Gastroenterology Practice Questions

Q: Which of the following statements is NOT true regarding Hirschsprung disease?

It is an autosomal dominant condition.. **Explanation:** **Hirschsprung Disease (Congenital Aganglionic Megacolon)** is characterized by the failure of neural crest cells to migrate caudally during embryonic development (weeks 5–12). 1. **Why Option A is the correct answer (Statement is NOT true):** Hirschsprung disease is **not** a simple autosomal dominant condition. While it has a genetic component (most commonly mutations in the **RET proto-oncogene**), its inheritance is complex, often described as **multifactorial** or showing **variable penetrance**. It occurs more frequently in males (4:1 ratio), though females often have longer segments of aganglionosis. 2. **Analysis of other options:** * **Options B & C:** These are **true**. The hallmark of the disease is the absence of ganglion cells in both the **Auerbach (myenteric)** and **Meissner (submucosal)** plexuses. This leads to a lack of relaxation in the affected segment, resulting in functional obstruction. * **Option D:** This is **true**. A **Full-thickness rectal biopsy** (or suction biopsy) is the **gold standard** for diagnosis. Histopathology will show an absence of ganglion cells and the presence of hypertrophied nerve bundles. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Presentation:** Delayed passage of meconium (>48 hours), abdominal distension, and bilious vomiting. * **Physical Exam:** "Blast sign" or "Squirt sign" (explosive release of stool/gas on digital rectal exam). * **Radiology:** Barium enema shows a "transition zone" between the narrow aganglionic segment and the dilated proximal colon. * **Associations:** Strongly associated with **Down Syndrome** (Trisomy 21). * **Gold Standard Diagnosis:** Rectal Biopsy (showing increased Acetylcholinesterase staining).

Q: A neurologically impaired 11-month-old baby is admitted with a history of regurgitation, aspiration, and frequent respiratory infections, leading to a provisional diagnosis of GERD. The mother reports episodes of sudden back arching, with head and leg splaying and stiffness, described as opisthotonic posture and spasmodic torsional dystonia, lasting for 2 minutes. Electrolyte and biochemistry panels are normal. Which of the following is the most probable diagnosis?

Sandifer syndrome. **Explanation:** **Sandifer Syndrome** is a paroxysmal movement disorder associated with **Gastroesophageal Reflux Disease (GERD)**, most commonly seen in infants and children with neurological impairment (e.g., cerebral palsy). The characteristic presentation involves **spasmodic torsional dystonia** and **opisthotonic posturing** (back arching, head tilting, and limb splaying). These movements are a physiological response to the pain of acid reflux; the child instinctively adopts these postures to clear the esophagus of acid and alleviate discomfort. The episodes are typically post-prandial and are often misdiagnosed as seizures. **Why other options are incorrect:** * **Infantile Spasms (West Syndrome):** Characterized by brief, symmetric axial muscle contractions (jackknife seizures) and a specific EEG pattern called hypsarrhythmia. It is not triggered by feeding or associated with reflux. * **Epilepsy:** While the posturing mimics seizures, the normal biochemistry and the clear association with regurgitation/aspiration point toward a gastrointestinal trigger rather than primary cortical discharge. * **Paroxysmal Dystonia:** This is a broad category of movement disorders. While Sandifer syndrome is a form of dystonia, it is specifically "secondary" to GERD. Given the clinical context of respiratory infections and regurgitation, Sandifer syndrome is the most specific diagnosis. **High-Yield Clinical Pearls for NEET-PG:** * **Triad of Sandifer Syndrome:** GERD, Hiatal hernia (often present), and abnormal posturing. * **Diagnosis:** Primarily clinical; confirmed by pH monitoring (correlating reflux episodes with posturing) or improvement with anti-reflux therapy (PPIs). * **Key Differentiator:** Unlike seizures, Sandifer episodes are associated with feeding and do not have a post-ictal phase.

Q: Which of the following is true regarding Hirschsprung's disease?

