Gastroenterology Practice Questions

Q: A 12 year old girl has history of recurrent bulky stools and abdominal pain since 3 year of age. She has moderate pallor and her weight and height are below the 3rd percentile. Which of the following is the most appropriate investigation to make a specific diagnosis?

Small intestinal biopsy. ***Small intestinal biopsy*** - This clinical presentation of **chronic bulky stools**, **growth retardation** (weight and height <3rd percentile), **pallor**, and abdominal pain since early childhood strongly suggests **celiac disease** - Small intestinal biopsy is the **gold standard for definitive diagnosis** of celiac disease, showing characteristic features: **villous atrophy**, **crypt hyperplasia**, and **increased intraepithelial lymphocytes** (Marsh classification) - While serological testing (anti-tTG IgA) is typically performed first in modern practice, among the given options, **biopsy provides the specific histological diagnosis** required - Biopsy allows differentiation from other causes of villous atrophy (tropical sprue, Giardia infection, cow's milk protein allergy) *Barium studies* - May show **non-specific findings** like dilated bowel loops, flocculation of barium, or jejunization of ileum in malabsorption - **Not diagnostic** for the specific underlying cause of malabsorption - Involves **radiation exposure** in a pediatric patient - Requires follow-up with more specific investigations for definitive diagnosis *24-hour fecal fat estimation* - Quantifies **steatorrhea** and confirms fat malabsorption (normal <7g/day in children) - Useful for **documenting the presence** of malabsorption but **does not identify the etiology** - Cannot differentiate between celiac disease, chronic pancreatitis, or other causes of malabsorption - Non-specific screening test rather than a diagnostic investigation *Urinary d-xylose test* - Assesses **small intestinal mucosal absorptive function** for carbohydrates - Abnormal in conditions affecting mucosa (celiac disease, tropical sprue, Crohn's disease) - **Not specific** for any particular disease entity - Less commonly used in modern practice due to availability of better diagnostic modalities

Q: Which of the following is not elevated in a child presenting with jaundice, icterus, pruritus and clay-colored stools?

Creatine kinase. ***Creatine kinase*** - **Creatine kinase (CK)** is a muscle enzyme found primarily in cardiac and skeletal muscle - CK elevation indicates **muscle injury** (rhabdomyolysis, myositis, myocardial infarction), NOT hepatobiliary disease - In **obstructive cholestasis** (jaundice, pruritus, clay stools), CK remains **normal** - **This is the correct answer** - CK is not elevated in cholestatic liver disease *Serum amylase* - May be **mildly elevated** if biliary obstruction causes **ampullary obstruction** or secondary pancreatic duct involvement - In pediatric biliary atresia or choledochal cyst, amylase is usually normal unless there is concurrent **pancreatitis** - Less specific than hepatobiliary markers but can be elevated in complicated cases *Glutamate dehydrogenase* - **GLDH** is a mitochondrial liver enzyme that reflects **hepatocellular necrosis** - In **prolonged cholestasis**, secondary hepatocellular damage occurs, leading to GLDH elevation - Elevated in biliary atresia with progressive liver damage *Lactate dehydrogenase* - **LDH** is a non-specific enzyme found in liver, RBCs, and many other tissues - Elevated in **hepatocellular injury**, hemolysis, and tissue damage - Can be elevated in cholestatic liver disease with hepatocyte damage or associated hemolysis

Q: A previously healthy infant presents with recurrent episodes of abdominal pain. The mother says that the child has been passing altered stool after episodes of pain. There is no history of projectile vomiting or significant active bleeding per rectum. Which of the following is the most likely diagnosis -

Intussusception. ***Intussusception*** - **Recurrent colicky abdominal pain** with the passage of **altered stools** (often described as "currant jelly" stools due to a mixture of blood and mucus) is highly characteristic of intussusception. - The classic triad includes intermittent abdominal pain, vomiting, and bloody stools, though not all features may be present initially or recognized by caregivers. - In early presentations, the blood in stools may be subtle and described as "altered" rather than frank bleeding. *Rectal Polyps* - Rectal polyps most commonly present with **painless, bright red rectal bleeding**, particularly during defecation. - They are less likely to cause recurrent, severe episodic **colicky abdominal pain** or the clinical pattern described. *Necrotizing Enterocolitis* - Predominantly affects **premature or low-birth-weight infants** in the neonatal period and is characterized by abdominal distension, feeding intolerance, and bloody stools. - The infant in the vignette is described as "previously healthy," which makes necrotizing enterocolitis highly unlikely. *Meckel's Diverticulum* - The most common presentation of Meckel's diverticulum is **painless, significant rectal bleeding** due to ectopic gastric mucosa causing ulceration. - While it can cause complications like obstruction or intussusception, the primary presentation with recurrent colicky pain and altered stools without prominent bleeding is less typical.

