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34 Cards in this Set

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what congenital defect characterized by incomplete closure of the abdominal wall with protrusion of the viscera
gastroschisis
what GI disorder has intact peritoneal sac covering the viscera that protrudes outside the body?
omaphocele
What is the diff of gastroschisis and omaphocele?
gastroschisis is loss of all layer of the abdominal wall and omaphocele still has the perioneal sac intact.
slanted palpebral fissures and epicanthal folds, a flattened face, and a single simian crease on each of a newborn’s broad hands.

disease?
Trisomy 21 (down)
Which congenital GI disorders should you be aware of in a patient with Trisomy 21?
duodenal atresia and hirschsprungs disease
holoprosencephaly
Cleft lip (60-80%)
Flexed fingers with polydactyly
Low set malformed ears
Omphalocele

syndrome?
trisomy 13; platau syndrome.
Overlapping fingers
Short sternum
Rocker bottom feet
Microagnathia
Cardiac malformations
Omphalocele
Cleft lip/palate


syndrome?
trisomy 18; edwards syndrome
Absence of Meissner and Auerbach plexus in the bowel wall
and delayed passage of meconium. what is the disease?

what is the associated syndrome?
hirschsprungs disease

trisomy 21
what is billious emesis?
bile stained vomit
what is a common cause of billious emesis?
Malrotation with volvulus of the intestines.

must be distal to the sphincter of oddi
What is the double bubble sign on radiology a sign of?
duodenal atresia (air is stuck and cannot get distal to the place of atresia).
if someone brings a child to you and says the dad has multiple polyps in the colon and possible cancer since he was 20, what is your next step?

what is the possible disease?
genetic testing for genetic defect in APC gene

Familial adenomatous polyposis (FAP)
what is the diff in gardners syndrome and FAP?
gardners syndrome also has osteomas where as FAP does not.
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.


what do you think is the disease?
biliary atresia
If a pt with biliary atresia is left alone, what may occur?
liver cirrosis
Lack of galactose-1-phosphate uridyl transferase

disease?
galactosemia
Hepatomegaly, cataracts (galcticol accumulation), mental retardation

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

disease?
galactosemia
what is the tx for galactosemia?
cut out galactose from the diet.
what type of milk is ok for a baby with galactosemia?
soy milk
has absent bilirubin UGT (uridine diphosphate-glucuronosyltransferase) activity. Disease?
craigler najjar syndrome type I
If someone goes jaundace under stress but no other time, what might they have?
gilberts syndrome
People with HSP are at increased risk of what bowel problem?
intussuseption
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 seen on the next page.

Dx?
HSP
what Sx separates HSP and intussuseption?
intussuseption has hematochezia and HSP does not.
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.

Dx
pyloric stenosis
what is a common electrolyte problem with someone who has been suffering from pyloric stenosis?

why?
metabolic alkalosis

this is because of the loss of stomach acid.
Baby feeds eagerly, immediately vomits, and is ready to eat again

Dx?
pyloric stenosis
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?
milk protein allergy
what is the criteria used to dx colic?
cry 3 hrs; 3x a week, for 3 weeks.
Abdominal distension
Hematochezia
Feeding intolerance**
Lethargy or shock
kids look deathly sick
Necrotizing entericolitis
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.

possible disease?
celiac disease
hypersensitivity to gluten and these patients cannot eat wheat, or closely related grains—oat, barley, rye
celiac disease
what is the tx for celiac disease?
cut out wheat
can someone with celiac disease eat corn or rice?
yes