Diagnosis
Pathology
Cases
Treatment
Random
100
What initial lab testing can be use to confirm a diagnosis of celiac disease?
IgA tissue transglutaminase antibody
100
True or false: noncaseating granulomas are seen in both Crohn disease and ulcerative colitis?
False, only in Crohn disease
100
A 4-month-old infant presents with frequent spitting up, irritability, and blood in the stool after being introduced to formula. The symptoms worsen despite changes in feeding routines. The infant's mother reports that the baby has developed a rash on the cheeks and seems uncomfortable after feedings.
What is the most likely diagnosis?
Cow's milk protein allergy
100
What is the treatment for Hirshprung disease?
Surgery to remove the ganglionic portion of the colon
100
This condition, characterized by recurrent abdominal pain, bloating, and changes in bowel habits, is the most common functional GI disorder in children and is diagnosed after excluding other causes.
Irritable bowel syndrome
200
What gene is defective in cystic fibrosis?
CFTR gene
200
What defect in development leads to Hirshprung disease?
Defective caudal migration of parasympathetic neuroblasts from the neural crest to the distal colon
200
A previously healthy 4 month old male presents to the EC due to intermittent vomiting, bloody stool and intermittent bouts of fussiness every 15-30 minutes.
What is the next best step for diagnosis? What is the most likely diagnosis?
- Abdominal ultrasound
- Intussusception
200
What combination of medications is used to treat H. pylori
PPI + clarithromycin + amoxicillin/metronidazole
200
What is the most frequent viral pathogen that causes acute diarrhea in young children
a. Giardia organisms
b. Shigella organisms
c. Rotavirus
d. Salmonella organisms
Rotavirus
300
What autosomal recessive disorder is characterized by a defect in hepatic excretion of bilirubin, leading to a mild chronic jaundice due to conjugated hyperbilirubinemia, often with a distinctive dark liver?
Dubin-Johnson syndrome
300
What bowel condition presents with crypt abscess on pathology?
Ulcerative colitis
300
13 year old female with a history of ODD and constipation presenting to clinic with intermittent leakage of stool into underwear for years. She states that she does not feel the leakage. She states she doesn't know how often she stools.
What is the most likely diagnosis? Next best step in management?
Most likely diagnosis: constipation
Next best step: Miralax clean out followed by daily miralax
300
What is the treatment for necrotizing enterocolitis?
- IV broad-spectrum antibiotics: ampicillin, gentamicin and metronidazole for anaerobic coverage
- Supportive care: stope enteral feeding, gut decompression with nasogastric tube
300
This condition is characterized by the presence of abnormal amounts of non-caseating granulomas in the gastrointestinal tract, particularly in the ileum, and can present in childhood with symptoms including diarrhea, abdominal pain, and weight loss, often mimicking infectious gastroenteritis.
Crohn's disease
400
What is the name of the diagnostic test used to confirm H. pylori during an endoscopy
CLO test
400
Where in the GI tract is Crohn's disease most commonly seen?
Ileum and colon
400
A 9-month-old infant presents with projectile vomiting, poor weight gain, and irritability after every feeding. The vomiting is non-bilious and occurs within an hour of feeding.
What acid/base abnormality will most likely be seen on testing?
Hypochloremic, hypokalemic metabolic alkalosis
400
What 4 classes of medication is used to induce remission in Crohn disease?
1. Anti-inflammatory drugs (aminosalicylates),
2. Corticosteroids,
3. Immunosuppressive drugs (azathioprine, methotrexate)
4. Biologic therapies (TNF inhibitors, interleukin inhibitors)
400
This rare condition in infants is caused by a genetic defect, leading to both hepatic and pulmonary manifestations, with liver disease often presenting as neonatal cholestasis and cirrhosis in childhood.
Alpha-1-antitrypsin deficiency
500
This rare liver disorder, often presenting with jaundice in the neonatal period and characterized by the absence of bile ducts in the liver, is treated primarily with liver transplantation once progressive liver failure occurs, as no medical therapy is effective in reversing the condition.
Biliary atresia
500
A 5-year-old girl presents with a 3-month history of chronic diarrhea, bloating, and fatigue. Her mother reports that the child also has delayed growth and irritability. Laboratory tests reveal a mildly elevated transaminase level. The patient has no history of significant infections, and her immunization history is up to date. Stool tests are negative for infections, and a dietary history reveals frequent consumption of wheat-based products. Her family history is notable for autoimmune conditions, but there is no history of gastrointestinal cancer.
What will most likely be seen on a biopsy of the duodenum?
Villous atrophy
- Celiac disease
500
A 12 year old male presents to the EC with a history of seizures presents to the EC with abdominal pain, "bloating", and tremors. On examination you notice jaundice and discoloration in the eyes.
What type of studies should be ordered for further work up?
Copper metabolism studies:
- Serum ceruloplasmin
- 24- hour urine copper excretion
- Serum copper
Increased 24 hour urine copper and decreased serum ceruloplamin will confirm diagnosis
500
This chronic condition, often diagnosed in early childhood, involves autoimmune destruction of the bile ducts, leading to cholestasis and liver cirrhosis. Treatment includes ursodeoxycholic acid to improve bile flow, along with vitamin Ksupplementation for clotting issues, and liver transplantation for those with advanced liver disease.
Primary biliary cholangitis
500
One of the hallmark signs of this condition if untreated is a distinctive musty odor in the breath, skin, and urine
Phenylketonuria