Q: A 10-month-old infant presents with acute intestinal obstruction. Contrast enema X-ray shows intussusception, likely cause is –

Peyer's patch hypertrophy. ***Peyer's patch hypertrophy*** - In infants, **Peyer's patch hypertrophy**, often due to viral infections like **rotavirus**, is the most common lead point for **idiopathic intussusception**. - These enlarged lymphoid tissues act as a fixed mass, allowing the proximal bowel to telescope into the distal bowel. *Mucosal polyp* - While polyps can cause intussusception, they are **rare in infants** and more commonly seen in older children or adults. - They tend to be a lead point for intussusception in contexts like **Peutz-Jeghers syndrome**, which is less likely in an otherwise healthy 10-month-old. *Duplication cyst* - **Duplication cysts** are a less common cause of intussusception compared to Peyer's patch hypertrophy in this age group. - They are usually congenital and present as a fixed mass, but are not the most likely cause in an acute, otherwise unexplained obstruction. *Meclde's diverticulum* - **Meckel's diverticulum** is a potential cause of intussusception, often by acting as a lead point or by causing an inversion. - However, it is less common than Peyer's patch hypertrophy as the underlying cause of intussusception in typically healthy infants.

Q: A 5-year-old child is having acute liver failure. Which one of the following criteria is not included in the King's College criteria?

Age < 11 years. ***Age < 11 years*** - Age is **NOT included** in the original King's College criteria for acute liver failure - King's College criteria are based on **biochemical parameters** (INR, bilirubin, pH, creatinine) and **clinical factors** (encephalopathy grade, jaundice-to-encephalopathy interval), not patient age - While **younger age may be a prognostic factor** in pediatric liver failure, it is not part of the formal King's College criteria used to predict poor prognosis or need for transplantation *INR > 6.5* - An **elevated INR > 6.5** (or PT > 100 seconds) is a **key criterion** in King's College criteria for non-paracetamol acute liver failure - Indicates severe **coagulopathy** and hepatic synthetic dysfunction - One of the most important predictors of poor outcome *Jaundice 7 days = subacute (worse prognosis, indicates need for transplant) - This temporal relationship is a **critical prognostic indicator** *Bilirubin > 300 mmol/L* - **Serum bilirubin > 300 μmol/L** (17.5 mg/dL) is explicitly included in King's College criteria for non-paracetamol ALF - Indicates severe **cholestasis** and hepatocellular dysfunction - Part of the multi-parameter assessment for transplant listing

Q: In infantile hypertrophic pyloric stenosis, which metabolic disturbance is typical?

Hypokalemic alkalosis. ***Hypokalemic alkalosis*** - Due to **pyloric obstruction**, infants experience persistent **vomiting of gastric contents**, leading to loss of **hydrochloric acid (HCl)** and subsequent **metabolic alkalosis**. - The classic presentation is **hypochloremic, hypokalemic metabolic alkalosis**. - The kidneys attempt to compensate by excreting **potassium** and retaining hydrogen ions, causing **hypokalemia** and paradoxical aciduria. - Dehydration and contraction alkalosis further perpetuate the metabolic derangement. *Hyperkalemic acidosis* - This is typically seen in conditions like **renal failure** or **diabetic ketoacidosis**, not infantile hypertrophic pyloric stenosis. - Would involve a gain of **acid** or loss of **bicarbonate**, along with elevated potassium levels. *Hyponatremic acidosis* - While hyponatremia can occur due to fluid loss and inappropriate antidiuretic hormone secretion, the primary acid-base disturbance is **alkalosis** due to gastric acid loss, not acidosis. - Acidosis would imply retention of acid or loss of bicarbonate, inconsistent with recurrent vomiting of gastric acid. *Hyperchloremic alkalosis* - In pyloric stenosis, there is a loss of **chloride** along with hydrogen ions, leading to **hypochloremia**, not hyperchloremia. - Therefore, the alkalosis is primarily **hypochloremic** and hypokalemic, not hyperchloremic.

