Gastroenterology Flashcards
What does vomiting of undigested food indicate?
Achalasia
Delayed gastric emptying
Rumination
What does bilious vomiting suggest?
GI obstruction beyond the duodenum (e.g.,malrotation)
What is cyclic vomiting?
Cycles of vomiting
Strong FHx migraines
Median age onset ~ 5 years
Slight femalepredominance
The finding of “currant jelly” stool suggests what possible diagnosis?
Intussusception
True or false? Abdominal pain that is nonorganic in nature presents with growth and development problems in the child.
FALSE
What is the most common cause of abdominal pain in children?
Functional abdominal pain
What clues are useful in diagnosing functional abdominal pain?
Pain periumbilical
Growth is normal and appetite is not affected
Symptoms get better on weekends and during vacations
Worse in the morning before school or in the evening before bed
Social stressors - recent divorce or trouble at school
What clues suggest an organic cause for abdominal pain?
Vomiting Weight loss Hematochezia Diarrhoea Night time awakening from pain Fever, rash, oral ulcers, joint pain Melena
What is the most common cause of diarrhea in children?
Infectious
- Often Rotavirus
What are the indications for IV therapy in a child with diarrhea?
Shock
High stool output
Ileus
Monosaccharide intolerance
Do children with resolving diarrhea require special diets?
NO
When is diarrhea considered chronic?
3×/day for > 14 days
By what age does a patient with functional diarrhea (toddler’s diarrhea) typically obtain a normal stool pattern?
4 years of age
Is it rare for a breastfed infant to pass a stool less often than once every 5 days?
NO
Normal is 5-10days per BO
What is the treatment for infant dyschezia?
benign
Ressurance
no Tx
What is the most common cause of constipation in children?
Functional constipation
How do 90% of tracheoesophageal abnormalities present?
Blind upper EA
Fistual between lower oesophageal segment and the lower portion of the trachea, near the carina
What does VACTERL stand for?
V - Vertebral
A - Anal atresia
C - Cardiac (PDA, ASD, VSD)
T - TracheoEsophageal fistula
E - “ “
R - Renal (e.g, urethral atresia with hydronephrosis)
L - Limb anomalies (e.g, humeral hypoplasia, radial aplasia, hexadactyly, proximally placedthumb)
At the bedside, how do you diagnose esophageal atresia with distal tracheoesophageal fistula?
Failure to insert NGT
What is achalasia?
Disorder of the esophagus characterized by incomplete relaxation of the LES and a lack of normal esophageal peristalsis
MOTOR problem
True or false? Achalasia in infancy can be due to a congenital disorder?
TRUE
Is GE reflux a normal process for many infants?
YES
What is the initial treatment for GERD in infants?
Parental reassurance
Which children are at risk for having infection of the esophagus?
HIV
DM
Cancer
Long term glucocorticoid use
How long after ingestion of a caustic substance should upper endoscopy be performed?
12-24 hours after
What are the most common pills that cause pill-induced esophagitis?
Doxycyline, tertracycline, Aspirin, NSAID, Slow K
What is the best way to determine if an ingested coin is in the esophagus?
CXR - coronal plane (face forward)
Spontaneous esophageal perforation is rare but has increased frequency in patients with which 2 disorders?
Ehlers Danlos
Marfan syndrome
How does pyloric stenosis typically present?
Between 3 weeks and 2 months of age
Progressively worsening, nonbilious vomiting
Infant is hungry and eager to feed.
Hypochloremic hypokalaemic metabolic alkalosis
What type of acid-base disorder is seen with pyloric stenosis?
Hypochloremic hypokalaemic metabolic alkalosis
What causes stress gastropathy?
D/t severe physiologic stress:
- Shock
- Metabolic acidosis
- Sepsis, burns
- Head injury
What is the most common identifiable cause of chronic gastritis in children?
H pylori
What usually causes Ménétrier disease?
CMV
Which organism is responsible for most PUD in children?
H pylori
When and how do you diagnose H. pylori infection?
Urea breath test
Tissue testing
Are antibody tests useful in diagnosing active PUD?
No, only good for past exposure
What is the treatment for H. pylori infection?
2 weeks of:
PPI
Clarithromycin, plus
Metronidazole or Amoxicillin
What is Zollinger-Ellison syndrome?
Rare
Produces markedly excessive stomach acid due to a gastrin-secreting tumor (gastrinoma), typically located in the pancreas or duodenal wall
At what age do infants with malrotation classically present?
Bilious emesis in 1st month of life
What does an upper GI series show in an infant with malrotation?
