Gastroenterology Flashcards
(55 cards)
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
