertebral anomalies (_____, ______) - Ocular defects (ring of schwalbe and iris strands) and butterfly vertebrae do not generally cause symptoms. - Labs: Conjugated hyperbilirubinemia - Management: ______

Answer 82

20p12 Deletion Alagille Syndrome (Arteriohepatic dysplasia, Watson-Miller syndrome, Syndromic Duct Paucity) - Autosomal dominant disorder - Path: Absence of or mutations in the JAG1 gene on chromosome 20p - Pt: - Hepatic involvement usually presents during first 3 months of life as cholestasis, jaundice, and pruritus - Cardiac defects - Alagille syndrome (arteriohepatic dysplasia) is associated with supravalvular PS or branch PS - Tetralogy of fallot - Facial features: Triangular facies, Prominent forehead, small pointed chin, deep-set eyes with mild hypertelorism - Ocular defects (posterior embryotoxon): - Affected children may also have posterior embryotoxon, an opaque white ring of Schwalbe around the cornea - Vertebral anomalies (butterfly vertebrae, abnormal radius/ulna) - Ocular defects (ring of schwalbe and iris strands) and butterfly vertebrae do not generally cause symptoms. - Labs: Conjugated hyperbilirubinemia - Management: - Most pts have a benign course. Cholestasis usually resolves or improves over the 1st year of life and most pts do not develop cirrhosis. - Overall mortality approaches 25% and is typically due to cardiac disease, intercurrent infection, or progressive liver dx. - Do NOT perform Kasai portoenterostomy in infants! - Children are particularly prone to significant intracranial bleeding with even minor head trauma (regardless of liver function and without noticeable coagulopathy)

Question 83

Alpha1-Antitrypsin Deficiency - Most common genetic cause of liver disease in children - Suspect this diagnosis in any child with _______ - Pt: Neonatal jaundice, juvenile cirrhosis, chronic hepatitis, or HCC - Dx: Measure alpha1-antitrypsin concentration and determine alleles in the Pi locus (and hence the phenotype) - Those with ___ genotypes are most severely affected and have both lung and liver disease. - _____ is classic histologic finding in neonates. ___-positive staining of liver is characteristic in >12 weeks age. - Management: - _____

Answer 83

Alpha1-Antitrypsin Deficiency - Most common genetic cause of liver disease in children - Suspect this diagnosis in any child with chronic liver disease - Pt: Neonatal jaundice, juvenile cirrhosis, chronic hepatitis, or HCC - Dx: Measure alpha1-antitrypsin concentration and determine alleles in the Pi locus (and hence the phenotype) - Those with ZZ genotypes are most severely affected and have both lung and liver disease. - Giant-cell hepatitis is classic histologic finding in neonates. PAS-positive staining of liver is characteristic in >12 weeks age. - Management: - Most infants with neonatal liver dx improve by 4mo for unclear reasons. A majority remain healthy throughout childhood. A few present later in life with cirrhosis or HCC.

Question 84

Wilson Disease - ____Inheritance?? disorder - Results in excessive _____ deposition in tissue in eyes, liver, kidneys, and brain, resulting in degenerative changes in the brain and liver and Kayser-Fleisher rings in the cornea. - Suspect this disorder in children and adolescents with unexplained acute or chronic liver dx, neurologic symptoms of unexplained origin, acute hemolysis, psychiatric illness, behavioral change, Fanconi syndrome, or unexplained bone disease. - Pt: - Chronic liver disease and portal HTN - Scleral icterus, splenomegaly, ascites, palmar erythema, thrombocytopenia, elevated aminotransferase levels, mild coagulopathy, - Conjugated hyperbilirubinemia - Neurologic symptoms: Movement disorders, tremors, ataxia, seizures, slurred speech, falling grades, behavioral changes - Psychiatric symptoms: Dementia, depression, schizophrenia, bipolar disorder - Ocular findings: _______ rings on slit lamp exam - Seen in 97% of patients with Wilson disease who have neurologic manifestations. - Frequently absent in children who have only hepatic dx - Renal tubular dysfunction (urinary loss of uric acid, low serum uric acid levels), hemolysis, cardiac arrhythmias, and endocrine disorders - Look alike: _______ - Dx: - Best screening test: Serum ______ level (not diagnostic). Most pts will have ____LOW/HIGH? (100ug/day, sometimes to 1,000ug/day (Normal urinary copper excretion is <40ug/day) - If still uncertain about diagnosis, give dose of ______, which increases urinary excretion of copper to nearly 2,000ug/day in those with Wilson dx - _______ is gold standard for diagnosis and shows markedly elevated hepatic copper content - Screen family members of those with proven dx with serum ceruloplasmin and 24-h urinary copper excretion; if abnormal, perform liver biopsy. - Tx: Treatment is necessary for survival. - _______ and copper-chelating agents, which normally leads to rapid excretion of excess copper. - Limit oral intake of copper to <1mg/day. Have pts avoid foods such as liver, shellfish, nuts, and chocolate - For pts who have fulminant liver failure or decompensated cirrhosis, liver transplant is necessary.

