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42 Cards in this Set

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A congenital defect characterized by incomplete closure of the abdominal wall with protrusion of the viscera...
big difference btw omphalocele and gastroschisis?
omphalocele has an intact peritoneal sac... you just didn't get muscular growth
upward slanted palpebral fissures and epicanthal folds and a single simian crease... what does this describe?
Trisomy 21
Which congenital disorders should you be aware of in a patient with Trisomy 21?
Duodenal atresia, Hirschprung dz. Transesophageal Fistula
1 in 100000 births, can have cleft lip, omphalocele, and holoprosensephaly...not normally compatible with life
Trisomy 13 (Patau syndrome)
Rocker bottom feet, 95% lethal by year one, omphalocele, cleft lip/palate
Trisomy 18 --Edwards syndrome
Duodenal atresia
Hirschprung disease
Tracheoesophageal fistula

flat face, cardiac malformations, upward slanted palpebral fissures with epicanthal folds
Trisomy 21--Downs
Hirschsprung disease
Congenital Aganglionic Megacolon

Absence of Meissner and
Auerbach plexus in the bowel wall

Presents at birth with delayed passage of stool
baby doesn't have a stool within the first 24 hours of life...what do they likely have? What is this commonly associated with?

Trisomy 21
what is used to diagnose Hirschprung Dz?
barium enema
A 5 day old full term infant presents to the ER with a history of bile stained emesis. She had an unremarkable course in the newborn nursery. She was discharged at 48h old and was breastfeeding fairly well. Exam reveals an afebrile infant with tachycardia and no audible bowel sounds. An abdominal x-ray shows a paucity of bowel gas.

Of the following, the MOST likely diagnosis is:
Anal atresia
Malrotation with volvulus
Milk protein allergy
Esophageal atresia
key words are bile stained emesis and NO AUDIBLE BOWEL SOUNDS..which is bowel emesis

Malrotation with volvulus
what is associated with

duodenal atresia
other small bowel atresias/obstruction
septic ileus
intussusception (late sign)
Bilious emesis
where is the obstruction in a pt with bilious emesis
Bilious emesis is always abnormal and indicates obstruction distal to the common bile duct insertion into the duodenum
double bubble on xray=?

associated with what?
doudenal atresia

trisomy 21
ppl with:

Esophageal atresia
Pyloric stenosis
Biliary atresia
Hirschprung disease

cannot get what problem?
Bilious emesis

Esophageal atresia—obstruction is in the esophagus, sometimes with a fistula to the trachea
Pyloric stenosis—obstruction is at the stomach’s pylorus
Biliary atresia—obliteration of the extrahepatic biliary tree
Hirschprung disease—large bowel, incomplete obstruction
A mother brings in her 2 year old son for a health supervision visit. Family history reveals that the boy’s father had a colectomy for colon polyps. Results of the boy’s exam were normal. The mother asks if her son is at increased risk for polyps and cancer. You review the father’s medical records, which indicate that his colectomy was performed at age 20 because of the discovery of multiple adenomas in the colon.
Of the following, the BEST recommendation for the son at this time is:
A colonoscopy to survey for polyps
Annual fecal occult blood test
Bowel biopsy
Genetic testing to determine his risk
Nothing at this time
key words: 2 year old, dad had colectomy at 20

Genetic testing to determine his risk (he can get cancer)

this kid is at risk for FAP...(remember APC-->K-Ras-->p53)
What are the genetics underlying FAP?
Defect in the APC gene on chromosome 5q21 (tumor suppressor gene)
What is Gardner's syndrome?
variant of FAP

autosomal dominant

intestinal polyps

multiple osteomas

can lead to cancer
You are evaluating a one month old full term infant who has persistent jaundice. The parents explain that his stools were green 2 weeks ago and now are pale gray. Exam findings are unremarkable, except for a liver that is now palpable 4cm below the costal margin when it wasn’t before. The infant’s total bilirubin is 6.1mg/dL and direct bilirubin is 4.2mg/dL. Liver function tests are elevated—Alanine amino transferase is 240U/L and aspartate amino transferase is 160U/L. A hepatobiliary iminodiacetic acid (HIDA) nuclear medicine scan demonstrates absence of excretion of tracer into the bowel.

Name the most likely diagnosis
Biliary atresia
Cystic fibrosis
Breast milk jaundice
Hirschprung disease
keywords: Persistnent jaundice, stools are pale gray, Liver function tests are elevated, hepatobiliary scan has absence of excretion of tracer into the bowel

Answer: Biliary atresia
put something into the liver, it is taken up, but it then can't get out..what does the pt have? Tx?
biliary atresia

Paliatively treated with hepatoportoenterostomy (whew!) aka Kasai procedure to create bile drainage

note: If left alone, patients will develop cirrhosis
gold standard for diagnosing biliary atresia?
Liver biopsy
child has failure to thrive, hepatomegaly, cataracts, and mental retardation (that was preventable)... what is the diagnosis? tx?