Classic “bird’s beak” of the 2nd or 3rd portion of the duodenum, where the gut is twisted
At what age does intussusception usually occur?
2 months and 5 years
Peak 4 to 10 months
Describe the presenting symptoms of a child with intussusception?
Repeated episodes of severe abdominal pain interspersed with asymptomatic intervals. Vomiting (if obstruction occurs) and hematochezia (if bowel ischemia occurs) are symptoms aswell.
Current jelly stool
Sausage like mass in abdomen
What is the diagnostic procedure of choice in patients with suspected intussusception?
Air-contrast enema
What is the “rule of 2s” in Meckel diverticulum?
Present in 2% of the population (usuallyasymptomatic)
Located within 2 feet of the ileocecalvalve
Measures 2 inches inlength
Measures 2 centimeters indiameter
2:1 male-to-femaleratio
Usually symptomatic before 2 years of age (if and when symptoms are actuallypresent)
What test is preferred to diagnose Meckel diverticulum?
Technetium-99m pertechnetate scan
also called the Meckel scan
Which is associated with other congenital anomalies—jejunoileal or duodenal atresia?
Duodenal = Downs sydnrome
Jejunoileal = NOT associated with congenital
What do abdominal plain x-rays show in neonates with duodenal atresia?
Double bubble
In the U.S., what is the common carbohydrate metabolism deficiency that starts after 2 years of age?
Lactase deficiency
What is the most common reliable test to diagnose lactase deficiency?
Breath hydrogen test
What does the absence of apoB result in?
Abetalipoproteinemia
What is Hartnup disease?
Defect in transport of free neutral amino acids. It results in a deficiency of nicotinamide synthesized from tryptophan and leads to pellagra-type findings.
How do children with abnormal zinc absorption present?
Acrodermatitis enteropathica
Bullous and pustular dermatitis
Additionally, alopecia, blepharitis, conjunctivitis, diarrhea, and FTT are common.
Which dietary protein induces celiac disease?
Gluten
How does the classic GI form of celiac disease present in children < 2 years of age?
Malabsorptive diarrhea, poor weight gain, abdominal distention, and proximal muscle wasting.
Iron def
Children with Type 1 DM and selective IgA deficiency should be screened for what disease?
Coeliac disease
What is congenital microvillus inclusion disease?
AR disorder
Most common cause of congenital diarrhea
If the villi of the small intestine are examined under a microscope, they show diffuse thinning of the mucosa without crypt hypertrophy or an inflammatory cell reaction.
What organism causes Whipple disease?
Gram-positive actinomycete called Tropheryma whipplei
What is the most common surgical emergency in children?
Appendicitis
If the pain of appendicitis suddenly resolves, what has likely happened?
Rupture
What is typhlitis?
Inflammation of the cecum
Mainly seen during periods of neutropenia in patients who are being treated for leukemia
What are the 2 forms of IBD?
UC
Crohns
What are the differences between UC and Crohn disease regarding bowel involvement, tissue involvement, granulomas, and perianal disease?
UC = PR bleeding, Colon only, Superficial ulcers, No granuloma, No perianal disease
Crohns = abdo pain, top to bottom, perianal disease common, full thickness skip lesions, Yes granulomas
How do you diagnose UC?
Endocolon
Which drugs are used for both the remission and maintenance of UC?
5 ASA
& Infliximab
Which is transmural—Crohn’s or UC?
Crohns
In which part of the GI tract does Crohn disease most commonly occur?
Terminal ileum
Which is more likely to cause weight loss and growth problems, Crohn’s or UC?
Crohns!
Is surgical therapy curative for Crohn disease?
No
What is the difference in cancer risk between a solitary juvenile polyp and juvenile polyposis?
Solitary = no cancer risk
Polyposis = High long term risk of malignancy
What are the presenting symptoms of Peutz-Jeghers syndrome?
GI hamartomatous polyps
& Mucocutaneous hyperpigmentation of the lips and gums.
Is there an increased risk of cancer in patients with Peutz-Jeghers syndrome?
YES
Most common involving the breast, cervix, ovary, testicle, and pancreas;
2–13% develop colon cancer. Adenomatous changes are found in about 5% of Peutz-Jegherspolyps
What does Gardner syndrome consist of?
Adenomatous polyposis of the colon, small bowel, duodenum, and stomach. Other findings include soft tissue tumors, extra teeth, osteomas, and congenital hypertrophy of the retinal pigment epithelium (CHRPE)
In children, what is the most common malignant tumor of the small intestine?
Lymphoma
What is an omphalocele?
Omphalocele is a ventral, midline defect in the abdominal wall at the umbilical region that can contain both hollow and solid visceral abdominal organs.