There is an absence of ganglia in the involved segment.. **Explanation:** Hirschsprung’s disease (Congenital Aganglionic Megacolon) is a developmental disorder characterized by the **failure of neural crest cells to migrate** cranio-caudally during the 5th to 12th week of gestation. **Why Option B is correct:** The hallmark of the disease is the **absence of ganglion cells** (Auerbach’s and Meissner’s plexuses) in the distal bowel. This aganglionosis leads to a failure of relaxation in the affected segment, causing a functional intestinal obstruction. **Analysis of incorrect options:** * **Option A:** While most cases are diagnosed in the neonatal period (failure to pass meconium within 48 hours), Hirschsprung’s can occasionally present in **adolescents or adults** who have short-segment involvement and a history of chronic refractory constipation. * **Option C:** The involved (aganglionic) segment is actually **narrowed and contracted**. The **dilated** portion is the proximal, normal colon, which undergoes compensatory hypertrophy as it attempts to push stool past the distal obstruction. **High-Yield Clinical Pearls for NEET-PG:** * **Gold Standard Diagnosis:** Rectal Suction Biopsy (shows absence of ganglion cells and presence of hypertrophied nerve bundles). * **Histochemistry:** Increased **Acetylcholinesterase (AChE)** staining is a classic diagnostic marker. * **Radiology:** Barium enema shows a "transition zone" between the narrow distal segment and the dilated proximal colon. * **Associated Conditions:** Strongly associated with **Down Syndrome** (Trisomy 21) and mutations in the **RET proto-oncogene**. * **Physical Exam:** "Blast sign" or "Squirt sign" (explosive release of stool/gas upon digital rectal examination).

Q: A 2-month-old baby presents with a history of jaundice, turmeric-colored urine, and pale stools since birth. Examination reveals a liver span of 10 cm. What is the most specific investigation for establishing the diagnosis?

Liver biopsy. ### Explanation The clinical presentation of jaundice, dark (turmeric-colored) urine, and pale (acholic) stools in a 2-month-old infant is a classic triad for **Biliary Atresia (BA)**. The enlarged liver (10 cm) further supports a diagnosis of neonatal cholestasis. **1. Why Liver Biopsy is the Correct Answer:** While several tests assist in the workup, **Liver Biopsy** is considered the **most specific non-surgical investigation** (accuracy >90%). It demonstrates characteristic histopathological features such as bile duct proliferation, portal tract edema, and fibrosis. It is the "gold standard" for differentiating Biliary Atresia from other causes of neonatal jaundice, like Neonatal Hepatitis, before proceeding to surgery. **2. Why Other Options are Incorrect:** * **Liver Function Tests (LFTs):** These confirm conjugated hyperbilirubinemia but cannot differentiate between the various causes of cholestasis (e.g., metabolic vs. obstructive). * **Ultrasound Abdomen:** This is often the initial screening tool. While it may show the "Triangular Cord Sign," it lacks the specificity of a biopsy and can often appear normal in early stages. * **Peroperative Cholangiogram (POC):** This is the **overall gold standard** for diagnosis. However, it is an invasive surgical procedure. In the context of "investigations" to establish a diagnosis before committing to major surgery, a liver biopsy is the preferred specific diagnostic step. **Clinical Pearls for NEET-PG:** * **Best Initial Test:** Ultrasound (to rule out choledochal cysts). * **Most Sensitive/Specific Non-invasive Test:** Liver Biopsy. * **Gold Standard:** Peroperative Cholangiogram. * **HIDA Scan:** High negative predictive value; if tracer reaches the intestine, BA is ruled out. * **Management:** The surgery of choice is **Kasai Portoenterostomy**, which is most successful if performed before **60 days of life**.

Q: A child is brought with bleeding nostrils. There is a history of viral infection 3 months back and treatment with aspirin. What is the most likely diagnosis?

Reye's Syndrome. **Explanation:** The clinical scenario describes a classic presentation of **Reye’s Syndrome**. The key diagnostic triggers are a **preceding viral illness** (typically Influenza or Varicella) followed by the administration of **Aspirin (salicylates)**. Reye’s Syndrome is characterized by acute non-inflammatory encephalopathy and fatty degeneration of the liver. The underlying pathophysiology involves **mitochondrial dysfunction**, leading to impaired fatty acid oxidation. This results in severe hepatic dysfunction, causing a decrease in the synthesis of clotting factors and subsequent bleeding manifestations, such as epistaxis (bleeding nostrils), hematemesis, or ecchymosis. **Analysis of Incorrect Options:** * **ITP (A):** While ITP presents with mucosal bleeding and often follows a viral infection, it is not specifically associated with aspirin use. The hallmark is isolated thrombocytopenia, whereas Reye’s involves multi-organ (liver/brain) dysfunction. * **Epistaxis (C):** This is a clinical sign (symptom), not a systemic diagnosis. Given the specific history of aspirin and viral illness, a systemic cause must be prioritized. * **DIC (D):** DIC involves widespread activation of coagulation and is usually seen in sepsis or shock. While it causes bleeding, the specific "Aspirin + Viral illness" triad is pathognomonic for Reye’s. **NEET-PG High-Yield Pearls:** * **Liver Biopsy Finding:** Microvesicular steatosis (fatty change) without significant inflammation. * **Biochemical Markers:** Elevated serum ammonia, prolonged Prothrombin Time (PT), and elevated AST/ALT (3x normal). Bilirubin is usually normal or only slightly elevated. * **Electron Microscopy:** Shows "swollen, amoeboid" mitochondria. * **Contraindication:** Aspirin is contraindicated in children with fever/viral illness; **Acetaminophen** is the preferred antipyretic.