Q: A 3-month-old with projectile vomiting and olive-shaped mass in abdomen is diagnosed with?

Pyloric stenosis. ***Pyloric stenosis*** - The classic triad of **projectile vomiting**, a palpable **olive-shaped mass** (hypertrophied pylorus), and age of presentation (2-8 weeks, though 3 months is still possible) are highly indicative of **pyloric stenosis**. - This condition involves thickening of the **pyloric muscle**, leading to gastric outlet obstruction and non-bilious emesis. *Hirschsprung disease* - This typically presents with **constipation**, **abdominal distension**, and failure to pass meconium, rather than projectile vomiting. - It results from the absence of **ganglion cells** in the distal colon, causing functional obstruction. *GERD* - While GERD can cause vomiting in infants, it is usually not **projectile** and is rarely associated with a palpable **olive-shaped mass**. - Infants with GERD typically respond to conservative measures like thickening feeds or acid suppressants. *Duodenal atresia* - This condition presents with **bilious vomiting** (as the obstruction is distal to the ampulla of Vater) usually within the first 24-48 hours of life. - An abdominal X-ray would show a **double bubble sign**, which is not mentioned in the presentation for pyloric stenosis.

Q: Most reliable indicator of some dehydration?

Thirst. Thirst - **Thirst** is a physiological response to even mild dehydration and is often the **earliest and most reliable indicator** that the body needs fluids [1], [2]. - It reflects an increase in **plasma osmolality**, signaling the brain to initiate fluid-seeking behaviors [1], [2]. *Lethargy* - **Lethargy** indicates more severe dehydration or other underlying conditions, making it a less specific and sensitive early indicator. - It suggests significant neurological impairment due to fluid and electrolyte imbalances, rather than just some dehydration. *Delayed skin pinch* - A **delayed skin pinch** (decreased skin turgor) is a sign of *significant* dehydration, indicating a substantial loss of interstitial fluid. - This sign is often less reliable in infants and the elderly due to differences in skin elasticity. *Sunken eyes* - **Sunken eyes** are a sign of more **moderate to severe dehydration**, reflecting significant fluid volume depletion, especially in infants. - It is not an early or subtle indicator of "some dehydration" but rather a late manifestation [3].

Q: A 6-week-old infant presents with projectile, non-bilious vomiting after feeds and poor weight gain. On examination, the infant appears eager to feed and has visible gastric peristalsis. What is the most likely diagnosis?

Pyloric stenosis. ***Pyloric stenosis*** - This condition is characterized by **projectile, non-bilious vomiting** in young infants, classically presenting between **2-8 weeks of age**. - **Visible gastric peristalsis** (peristaltic waves moving from left to right across the upper abdomen) is a pathognomonic sign. - The infant appears **eager to feed** after vomiting, distinguishing it from other causes where the infant is typically lethargic and refuses feeds. - An **olive-shaped mass** may be palpable in the right upper quadrant (hypertrophied pylorus). *Intussusception* - While it can manifest with vomiting and poor feeding, **intussusception** typically presents with sudden onset of **severe, crampy abdominal pain** (drawing legs up, inconsolable crying) and **currant jelly stools**. - The peak incidence is between **6-36 months**, making it less likely in a 6-week-old infant. - Vomiting may be bilious, and lethargy occurs later as a sign of shock. *Hirschsprung disease* - This condition primarily presents with **delayed passage of meconium** (beyond 48 hours) in neonates and chronic **constipation** with **abdominal distension**. - Vomiting, when present, is typically **bilious** due to intestinal obstruction. - Not associated with projectile, non-bilious vomiting or visible peristalsis. *Necrotizing enterocolitis* - **Necrotizing enterocolitis (NEC)** is predominantly a disease of **premature infants**, especially those with very low birth weight. - Key features include **bilious vomiting**, **bloody stools**, **abdominal distension**, and signs of **sepsis** (temperature instability, apnea, lethargy). - Very rare in healthy, full-term infants at this age.

Q: A 6-month-old infant presents with failure to thrive and chronic diarrhea. Examination reveals a distended abdomen. Which condition is most likely?

