Gastroenterology Flashcards

1
Q

What is the most likely diagnosis for pt presenting with exocrine pancreatic insufficiency (malabsorption, failure to thrive, normal sweat chloride test, thoracic dystrophy, bifid thumbs, skeletal abnormalities related to abnormal development of growth palte/ metaphysis, and recurrent bacterial and fungal infections

A

Shwachman-Diamond syndrome

recurrent infections due to cyclic neutropenia

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2
Q

What the barium enema finding suggestive of Hirschsprung disease?

A

aganglionic segment is distal and narrowed while ganglionic segment is proximal and dilated

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3
Q

What is the most likely diagnosis for newborn presenting with deeply pigmented, bluish brown to black spots around his lips, buccal mucosa and mouth, recurrent intussusception (colicky abdomina pain), painless melena, and hematemesis?

A

Peutz-Jeghers syndrome

at risk for adenocarcinoma of GI; elective polypectomy of symptomatic lesions

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4
Q

What is the most likely diagnosis for pt presenting with involuntary passage of stool into underwear during wakeful hours?

A

Functional fecal incontinence

tx: oral stool softner for disimpaction

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5
Q

What is the radiographic finding associated with Intussusception (paroxysmal episodes of colicky abdominal pain with legs drawn to chest, palpable sausage shaped mass in RUQ and currant jelly stool)?

A

Abdominal US showing doughnut shaped mass with alternating areas of hyperechogenicity and hypoechogenicity (aka target sign)

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6
Q

what is the most likely diagnosis for a barium swallow study showing dilated esophagus that tapers into a beak like manner?

A

Achalasia (due to loss of peristalsis in distal esophagus and failure of relaxtion of lower sphincter)

(manometry: increased resting pressure of lower esophageal sphincter)

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7
Q

What is the most likely diagnosis for pt presenting with FFT, diarrhea, rectal bleeding, low grade fecer, perianal abscesses, fistula, erythema nodosum, aphthous ulcers, uveitis and colonscopy showing inflammation of terminal ileum, patchy areas of erythema and ulcers in colon?

A

Crohn disease

skip lesions

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8
Q

What is the most common genetic defect in hereditary pancreatitis?

A

PRSS1 gene (leads to defective trypsinogen that converts to tryspin in pancreas)

(others are CFTR, SPINK1, CTRC)

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9
Q

What is the radiographic finding associated with duodenal atresia?

A

Double bubble sign (gas filled distention of stomach and duodenum)

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10
Q

What is the most likely diagnosis for pt presenting with nausea, bilious vomiting, intercurrent abdominal pain that is relieved by lying prone/ left lateral decub/ knee to chest, and UGI showing mechanical obstruction in 3rd portion of duodenum with dilated stoamch in the setting of rapid weight loss?

A

Superior mesenteric artery syndrome

due to loss of mesenteric fat allowing 2nd/ 3rd portion of duodenum to be compressed

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11
Q

What is the most likely diagnosis for female pt presenting with sudden jaundice, positive AND and Anti-smooth muscle antibodies, negative viral studies, no medication use/ gallstones?

A

Type 1 Autoimmune hepatitis

increased incidence with minocycline use

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12
Q

what is the most likely diagnosis for pt presenting with symmetrically distributed excoriations, papules and vesicles on an erythematous edematous base with crusiting and biopsy confirming granular IgA deposition in upper papillary dermis?

A

Dermatitis herpetiformis

pathognomonic for celiac disease

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13
Q

What GI complication is Mowat-Wilson syndrome (square shaped face and agenesis of corpus callosum) associated with?

A

Hirschsprung disease

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14
Q

What is the most likely diagnosis for newborn (less than 1 month old) presenting with cholestatic jaundice, hepatomegaly, conjugated bilirubinemia, elevated transaminases, no gallbladder on ultrasound and HIDA scan showing no drainage from liver into intestine?