Q: A child complains of episodes of abdominal distension, bloating, and diarrhea upon intake of milk and milk products. Which of the following can be given to that child?

Yogurt. ### Explanation The clinical presentation of abdominal distension, bloating, and diarrhea following milk consumption is characteristic of **Lactose Intolerance**. This condition results from a deficiency of the enzyme **lactase** (brush border disaccharidase), leading to the malabsorption of lactose, which is then fermented by colonic bacteria into organic acids and gas. **Why Yogurt is the Correct Answer:** Yogurt is well-tolerated by individuals with lactose intolerance due to two primary reasons: 1. **Bacterial Lactase:** The starter cultures used in yogurt (e.g., *Lactobacillus bulgaricus* and *Streptococcus thermophilus*) produce endogenous lactase, which helps digest lactose within the intestine. 2. **Semi-solid Consistency:** The thicker consistency of yogurt slows gastric emptying, allowing the limited amount of native intestinal lactase more time to act on the remaining lactose. **Why Other Options are Incorrect:** * **Ice Cream (A):** Contains high amounts of lactose and fat, which can exacerbate osmotic diarrhea and bloating. * **Skimmed Milk (B):** Removing fat does not remove lactose. In fact, skimmed milk often has a slightly higher lactose concentration by volume than whole milk. * **Cold Milk (C):** Temperature does not alter lactose content. Cold milk may actually increase intestinal motility in some individuals, worsening symptoms. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnosis:** The **Hydrogen Breath Test** is the non-invasive gold standard. A stool acidity test (pH < 5.5) and the presence of reducing sugars are common bedside findings. * **Secondary Lactose Intolerance:** Frequently occurs post-gastroenteritis (e.g., Rotavirus) due to the sloughing of the intestinal villi tips where lactase is located. * **Management:** Encourage fermented dairy (yogurt, aged cheese) and exogenous lactase enzyme substitutes. Avoid complete dairy restriction to prevent Vitamin D and Calcium deficiency.

Q: What is the recommended dose of zinc for a 9-month-old infant experiencing acute diarrhea?

20 mg daily. **Explanation:** The management of acute diarrhea in children involves Oral Rehydration Therapy (ORT) and **Zinc supplementation**. Zinc is crucial as it reduces the duration and severity of the diarrheal episode and prevents subsequent episodes for the following 2–3 months by improving intestinal mucosal integrity and local immunity. **Why Option C is Correct:** According to the **WHO and UNICEF guidelines** (also followed by the Integrated Management of Neonatal and Childhood Illness - IMNCI), the dosage of elemental zinc is age-dependent: * **Infants < 6 months:** 10 mg elemental zinc once daily for 14 days. * **Children ≥ 6 months:** **20 mg elemental zinc** once daily for 14 days. Since the infant in the question is 9 months old, the correct dose is 20 mg. **Analysis of Incorrect Options:** * **Option A (5 mg):** This is sub-therapeutic and is not a standard recommendation for any pediatric age group in acute diarrhea. * **Option B (10 mg):** This is the correct dose for infants **younger than 6 months**. * **Option D (25 mg):** This exceeds the standard recommended dose for pediatric diarrheal management. **High-Yield Clinical Pearls for NEET-PG:** * **Duration:** Zinc must be continued for **14 days**, even if the diarrhea stops earlier, to replenish body stores. * **Mechanism:** Zinc acts as an immunomodulator and a cofactor for over 300 enzymes; it specifically inhibits the cAMP-induced chloride secretion in the gut. * **Formulations:** Usually administered as Zinc Sulfate, Gluconate, or Acetate. * **ORS + Zinc:** This combination is considered the "Gold Standard" for reducing under-5 mortality due to diarrheal diseases.

Q: Pseudopancreatic cyst in a child is commonly due to which of the following?