Answer 84

Wilson Disease - AR disorder - Results in excessive copper deposition in tissue in eyes, liver, kidneys, and brain, resulting in degenerative changes in the brain and liver and Kayser-Fleisher rings in the cornea. - Suspect this disorder in children and adolescents with unexplained acute or chronic liver dx, neurologic symptoms of unexplained origin, acute hemolysis, psychiatric illness, behavioral change, Fanconi syndrome, or unexplained bone disease. - Pt: - Chronic liver disease and portal HTN - Scleral icterus, splenomegaly, ascites, palmar erythema, thrombocytopenia, elevated aminotransferase levels, mild coagulopathy, - Conjugated hyperbilirubinemia - Neurologic symptoms: Movement disorders, tremors, ataxia, seizures, slurred speech, falling grades, behavioral changes - Psychiatric symptoms: Dementia, depression, schizophrenia, bipolar disorder - Ocular findings: Kayser-Fleischer rings on slit lamp exam - Seen in 97% of patients with Wilson disease who have neurologic manifestations. - Frequently absent in children who have only hepatic dx - Renal tubular dysfunction (urinary loss of uric acid, low serum uric acid levels), hemolysis, cardiac arrhythmias, and endocrine disorders - Look alike: Depression - Dx: - Best screening test: Serum ceruloplasmin level (not diagnostic). Most pts will have low ceruloplasmin (<20mg/dL) - Early in disease, serum copper levels can be high (poor screening test), and 24-hour urinary copper excretion is increased >100ug/day, sometimes to 1,000ug/day (Normal urinary copper excretion is <40ug/day) - If still uncertain about diagnosis, give dose of D-penicillamine, which increases urinary excretion of copper to nearly 2,000ug/day in those with Wilson dx - Liver biopsy is gold standard for diagnosis and shows markedly elevated hepatic copper content - Screen family members of those with proven dx with serum ceruloplasmin and 24-h urinary copper excretion; if abnormal, perform liver biopsy. - Tx: Treatment is necessary for survival. - D-penicillamine and copper-chelating agents, which normally leads to rapid excretion of excess copper. - Limit oral intake of copper to <1mg/day. Have pts avoid foods such as liver, shellfish, nuts, and chocolate - For pts who have fulminant liver failure or decompensated cirrhosis, liver transplant is necessary.

Question 85

Progressive familial intrahepatic cholestasis (PFIC) - AR disorder that presents in infancy in which bile is not formed properly PFIC1 (Byler disease) - Between 3-6 month with conjugated hyperbilirubinemia and severe, unremitting pruritus - GGT is NORMAL PFIC2 - Have prominent liver disease. Do NOT have pancreatitis or diarrhea. - NORMAL serum GGT but with severe cholestasis PFIC3 - Jaundice is less prominent, but pruritus is still severe. - Cholestasis results in ELEVATED serum GGT levels

Answer 85

Progressive familial intrahepatic cholestasis (PFIC) - AR disorder that presents in infancy in which bile is not formed properly PFIC1 (Byler disease) - Between 3-6 month with conjugated hyperbilirubinemia and severe, unremitting pruritus - GGT is NORMAL PFIC2 - Have prominent liver disease. Do NOT have pancreatitis or diarrhea. - NORMAL serum GGT but with severe cholestasis PFIC3 - Jaundice is less prominent, but pruritus is still severe. - Cholestasis results in ELEVATED serum GGT levels