Omphaloceles are larger than 4 cm and are covered by peritoneal membrane internally and amniotic membrane externally
If an omphalocele is present, should you suspect another congenital anomaly or is it likely an isolated event?
50–75% of neonates with an omphalocele have an associated congenital anomaly, including thoracoabdominal syndrome (known as the pentalogy of Cantrell), lower midline syndrome, and Beckwith-Wiedemann syndrome.
About 25% have major chromosomal abnormalities, including thetrisomies.
What is a gastroschisis?
Gastroschisis presents as a 2–5 cm lateral abdominal wall defect, just to the right of the umbilicus, with exposed (no membrane!) loops of small and large intestines that are short and thick due to an inflammatory reaction of the serosa
No solid organs involved
Umbi cord normal
True or false? Congenital anorectal disorders are usually isolated findings.
FALSE
Often part of VACTERYL
Which chromosomal abnormality has an increased risk of imperforate anus?
Trisomy 21
What are the 3 most common causes of rectal prolapse?
1st = Constipation 2nd = Infectious diarrhoea 3rd = CF
What is the most common cause of rectal bleeding in children?
Anal fissures
What is the etiology of Hirschsprung disease?
Occurs in utero when neural crest cells fail to migrate from the craniocaudal region to the distal intestine.
A term infant is 48 hours old and has not passed meconium. Is it necessary at this point to evaluate for Hirschsprung’s?
YES
How does enterocolitis present in infants with Hirschsprung’s?
Occurs during the 2nd to 4th weeks of life and is characterized by fever with explosive, foul-smelling stools. Bloody diarrhea is common, as is abdominal distention
X-ray shows dilated loops of bowel with air-fluid levels
What is the gold standard procedure used to diagnose Hirschsprung’s?
Rectal biopsy - absence of any ganglion cells
A biopsy shows histologic absence of what structures in a patient with Hirschsprung disease?
Absence of any ganglion cells
What is Shwachman-Diamond syndrome?
AR disorder
2nd most common cause of exocrine pancreatic insufficiency
-> Acinar cell hypoplasia, with intact function of the pancreatic ducts
Short stature
Intermittent or persistent neutropenia -> infections
Skeletal abnormalities
1/3 develop myeloproliferative malignancies
What are the commonly identified causes of acute pancreatitis in children?
Biliary obstruction from gallstones
Idiopathic (many of these are probablyviral)
Blunt abdominaltrauma
Multisystemdisease
What is Cullen sign? Grey Turner sign?
Signs of acute hemorrhagic pancreatitis
Cullen sign (bluish patchy discoloration around/near the umbilicus) Grey Turner sign (bluish discoloration of the flanks from retroperitoneal hemorrhage—“Turn to your side to see your flank!”)
Which radiologic test is usually most helpful in diagnosing acute pancreatitis?
USS
What is the most common cause of chronic pancreatitis?
Idiopathic - most common
Hereditary causes
Which radiologic modality is useful for diagnosing choledochal cysts?
Use ultrasound to show both intrahepatic and extrahepatic biliary tree dilatation.
Radionuclide scans can show cysts with accumulation of tracer.
ERCP or MRCP can be useful for determining theanatomy.
What type of cancer commonly occurs in a choledochal cyst if it is not removed?
Cholangiocarcinomata
What is Caroli disease?
Abnormality of the ductal plate and is due to a congenital dilatation of the larger, segmental intrahepatic bile ducts
AR
Presents with recurrent cholangitis and abscess
What is Alagille syndrome?
AD with variable penetrance
Caused by mutations in a single gene, JAG1 (which encodes protein ligands for NOTCH1), on chromosome 20p.
Peripheral pulmonary artery stenosis
Occasionally TOF
Neonatal cholestasis - Conjugated
Classically, present with chronic cholestatic liver disease with a paucity of small intrahepatic ducts,
“butterfly” vertebrae,
abnormal radius/ulna,
posterior embryotoxon of the eye (a developmental abnormality marked by a prominent white ring of Schwalbe and iris strands that partially obscure the chamber angle), and
characteristic facies (prominent forehead; moderate hypertelorism; a small, pointed chin; and a saddle or straightnose)
What are the cardiovascular findings seen with Alagille syndrome?
TOF
How is hepatitis A transmitted from person to person?
Faecal oral route
Which laboratory test is used to diagnose acute hepatitis A?
anti HAV IgM
What can be given to household contacts to prevent spread of hepatitis A once a case has been identified?
Hep A Vaccine or Immunoglobulin within 2 weeks of exposure
How is hepatitis B transmitted?