A

Biliary atresia

(progressive sclerotic disease of bile ducts)

(tx surgically to allow liver drainage to prevent liver failure)

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15
Q

What is the test of choice to detect perinatal Hep C infection at the age of 1-2 months old?

A

HCV RNA by nucleic acid amplification

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16
Q

What is the test of choice to detect perinatal Hep C infection for children older than 18 months?

A

IgG enzyme assay for anti-HCV

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17
Q

what is the most likely diagnosis for pt presenting with brownish-yellow discoloration in posterior part of cornea, hepatomegaly/ liver dysfunction, dystonia, tremor, fine/gross motor deficits, depression/ psychosis/ anxiety and decreased serum ceruloplasmin?

A

Wilson Disease

(copper accumulatio due to ATP7B gene)

(autosomal recessive)

(tx: chelating with penicillamine and restrict dietary copper)

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18
Q

What is the most common cause of acute fulminant liver failure in kids in US?

A

drug hepatotoxicty

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19
Q

What part of the intestine is iron absorbed?

A

duodenum

celiac flares can result in poor iron absorption and deficiency

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20
Q

What is the most likely diagnosis for pt presenting with painless rectal bleeding, tachycardia, and anemia but otherwise healthy appearing?

A

Meckel diverticulum
(ectopic gastric tissue)

(dx: technetium99m pertechnetate isotope scan)

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21
Q

What eye manifestation is pathognomic for Wilson disease (copper accumulation)?

A

Kayser-Fleischer rings (brownish-yellow discoloration in posterior part of cornea)

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22
Q

What is the most likely diagnosis for pt presenting with achalasia, alacrima (inability to secrete tears), and adrenal insufficiency?

A

Allgrove syndrome

triple A syndrome

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23
Q

What is the most likely diagnosis for newborn who has nonbilious vomiting with first feed, inability to pass OG tube and drooling?

A

Esophageal atresia

associated with VACTERL

24
Q

What is the most likely diagnosis for pt presenting with recurrent abdominal pain/ constipation, diarrhea, slow weight gain, short stature, tooth enamel defects (discolored teeth with cracks and weak enamel)

A

Untreated Celiac Disease

25
Q

What GI manifestation is associated with ulcerative colitis and elevated GGT?

A

Primary sclerosing cholangitis (inflammation of bile ducts)

dx: MRCP

26
Q

What is the electrolyte abnormality associated with pyloric stenosis?

A

hypochloremic, hypokalemic metabolic alkalosis

27
Q

What is the most likely diagnosis for pt presenting with recurrent (3-5 times in 6 months), episodic, sterotypic (time of onset, duration, symptom) attacks of nausea and vomiting lasting several hours to days, which can be associated with abdominal pain, headache, photophobia, fever, pallor or salivation?

A

Cyclic vomiting syndrome

(develops into recurrent migraines in adolescence)

(tx: amitriptyline if older than 5 years old or cyproheptadine if younger)

28
Q

What 2 GI disorders result in neonatal unconjugated hyperbilirubinemia?

A
  1. Crigler-Najjar syndrome
  2. Gilbert syndrome (prolonged physiologic jaundice; jaundice when ill)

(due to UGT1A1 conjugating enzyme activity being absent or low)

29
Q

What is the etiology of Gastroschisis (herniation of abdominal contents without sac covering)?

A

vascular accident involving the right umbilical vein/ right omphalomesenteric artery

30
Q

What EKG change is associated with hypokalemia?

A

Flattened T wave

31
Q

What is the colonscopy guidelines for a pt with Juvenile colonic polpys (rectal bleeding, palpable mass on rectal exam from age 1-10 years old)?

A

not recommended until 50 years ago

32
Q

What is the initial diagnosis to rule out for a pt presenting with bilious vomiting?

A

Malrotation with volvulus

Dx: UGI

33
Q

What is the most likely diagnosis for newborn presenting with bilious vomiting, abdominal distention, contrast enema showing small diameter sigmoid and descending colon with dilated air filled loops and collection of granular like material in central abdomen?