Question 86

Liver Trauma - Suspect blunt hepatic injury in presence of elevated liver enzymes and conjugated hyperbilrubinemia in child with hx of trauma or in suspected child abuse case. (No correlation bw magnitude of enzyme and bilirubin elevation and severity of trauma). - Main cause of mortality from blunt hepatic trauma is due to injuries to the posterolateral aspect of the R lobe of the liver

Answer 86

Liver Trauma - Suspect blunt hepatic injury in presence of elevated liver enzymes and conjugated hyperbilrubinemia in child with hx of trauma or in suspected child abuse case. (No correlation bw magnitude of enzyme and bilirubin elevation and severity of trauma). - Main cause of mortality from blunt hepatic trauma is due to injuries to the posterolateral aspect of the R lobe of the liver

Question 87

Idiopathic Neonatal (Giant-Cell) Hepatitis - Idiopathic neonatal hepatitis is a catchall phrase for newborns with liver damage in which known infections and metabolic etiologies have been ruled out. - Lab: Elevated bilirubin of 8-12 mg/dL of which >50% is conjugated. - Histology: ____ - Tx: Except for supportive care and fat-soluble vitamin supplementation, no specific therapy is helpful.

Answer 87

Idiopathic Neonatal (Giant-Cell) Hepatitis - Idiopathic neonatal hepatitis is a catchall phrase for newborns with liver damage in which known infections and metabolic etiologies have been ruled out. - Lab: Elevated bilirubin of 8-12 mg/dL of which >50% is conjugated. - Histology: Multinucleated giant cell - Tx: Except for supportive care and fat-soluble vitamin supplementation, no specific therapy is helpful.

Question 88

Hereditary hemochromatosis - Excessive storage of _____ - If ferritin >1000 ng/mL, pt will likely begin to experience CHF, cardiac arrhythmias, diabetes mellitus, hyperpigmentation/bronzing to the skin, arthritis, cirrhosis, and hypogonadism.

Answer 88

Hereditary hemochromatosis - Excessive storage of iron - If ferritin >1000 ng/mL, pt will likely begin to experience CHF, cardiac arrhythmias, diabetes mellitus, hyperpigmentation/bronzing to the skin, arthritis, cirrhosis, and hypogonadism.

Question 89

Reye Syndrome - Acute ____ failure with hyperammonemic encephalopathy - Etiology: Associated with pediatric ____ use in setting of _____ - Pt: Vomiting is a common presenting finding. Soon after emesis, AST/ALT values rise. - Lab findings: Increased transaminases, increased PT/INR/PTT, increased ammonia - Prognosis determined by neurologic rather than hepatic findings

Answer 89

Reye Syndrome - Acute liver failure with hyperammonemic encephalopathy - Etiology: Associated with pediatric aspirin use in setting of influenza or varicella infection - Pt: Vomiting is a common presenting finding. Soon after emesis, AST/ALT values rise. - Lab findings: Increased transaminases, increased PT/INR/PTT, increased ammonia - Prognosis determined by neurologic rather than hepatic findings

Question 90

``` Autoimmune Hepatitis (AIH) - Always look for family hx of autoimmune disorders, such as thyroiditis, arthritis, and IBD. ``` - Dx: - _____ is gold standard in diagnosis. Shows portal lymphoplasmacytic infiltrate. - Finding serum antibody markers in the face of elevated aminotransferases with an elevated total protein (due to hypergammaglobulinemia). - 90% will test positive for one of autoantibodies: ___, _____, ____ - Tx: - 2010 AASLD guidelines suggest beginning ____ in all children with AIH at diagnosis: ______ and ____

Answer 90

