Gastroenterology Flashcards
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
Shwachman-Diamond syndrome
recurrent infections due to cyclic neutropenia
What the barium enema finding suggestive of Hirschsprung disease?
aganglionic segment is distal and narrowed while ganglionic segment is proximal and dilated
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?
Peutz-Jeghers syndrome
at risk for adenocarcinoma of GI; elective polypectomy of symptomatic lesions
What is the most likely diagnosis for pt presenting with involuntary passage of stool into underwear during wakeful hours?
Functional fecal incontinence
tx: oral stool softner for disimpaction
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)?
Abdominal US showing doughnut shaped mass with alternating areas of hyperechogenicity and hypoechogenicity (aka target sign)
what is the most likely diagnosis for a barium swallow study showing dilated esophagus that tapers into a beak like manner?
Achalasia (due to loss of peristalsis in distal esophagus and failure of relaxtion of lower sphincter)
(manometry: increased resting pressure of lower esophageal sphincter)
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?
Crohn disease
skip lesions
What is the most common genetic defect in hereditary pancreatitis?
PRSS1 gene (leads to defective trypsinogen that converts to tryspin in pancreas)
(others are CFTR, SPINK1, CTRC)
What is the radiographic finding associated with duodenal atresia?
Double bubble sign (gas filled distention of stomach and duodenum)
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?
Superior mesenteric artery syndrome
due to loss of mesenteric fat allowing 2nd/ 3rd portion of duodenum to be compressed
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?
Type 1 Autoimmune hepatitis
increased incidence with minocycline use
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?
Dermatitis herpetiformis
pathognomonic for celiac disease
What GI complication is Mowat-Wilson syndrome (square shaped face and agenesis of corpus callosum) associated with?
Hirschsprung disease
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?
Biliary atresia
(progressive sclerotic disease of bile ducts)
(tx surgically to allow liver drainage to prevent liver failure)
What is the test of choice to detect perinatal Hep C infection at the age of 1-2 months old?
HCV RNA by nucleic acid amplification
What is the test of choice to detect perinatal Hep C infection for children older than 18 months?
IgG enzyme assay for anti-HCV
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?
Wilson Disease
(copper accumulatio due to ATP7B gene)
(autosomal recessive)
(tx: chelating with penicillamine and restrict dietary copper)
What is the most common cause of acute fulminant liver failure in kids in US?
drug hepatotoxicty
What part of the intestine is iron absorbed?
duodenum
celiac flares can result in poor iron absorption and deficiency
What is the most likely diagnosis for pt presenting with painless rectal bleeding, tachycardia, and anemia but otherwise healthy appearing?
Meckel diverticulum
(ectopic gastric tissue)
(dx: technetium99m pertechnetate isotope scan)
What eye manifestation is pathognomic for Wilson disease (copper accumulation)?
Kayser-Fleischer rings (brownish-yellow discoloration in posterior part of cornea)
What is the most likely diagnosis for pt presenting with achalasia, alacrima (inability to secrete tears), and adrenal insufficiency?
Allgrove syndrome
triple A syndrome
What is the most likely diagnosis for newborn who has nonbilious vomiting with first feed, inability to pass OG tube and drooling?
Esophageal atresia
associated with VACTERL
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)
Untreated Celiac Disease
What GI manifestation is associated with ulcerative colitis and elevated GGT?
Primary sclerosing cholangitis (inflammation of bile ducts)
dx: MRCP
What is the electrolyte abnormality associated with pyloric stenosis?
hypochloremic, hypokalemic metabolic alkalosis
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?
Cyclic vomiting syndrome
(develops into recurrent migraines in adolescence)
(tx: amitriptyline if older than 5 years old or cyproheptadine if younger)
What 2 GI disorders result in neonatal unconjugated hyperbilirubinemia?
- Crigler-Najjar syndrome
- Gilbert syndrome (prolonged physiologic jaundice; jaundice when ill)
(due to UGT1A1 conjugating enzyme activity being absent or low)
What is the etiology of Gastroschisis (herniation of abdominal contents without sac covering)?
vascular accident involving the right umbilical vein/ right omphalomesenteric artery
What EKG change is associated with hypokalemia?
Flattened T wave
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)?
not recommended until 50 years ago
What is the initial diagnosis to rule out for a pt presenting with bilious vomiting?
Malrotation with volvulus
Dx: UGI
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?
Meconium ileus (complete obstruction of ileum by meconium)
(associated with cystic fibrosis)
What is the most likely diagnosis for pt presenting with fatigue, arthalgias, diabetes, hepatosplenomegaly, bronze and discoloration of skin?
Hereditary Hemochromatosis
(iron overload from increased absorption)
(dx: iron studies; liver biopsy, HFE mutation)
What is the treatment for pt with Campylobacter infection who is chronically ill (Cystic fibrosis), pregnant or immunocompromised?
Azithromycin for 5 days
What test can be used to confirm compliance with gluten free diet in pt with celiac disease?
normal tTG IgA
tissue transglutaminase IgA antibodies
What is the potential complication associated with choledochal cyst?
risk of cholangiocarcinoma
What is the characteristic biopsy finding associated with celiac disease?
mucosal inflammation, short flattened villi, and crypt hyperplasia
What is the most common type of esophageal atresia?
eosphageal atresia with distal tracheoesophageal fistula
What is the initial treatment for intussusception?
Air contrast enema
diagnostic and therapeutic
What hepatitis infection is associated with concurrent Hepatitis D infection?
Hepatitis B
together can lead to severe liver disease
What is the best test for suspected C. difficile infection?
Stool for C. difficile toxin
What are 4 risk factors for jejunal atresia?
- low birth weight
- multiple births
- maternal tobacco use
- maternal cocaine use
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?
Herpes esophagitis
tx: acyclovir for 14-21 days
What hepatitis infection is associated with symmetrical polyarthralgia/ arthritis, macular/ urticarial rashes, or thrombocytopenia?
Hepatitis B
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?
Eosinophilic esophagitis
dx: circular rings, linear furros and whitish exudates with eosinophilic infiltration on esophageal biopsy
What is the diagnostic test of choice for biliary atresia?
intraoperative cholangiogram
How long is hepatitis A shed in the stool?
for 7 days (pts should would refrain from school for 7 days after onset of symptoms)
What lab finding is used to identify infected individuals who are at increased risk of transmitting Hepatitis B virus?
Hepatitis B e antigen (HBeAg)
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?
Acrodermatitis enteropathica
associated with Zinc deficiency
How do you treat eosinophilic esophagitis?
6 food elimination diet
cow’s milk, egg, wheat, soy, legumes, and shellfish
What is the treatment for Gilbert syndrome (jaundice after viral illness)?
none, reassurance
What medication should be avoided for at least 6 weeks after varicella immunization or active varicella and why?
Salicylates
can result in Reye syndrome
What is the most likely diagnosis for obese pt presenting with epigastric pain, intermittent RUQ pain, nausea, vomiting and intolerance of fatty foods?
Cholelithiasis (gallstone disease)
What is the screening test for celiac disease?
anti- ttG IgA and total IgA
with patient still consuming gluten