A
Meconium ileus
(complete obstruction of ileum by meconium)

(associated with cystic fibrosis)

34
Q

What is the most likely diagnosis for pt presenting with fatigue, arthalgias, diabetes, hepatosplenomegaly, bronze and discoloration of skin?

A

Hereditary Hemochromatosis

(iron overload from increased absorption)

(dx: iron studies; liver biopsy, HFE mutation)

35
Q

What is the treatment for pt with Campylobacter infection who is chronically ill (Cystic fibrosis), pregnant or immunocompromised?

A

Azithromycin for 5 days

36
Q

What test can be used to confirm compliance with gluten free diet in pt with celiac disease?

A

normal tTG IgA

tissue transglutaminase IgA antibodies

37
Q

What is the potential complication associated with choledochal cyst?

A

risk of cholangiocarcinoma

38
Q

What is the characteristic biopsy finding associated with celiac disease?

A

mucosal inflammation, short flattened villi, and crypt hyperplasia

39
Q

What is the most common type of esophageal atresia?

A

eosphageal atresia with distal tracheoesophageal fistula

40
Q

What is the initial treatment for intussusception?

A

Air contrast enema

diagnostic and therapeutic

41
Q

What hepatitis infection is associated with concurrent Hepatitis D infection?

A

Hepatitis B

together can lead to severe liver disease

42
Q

What is the best test for suspected C. difficile infection?

A

Stool for C. difficile toxin

43
Q

What are 4 risk factors for jejunal atresia?

A
  1. low birth weight
  2. multiple births
  3. maternal tobacco use
  4. maternal cocaine use
44
Q

what is the most likely diagnosis for pt presenting with odynophagia (pain with swallowing), dysphagia (difficulty swallowing), fever, retrosternal chest pain and endoscopy showing well circumscribed ulcers (volcano like) with normal appearing intervening mucosa especially after high dose steroid use?

A

Herpes esophagitis

tx: acyclovir for 14-21 days

45
Q

What hepatitis infection is associated with symmetrical polyarthralgia/ arthritis, macular/ urticarial rashes, or thrombocytopenia?

A

Hepatitis B

46
Q

What is the most likely diagnosis for pt presenting with atopic history and sudden onset esophageal food impaction (pain and difficulty swallowing food) with associated drooling and muffled speech?

A

Eosinophilic esophagitis

dx: circular rings, linear furros and whitish exudates with eosinophilic infiltration on esophageal biopsy

47
Q

What is the diagnostic test of choice for biliary atresia?

A

intraoperative cholangiogram

48
Q

How long is hepatitis A shed in the stool?

A

for 7 days (pts should would refrain from school for 7 days after onset of symptoms)

49
Q

What lab finding is used to identify infected individuals who are at increased risk of transmitting Hepatitis B virus?

A

Hepatitis B e antigen (HBeAg)

50
Q

What is the most likely diagnosis for newborn presenting with irritability, failure to thrive, diarrhea, eczematous skin and erythematous lesions with bullae and cruisting around mouth, nose and perineum?

A

Acrodermatitis enteropathica

associated with Zinc deficiency

51
Q

How do you treat eosinophilic esophagitis?

A

6 food elimination diet

cow’s milk, egg, wheat, soy, legumes, and shellfish

52
Q

What is the treatment for Gilbert syndrome (jaundice after viral illness)?

A

none, reassurance

53
Q

What medication should be avoided for at least 6 weeks after varicella immunization or active varicella and why?

A

Salicylates

can result in Reye syndrome

54
Q

What is the most likely diagnosis for obese pt presenting with epigastric pain, intermittent RUQ pain, nausea, vomiting and intolerance of fatty foods?

A

Cholelithiasis (gallstone disease)

55
Q

What is the screening test for celiac disease?

A

anti- ttG IgA and total IgA

with patient still consuming gluten