``` Autoimmune Hepatitis (AIH) - Always look for family hx of autoimmune disorders, such as thyroiditis, arthritis, and IBD. ``` - Dx: - Liver biopsy is gold standard in diagnosis. Shows portal lymphoplasmacytic infiltrate. - Finding serum antibody markers in the face of elevated aminotransferases with an elevated total protein (due to hypergammaglobulinemia). - 90% will test positive for one of autoantibodies: ASA, anti-smooth muscle antibody (ASMA), anti-liver-kidney microsomal antibody (LKM) - Tx: - 2010 AASLD guidelines suggest beginning immunosuppression in all children with AIH at diagnosis: corticosteroids and azathioprine or 6-MP

Question 91

Primary Sclerosing Cholangitis - Associated with _____ (especially US) and occasionally is ____ positive, both of which indicate immunological etiology - Always consider PSC in any child with IBD if there is evidence of hepatobiliary dysfunction (eg jaundice, elevated LFTs) - Lab testing: - Bile duct injury- Elevated alkaline phosphatase and GGT (cholestatic pattern) in most pts. - Dx: Best test to confirm diagnosis is ____, which shows alternating normal strictures along with dilated portions of the biliary tree, known as “_____” - Histology with classic “_______” is pathognomonic but not common - Tx: Endoscopic management of biliary stricture, supportive care for chronic liver dx. Recommend liver transplant if cirrhosis and portal HTN have occurred.

Answer 91

Primary Sclerosing Cholangitis - Associated with IBD (especially US) and occasionally is ANCA positive, both of which indicate immunological etiology - Always consider PSC in any child with IBD if there is evidence of hepatobiliary dysfunction (eg jaundice, elevated LFTs) - Lab testing: - Bile duct injury- Elevated alkaline phosphatase and GGT (cholestatic pattern) in most pts. - Dx: Best test to confirm diagnosis is ERCP, which shows alternating normal strictures along with dilated portions of the biliary tree, known as “beading” - Histology with classic “onion-skin lesion” is pathognomonic but not common - Tx: Endoscopic management of biliary stricture, supportive care for chronic liver dx. Recommend liver transplant if cirrhosis and portal HTN have occurred.

Question 92

Cholelithiasis (Gallstones) - RFs: Obesity, hemolytic disease (sickle cell), chronic TPN, short bowel syndrome, DM, oral contraceptives, pregnancy, Native Americans/Hispanics - Pt: Biliary colic: RUQ pain, vomiting, jaundice, NO fever - Labs: Can suggest cholelithiasis (elevated levels of transaminases, gamma-glutamyltransferase, and alkaline phosphatase) - Dx: - RUQ US is best initial imaging study to see gallstones - Management - Cholecystectomy (electively) may be indicated with symptomatic cholelithiasis and in asymptomatic individuals with sickle cell disease or other chronic hemolytic anemias. - Routine removal of a gallbladder bc of gallstones without evidence of obstruction is not generally recommended.

Answer 92

Cholelithiasis (Gallstones) - RFs: Obesity, hemolytic disease (sickle cell), chronic TPN, short bowel syndrome, DM, oral contraceptives, pregnancy, Native Americans/Hispanics - Pt: Biliary colic: RUQ pain, vomiting, jaundice, NO fever - Labs: Can suggest cholelithiasis (elevated levels of transaminases, gamma-glutamyltransferase, and alkaline phosphatase) - Dx: - RUQ US is best initial imaging study to see gallstones - Management - Cholecystectomy (electively) may be indicated with symptomatic cholelithiasis and in asymptomatic individuals with sickle cell disease or other chronic hemolytic anemias. - Routine removal of a gallbladder bc of gallstones without evidence of obstruction is not generally recommended.

Question 93

Acute Cholecystitis - Bacterial inflammation of the gallbladder - Fever, RUQ abdominal pain, positive Murphy sign (pt halting inspiration during deep palpation of the RUQ) - Labs: Most have elevated WBC with left shift and mild increases in bilirubin and transaminases. - Dx: US is best to visualize stones or a thickened gallbladder. - Tx: Hospital admission with IV fluids, abx, and NPO bowel rest. Perform cholecystectomy in pts with acute calculous cholecystitis.