Lack of galactose-1-phosphate uridyl transferase causing accumulation of galactose-1-phosphate in the liver, eye lens, kidney, heart muscle, brain, and erythrocytes

Tx: removal of galactose from diet
Should a baby with galactosemia…

Be breast fed?
Be fed cow’s milk?
Be fed lacto-free formula?
Be fed soy formula?
Be breast fed? No
Be fed cow’s milk? No
Be fed lacto-free formula? Trick question, No

Be fed soy formula? Yes!**
What is Type I Crigler Najjar Syndrome?
really super high bilirubin because you have no Glucuronyltransferase...

thus they cannot conjugate bilirubin

kids are likely to get kinicterus
What is Type II Crigler Najjar Syndrome?
High bilirubin but you have some glucuronyltransferase so you are able to conjugate some bilirubin

not likely to get kinicterus
What is Gilbert's syndrome
get unconjugated bilirubin that elevates with stress

not a big deal
Which of the following has absent bilirubin UGT (uridine diphosphate-glucuronosyltransferase) activity?

Crigler Najjar syndrome type I
Crigler Najjar syndrome type II
Gilbert syndrome
Physiologic jaundice of the newborn
Crigler Najjar syndrome type I
A 6 year old male is brought to the emergency room with colicky abdominal pain, tea colored urine, and a rash. On examination, you note edema of his ankles and the palpable rash ... what do they have? What GI problem do you have to worry about?
key words: colicky abdominal pain, tea colored urine, rash, edema, palpable rash

Henoch-Schonlein Purpura (HSP)

worry about Intussusception
what GI problem is associated with Henoch-Schonlein Purpura (HSP)?
pt with Hematochezia, abdominal pain, and Henoch-Schonlein Purpura...what are they at risk for?

(note Hematochezia: maroon colored stool)
what is a "lead point" for HSP?
Mucosal hemorrhage
A 4 week old male infant has been vomiting all his feedings for the last 2 days. His mother reports decreased urine output but no fever. On physical exam, he is alert, irritable but consolable, and moderately dehydrated. When he is offered a bottle, he takes it eagerly and then vomits formula forcefully. Abdominal exam reveals a small mass in the epigastrum.
The MOST likely diagnosis is:
Malrotation with midgut volvulus
Necrotizing enterocolitis
Duodenal atresia
Gastroesophageal reflux
Pyloric stenosis
Key words: eagerly vomits formula forecfully, small mass in the epigastrum

Pyloric stenosis

(this is projectile stenosis)

Currant jelly stool=
projectile vomiting=
bilious vomiting=
Currant jelly stool=intussusception
projectile vomiting=pyloric stenosis
bilious vomiting=duodenal atresia
The MOST likely abnormality to expect on lab for a person with projectile vomiting:

Metabolic alkalosis
Metabolic acidosis
Metabolic alkalosis
recurrent emesis in projectile vomiting leads to what problem?
loss of fluid, hydrogen and chloride leading to

hypochloremic metabolic alkalosis
note: in projectile vomiting in the baby, they want to keep eating
they are happy eaters
A 2 month old infant is brought to your office with spitting and fussiness with feeds for 3 weeks. On exam he is a calm, smiling baby but his stool tests positive for blood. What is the likely cause?

Lactose intolerance
Milk protein allergy
Gastroesophageal reflux
Necrotizing enterocolitis
Milk protein allergy
osmotic diarrhea, no blood in it, seen after having formula...
lactose intolerance
Very low birth weight baby is seen in the NICU. They have abdominal distension, hematochezia, feeding intolerance and lethargy. What do they have?
Necrotizing enterocolitis
You follow an 18 month old male in your practice who has over a short time developed poor weight gain, diarrhea, flatulence and fatigue. On exam, he has a protuberant abdomen, thin arms and legs, and he is 2 standard deviations below the mean for height and weight. His weight gain was fine while his diet consisted of breast milk and rice cereal. He now eats with the family—a well balanced diet of meat, vegetables, grains and whole milk.
What disorder should concern you most?
Necrotizing enterocolitis
Lactose intolerance
Celiac disease
Hirschprung disease
Biliary atresia
Key words: poor weight gain, diarrhea, flatulence and fatigue. elow the mean for height and weight, his weight gain was fine while his diet consisted of breast milk and rice cereal

answer: Celiac Disease
given the following, what can/can't a pt with sprue eat

Corn: ok
Rice: ok
Wheat: NO
Oat: NO
Barley: NO
Rye: NO
if a celiac pt eats corn, rice, wheat, what will happen?
small intestine becomes damaged due to cytokine release from T cells
Symptoms vary—diarrhea, flatulence, weight loss, fatigue, short stature