Sexual contact - most common in adolescents and adults
Contaminated body fluids
Contaminated needles
Transplacentally
Which laboratory test indicates immunity to hepatitis B?
Anti HBS IgG positive
Which laboratory test correlates with increased infectivity of the patient with hepatitis B?
Detecting both HBsAg and HBeAg indicates active virions and high infectivity
What is the window period for hepatitis B infection?
Several weeks
Hepatitis B is associated with which autoimmune reaction?
?
Once infected with acute hepatitis B, who is more likely to develop chronic hepatitis B—an infant or an adolescent?
Children! 90% if affected at birth
5% if affects as teen
In adults, chronic hepatitis B is associated with which 2 serious conditions?
Cirrhosis
HCC
Prior to 1992, what was a common mode of transmission of hepatitis C?
Blood transfusion
Which is more likely to cause chronic hepatitis—hepatitis B or hepatitis C?
HCV 70-80% vs. HBV 1%
Hepatitis C is associated with which vasculitides?
Small vessel vasculitis with glomerulonephritis and neuropathy
Mixed cryoglobulinemia
Porphyria cutanea tarda
Which coinfection does hepatitis D require to cause infection?
HBV infection
How is hepatitis E transmitted?
Faecal oral
Just like Hep A
In whom is hepatitis E most virulent?
3rd trimester pregnancy
Can EBV cause significant liver disease?
occasionally, more if immunocompromised
What is Gilbert syndrome?
Caused by a less severe mutation in UGT1A1 or its promoter.
This results in a mild, indirect hyperbilirubinemia, usually < 5 mg/dL.
No Tx
How does Crigler-Najjar syndrome Type I differ from Crigler-Najjar syndrome Type II?
Crigler-Najjar syndrome Type I (CN I; severe deficiency inconjugation)
- > kernicterus
- unconjugated
Crigler-Najjar syndrome Type II (CN II; mild-to-moderate deficiency inconjugation)
- unconjugated
What is Dubin-Johnson syndrome?
Causes conjugated hyperbilirubinemia
- (unlike Gilbert and Crigler-Najjar, which are unconjugated hyperbilirubinemias)
D/t deficiency in the cMOAT/MRP2 gene, which encodes the canalicular transporter of conjugated bilirubin
How does α1-antitrypsin deficiency present?
Liver disease can present as neonatal jaundice, juvenile cirrhosis, chronic hepatitis, or HCC
Cholestatic jaundice in 10–15% of infants who are homozygous
50% have abnormal LFTs
What are the eye findings in Wilson disease?
Kayser-Fleisher rings
How do you diagnose Wilson disease?
Liver biopsy
How does PFIC1 present?
3 and 6 months
Conjugated hyperbilirubinemia and severe, unremitting pruritus
But GGT is normal!!
What drug is associated with Reye syndrome?
Aspirin
- when have intercurrent viral illness with Chickenpox or Influenza
- > Acute liver failure and hyper ammonia encephalopathy
What drug is administered to patients with acetaminophen toxicity in order to replenish glutathione stores?
N-acetylcysteine replenishes glutathione stores and allows the liver to metabolize acetaminophen without generating toxic metabolites
How do you diagnose autoimmune hepatitis?
Serum antibody markers
Elevated aminotransferases
Elevated total protein (due to hypergammaglobulinemia)
What is associated with primary sclerosing cholangitis?
IBD - especially UC
ANCA +ve
What is the best radiologic test to confirm primary sclerosing cholangitis?
Endoscopic retrograde cholangiography
- which shows alternating normal strictures along with dilated portions of the biliary tree, known as “beading”
What tests should be done quickly to diagnose extrahepatic biliary atresia?
Abdominal ultrasound—this can show an absentgallbladder
Liver biopsy—this will often show ductular proliferation, bile plugs, and portalfibrosis
If these tests are suggestive of biliary atresia, do an intraoperative cholangiogram. If this is positive, the surgeon can perform a Kasai portoenterostomyimmediately.
What procedure should be performed as soon as possible for extrahepatic biliary atresia?
Kasai procedure
Which children are more likely to develop gallstones?
Obesity Hemolytic disease (particularly sickle cell) Chronic TPN Short bowel syndrome DM Oral contraceptives And pregnancy in adolescent females
Under what conditions are hydrops of the gallbladder found?
Kawasaki syndrome Streptococcal pharyngitis Prolonged fasting TPN Henoch-Schönlein purpura (HSP)
What is the most common malignant liver tumor of childhood? Which laboratory test is elevated?
Hepatoblastomata
Alpha fetoprotein HIGH