Answer 93

Acute Cholecystitis - Bacterial inflammation of the gallbladder - Fever, RUQ abdominal pain, positive Murphy sign (pt halting inspiration during deep palpation of the RUQ) - Labs: Most have elevated WBC with left shift and mild increases in bilirubin and transaminases. - Dx: US is best to visualize stones or a thickened gallbladder. - Tx: Hospital admission with IV fluids, abx, and NPO bowel rest. Perform cholecystectomy in pts with acute calculous cholecystitis.

Question 94

Choledocolithiasis - Common bile duct gallstones - Pt: - RUQ pain, fever, jaundice, acholic stools, and dark urine - ____ is the initial test of choice to visualize gallstones and to evaluate for biliary tract dilation. - ____ is methodology of choice for investigation and tx of common bile duct stones. ERCP can visualize presence of stone and then use balloon catheter to sweep stone out of common bile duct. - Tx: - ____ is indicated

Answer 94

Choledocolithiasis - Common bile duct gallstones - Pt: - RUQ pain, fever, jaundice, acholic stools, and dark urine - Abdominal Ultrasound is the initial test of choice to visualize gallstones and to evaluate for biliary tract dilation. - ERCP is methodology of choice for investigation and tx of common bile duct stones. ERCP can visualize presence of stone and then use balloon catheter to sweep stone out of common bile duct. - Tx: - Cholecystectomy is indicated

Question 95

Cholangitis - Path: Gallstone in common bile duct. ascending infection with gram neg rods or anaerobes - Pt: __ triad = __, ___, __. Reynold’s pentad = +__ and ___ - Dx: RUQ US shows obstruction. - Tx: ___ emergently is dx and tx. → __ (urgently) - ___ and ___. amp-gent and MTZ.

Answer 95

Cholangitis - Path: Gallstone in common bile duct. ascending infection with gram neg rods or anaerobes - Pt: Charcot’s triad = RUQ pain, jaundice, fever. Reynold’s pentad = +hypotension and AMS - Dx: RUQ US shows obstruction. - Tx: ERCP for dx and tx. → cholecystectomy (urgently) - Cipro and MTZ. amp-gent and MTZ.

Question 96

Hydrops of the gallbladder - Acute noncalculous, noninflammatory enlargement of the gallbladder. - Can occur with Kawasaki syndrome, streptococcal pharyngitis, prolonged fasting, TPN, and Henoch-Shonlein purpura - Pt: RUQ pain with palpable mass. - US shows ______ - Tx: - ______

Answer 96

Hydrops of the gallbladder - Acute noncalculous, noninflammatory enlargement of the gallbladder. - Can occur with Kawasaki syndrome, streptococcal pharyngitis, prolonged fasting, TPN, and Henoch-Shonlein purpura - Pt: RUQ pain with palpable mass. - US shows markedly dilated, stone-free gallbladder - Tx: - Acute hydrops rarely requires cholecystectomy

Question 97

Splenectomy - After a splenectomy, pts are at a markedly higher risk for encapsulated organisms- Strep pneumococcal infection, H influenzae type b infection, and N meningococcal sepsis. Other organisms are E coli and staph areus. - Prevention of postsplenectomy sepsis includes: - Vaccination against encapsulated organisms should occur PRIOR to the splenectomy (preferably 2 weeks prior to splenectomy) rather than after the procedure. - If patient has not previously been vaccinated with an age-appropriate regimen, the pt should receive the PCV13 followed by a dose of the PPSV23 after 8 weeks (and at least 2 weeks before splenectomy) and a second dose of PPSV23 after 5 years. - In addition, the pt should receive a single dose of H influenzae type b conjugate vaccine (if not previously been vaccinated with a complete vaccination regimen), a single dose of the quadrivalent meningococcal conjugate vaccine (if not previously administered), and the annual influenza vaccine. - The administration of prophylactic antibiotics to patients younger than 5 years, patients within 2 years of splenectomy, and patients who have already experienced an episode of postsplenectomy sepsis. - Asplenic patients should take either penicillin VK or amoxicillin daily for at least 1 year post-splenectomy and at least until 5yo (whichever comes last). - Asplenic patients with a fever should have an appropriate antibiotic available at home (amoxicillin-clavulanate, cefuroxime, or fluoroquinolone) to take as an initial dose, then go straight to the local ER.