Traumatic pancreatitis. **Explanation:** **1. Why Traumatic Pancreatitis is Correct:** In the pediatric population, **blunt abdominal trauma** (e.g., bicycle handlebar injuries, motor vehicle accidents, or child abuse) is the most common cause of acute pancreatitis and subsequent pseudocyst formation. A pseudocyst is a collection of pancreatic juice enclosed by a wall of inflammatory/fibrous tissue (lacking an epithelial lining, hence "pseudo"). In children, the pancreas is relatively fixed against the vertebral column, making it susceptible to compression and ductal injury during blunt impact. **2. Analysis of Incorrect Options:** * **Annular Pancreas (A):** This is a congenital anomaly where pancreatic tissue encircles the duodenum. While it can cause duodenal obstruction or chronic pancreatitis, it is a rare cause of pseudocysts compared to trauma. * **Drug-induced Pancreatitis (B):** While certain drugs (e.g., Valproic acid, L-asparaginase, Steroids) cause pancreatitis in children, they rarely lead to the localized ductal disruption required to form a large pseudocyst. * **Choledochal Cyst (D):** This is a congenital dilation of the biliary tree. While it may present with a palpable mass and jaundice, it is anatomically distinct from a pancreatic pseudocyst. **3. NEET-PG High-Yield Pearls:** * **Most common cause of Acute Pancreatitis in children:** Trauma (specifically "Handlebar injury"). * **Definition:** A pseudocyst takes approximately **4–6 weeks** to form following the initial insult. * **Diagnosis:** Ultrasound is the initial screening tool; **CECT** is the gold standard for characterizing the cyst and its relationship to surrounding structures. * **Management:** Many pediatric pseudocysts resolve spontaneously. Intervention (Internal drainage like Cystogastrostomy) is indicated if the cyst is symptomatic, enlarging, or infected.

Question 1

Which of the following statements is NOT true regarding Hirschsprung disease?

Accepted Answer

It is an autosomal dominant condition.

Answer

There is an absence of ganglionic cells in the myenteric plexus.

Answer

There is an absence of ganglionic cells in the submucosal plexus.

Answer

Rectal biopsy is diagnostic.

Question 2

A neurologically impaired 11-month-old baby is admitted with a history of regurgitation, aspiration, and frequent respiratory infections, leading to a provisional diagnosis of GERD. The mother reports episodes of sudden back arching, with head and leg splaying and stiffness, described as opisthotonic posture and spasmodic torsional dystonia, lasting for 2 minutes. Electrolyte and biochemistry panels are normal. Which of the following is the most probable diagnosis?

Accepted Answer

Sandifer syndrome

Answer

Infantile spasm

Answer

Epilepsy

Answer

Paroxysmal dystonia

Question 3

Which of the following is true regarding Hirschsprung's disease?

Accepted Answer

There is an absence of ganglia in the involved segment.

Answer

It is seen in infants and children only.

Answer

The involved segment is the dilated colon.

Answer

All of the above.

Question 4

An 8-year-old boy presents with a history of direct abdominal trauma followed by a 24-hour period of fever, mid-epigastric pain radiating to the back, and persistent vomiting. Physical examination reveals abdominal tenderness with decreased bowel sounds, particularly in the mid-epigastric region with guarding. Which of the following tests is most likely to confirm the diagnosis?

Accepted Answer

Serum amylase levels

Answer

CBC with differential and platelets

Answer

Serum total and direct bilirubin levels

Answer

Abdominal radiograph

Question 5

A 2-month-old baby presents with a history of jaundice, turmeric-colored urine, and pale stools since birth. Examination reveals a liver span of 10 cm. What is the most specific investigation for establishing the diagnosis?

Accepted Answer

Liver biopsy

Answer

Liver function tests

Answer

Ultrasound abdomen

Answer

Peroperative cholangiogram

Question 6

A patient presents with acute abdominal pain, blood and mucus in the stool, and a palpable abdominal mass. What is the most likely diagnosis?

Accepted Answer

Intussusception

Answer

Meckel's diverticulum

Answer

Volvulus

Answer

Hypertrophic pyloric stenosis

Question 7

A child is brought with bleeding nostrils. There is a history of viral infection 3 months back and treatment with aspirin. What is the most likely diagnosis?

Accepted Answer

Reye's Syndrome

Answer

Idiopathic Thrombocytopenic Purpura (ITP)

Answer

Epistaxis

Answer

Disseminated Intravascular Coagulation (DIC)

Question 8

A child complains of episodes of abdominal distension, bloating, and diarrhea upon intake of milk and milk products. Which of the following can be given to that child?

Accepted Answer

Yogurt

Answer

Ice cream

Answer

Skimmed milk

Answer

Cold milk

Question 9

What is the recommended dose of zinc for a 9-month-old infant experiencing acute diarrhea?

Accepted Answer

20 mg daily

Answer

5 mg daily

Answer

10 mg daily

Answer

25 mg daily

Question 10

Pseudopancreatic cyst in a child is commonly due to which of the following?

Accepted Answer

Traumatic pancreatitis

Answer

Annular pancreatitis

Answer

Drug-induced pancreatitis

Answer

Choledochal cyst

Gastroenterology — MCQs

Gastroenterology — MCQs

On this page

Practice by Chapter

Want unlimited practice?