Cystic fibrosis. ***Cystic fibrosis*** - **Failure to thrive**, **chronic diarrhea** (due to pancreatic insufficiency leading to malabsorption), and **abdominal distension** are classic symptoms in infants with cystic fibrosis. - The thick, sticky mucus produced in CF obstructs pancreatic ducts, preventing the release of digestive enzymes. - CF is one of the most common causes of malabsorption presenting in early infancy. *Celiac disease* - While celiac disease can cause **failure to thrive** and **diarrhea**, it typically manifests later when gluten is introduced into the diet (around 6-12 months of age or later). - At 6 months, many infants may not yet have been exposed to gluten-containing foods. - A distended abdomen can occur, but celiac disease does not involve pancreatic insufficiency, which is the hallmark of CF-related malabsorption. *Lactose intolerance* - **Lactose intolerance** can cause diarrhea and abdominal distension, but primary lactose intolerance is extremely rare in infants. - Secondary lactose intolerance can occur but typically does not lead to severe **failure to thrive** or the chronic, severe malabsorption seen in this case. - This presentation is more consistent with pancreatic insufficiency rather than isolated lactase deficiency. *GERD* - **Gastroesophageal reflux disease (GERD)** commonly causes spitting up, vomiting, and irritability, which can indirectly lead to poor weight gain. - However, severe **chronic diarrhea** and marked abdominal distension are not typical primary symptoms of GERD. - GERD does not cause malabsorption or the gastrointestinal symptoms described in this case.

Question 1

A 12 year old girl has history of recurrent bulky stools and abdominal pain since 3 year of age. She has moderate pallor and her weight and height are below the 3rd percentile. Which of the following is the most appropriate investigation to make a specific diagnosis?

Accepted Answer

Small intestinal biopsy

Answer

Barium studies

Answer

24-hour fecal fat estimation

Answer

Urinary d-xylose test

Question 2

Which of the following is not elevated in a child presenting with jaundice, icterus, pruritus and clay-colored stools?

Accepted Answer

Creatine kinase

Answer

Serum amylase

Answer

Glutamate dehydrogenase

Answer

Lactate dehydrogenase

Question 3

A previously healthy infant presents with recurrent episodes of abdominal pain. The mother says that the child has been passing altered stool after episodes of pain. There is no history of projectile vomiting or significant active bleeding per rectum. Which of the following is the most likely diagnosis -

Accepted Answer

Intussusception

Answer

Rectal Polyps

Answer

Necrotizing Enterocolitis

Answer

Meckel's Diverticulum

Question 4

A 10-month-old infant presents with acute intestinal obstruction. Contrast enema X-ray shows intussusception, likely cause is –

Accepted Answer

Peyer's patch hypertrophy

Answer

Mucosal polyp

Answer

Duplication cyst

Answer

Meckel's diverticulum

Question 5

A 5-year-old child is having acute liver failure. Which one of the following criteria is not included in the King's College criteria?

Accepted Answer

Age < 11 years

Answer

INR > 6.5

Answer

Jaundice < 7 days before development of encephalopathy

Answer

Bilirubin > 300 mmol/L

Question 6

In infantile hypertrophic pyloric stenosis, which metabolic disturbance is typical?

Accepted Answer

Hypokalemic alkalosis

Answer

Hyperkalemic acidosis

Answer

Hyponatremic acidosis

Answer

Hyperchloremic alkalosis

Question 7

A 3-month-old with projectile vomiting and olive-shaped mass in abdomen is diagnosed with?

Accepted Answer

Pyloric stenosis

Answer

Hirschsprung disease

Answer

GERD

Answer

Duodenal atresia

Question 8

Most reliable indicator of some dehydration?

Accepted Answer

Thirst

Answer

Lethargy

Answer

Delayed skin pinch

Answer

Sunken eyes

Question 9

A 6-week-old infant presents with projectile, non-bilious vomiting after feeds and poor weight gain. On examination, the infant appears eager to feed and has visible gastric peristalsis. What is the most likely diagnosis?

Accepted Answer

Pyloric stenosis

Answer

Intussusception

Answer

Hirschsprung disease

Answer

Necrotizing enterocolitis

Question 10

A 6-month-old infant presents with failure to thrive and chronic diarrhea. Examination reveals a distended abdomen. Which condition is most likely?

Accepted Answer

Cystic fibrosis

Answer

Celiac disease

Answer

Lactose intolerance

Answer

GERD

Gastroenterology — MCQs

Gastroenterology — MCQs

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