Answer 97

Splenectomy - After a splenectomy, pts are at a markedly higher risk for encapsulated organisms- Strep pneumococcal infection, H influenzae type b infection, and N meningococcal sepsis. Other organisms are E coli and staph areus. - Prevention of postsplenectomy sepsis includes: - Vaccination against encapsulated organisms should occur PRIOR to the splenectomy (preferably 2 weeks prior to splenectomy) rather than after the procedure. - If patient has not previously been vaccinated with an age-appropriate regimen, the pt should receive the PCV13 followed by a dose of the PPSV23 after 8 weeks (and at least 2 weeks before splenectomy) and a second dose of PPSV23 after 5 years. - In addition, the pt should receive a single dose of H influenzae type b conjugate vaccine (if not previously been vaccinated with a complete vaccination regimen), a single dose of the quadrivalent meningococcal conjugate vaccine (if not previously administered), and the annual influenza vaccine. - The administration of prophylactic antibiotics to patients younger than 5 years, patients within 2 years of splenectomy, and patients who have already experienced an episode of postsplenectomy sepsis. - Asplenic patients should take either penicillin VK or amoxicillin daily for at least 1 year post-splenectomy and at least until 5yo (whichever comes last). - Asplenic patients with a fever should have an appropriate antibiotic available at home (amoxicillin-clavulanate, cefuroxime, or fluoroquinolone) to take as an initial dose, then go straight to the local ER.

Question 98

Nonalcoholic fatty liver disease (NAFLD) - Asymptomatic disease with an insidious onset - RF: Obesity is the most significant RF for the development of NAFLD. OSA is also a RF. - Pt: Pts can report nonspecific complaints (malaise, fatigue, vague RUQ pain) but generally have no symptoms - Exam: Reveals little beyond signs of obesity and/or metabolic syndrome. Hepatomegaly is often not present on exam, but if present is often difficult to appreciate. - Labs: Serum _____ is often mildly to significantly elevated; serum alkaline phosphatase and GGT may be elevated as well.

Answer 98

Nonalcoholic fatty liver disease (NAFLD) - Asymptomatic disease with an insidious onset - RF: Obesity is the most significant RF for the development of NAFLD. OSA is also a RF. - Pt: Pts can report nonspecific complaints (malaise, fatigue, vague RUQ pain) but generally have no symptoms - Exam: Reveals little beyond signs of obesity and/or metabolic syndrome. Hepatomegaly is often not present on exam, but if present is often difficult to appreciate. - Labs: Serum ALT is often mildly to significantly elevated; serum alkaline phosphatase and GGT may be elevated as well.

Question 99

Small Intestinal Bacterial Overgrowth (SIBO) - SIBO is the result of increased microbial load on the small intestine, which leads to increased gas production and inflammation (due to the larger bacterial gut burden). - Associated disorders: Short bowel syndrome, intestinal dysmotility syndromes, chronic pancreatitis - Pt - May be asymptomatic or present with diarrhea, steatorrhea, hematochezia, abdominal pain, anemia, weight loss, feeding intolerance, and flatulence - Can lead to small bowel inflammation, villous atrophy, ulcerations, and malabsorption - Dx: Clinical. Gold standard is aspiration and culture of duodenojejunal fluid. - A less invasive test is _______ - Tx: Empiric antibiotics, most common rifaximin or _______.

Answer 99

Small Intestinal Bacterial Overgrowth (SIBO) - SIBO is the result of increased microbial load on the small intestine, which leads to increased gas production and inflammation (due to the larger bacterial gut burden). - Associated disorders: Short bowel syndrome, intestinal dysmotility syndromes, chronic pancreatitis - Pt - May be asymptomatic or present with diarrhea, steatorrhea, hematochezia, abdominal pain, anemia, weight loss, feeding intolerance, and flatulence - Can lead to small bowel inflammation, villous atrophy, ulcerations, and malabsorption - Dx: Clinical. Gold standard is aspiration and culture of duodenojejunal fluid. - A less invasive test is carbohydrate breath hydrogen test (lactulose, glucose). - Tx: Empiric antibiotics, most common rifaximin or metronidazole.