Gastroenterology Practice Questions

Q: An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?

Wilson's disease. ***Wilson's disease*** - The combination of **intention tremor**, **poor scholastic performance** (indicating neurological involvement), **hepatomegaly**, and the **eye finding** (Kayser-Fleischer ring seen in the image) points strongly to Wilson's disease. The sister having similar complaints suggests an **autosomal recessive** inheritance pattern, consistent with Wilson's disease. - The image shows **Kayser-Fleischer ring**, a golden-brown ring at the corneal limbus due to **copper deposition in Descemet's membrane**, which is pathognomonic for Wilson's disease with neurological involvement. - Wilson's disease is caused by mutations in the **ATP7B gene**, leading to impaired copper excretion and accumulation in the liver, brain, and cornea. *Glutaric aciduria* - This is a rare **autosomal recessive metabolic disorder** that primarily affects the brain, leading to **dystonia** and **developmental delay**. - While it can cause neurological symptoms, it typically does not present with **hepatomegaly** or **Kayser-Fleischer rings** as prominent features. *Hepatitis A* - **Hepatitis A** is an acute viral infection of the liver, causing symptoms like fever, fatigue, nausea, vomiting, and **jaundice**. - However, it typically does not cause **intention tremor**, **poor scholastic performance**, or have a familial pattern suggesting an inherited neurological disorder. It also does not cause Kayser-Fleischer rings. *Huntington's chorea* - **Huntington's chorea** is an **autosomal dominant neurodegenerative disorder** characterized by **chorea**, psychiatric symptoms, and cognitive decline, typically manifesting in adulthood. - It does not present with **hepatomegaly** or **Kayser-Fleischer rings** at this age and is not associated with the constellation of liver and neurological symptoms described.

Q: Acquired megacolon in children is most commonly due to-

Bad bowel habit. ***Bad bowel habit*** - **Chronic constipation** due to poor bowel habits or stool withholding is a common cause of acquired megacolon in children. - This leads to **fecal impaction**, stretching of the rectal and sigmoid colon, and eventual loss of muscle tone. *Chagas disease* - Chagas disease, caused by *Trypanosoma cruzi*, is a significant cause of **acquired megacolon** but primarily in **endemic regions** of Latin America and is less common in children as an initial presentation of megacolon. - It leads to destruction of the **myenteric plexuses**, causing aperistalsis and dilation of the colon, which typically manifests in adulthood after a long latent period. *Psychological problems* - While psychological issues like **anxiety** or **stress** can contribute to altered bowel habits and constipation, they are usually not the **direct primary cause** of acquired megacolon without an underlying functional or behavioral component. - Psychological factors often **exacerbate** existing bowel dysfunction rather than solely initiating the anatomical changes leading to megacolon. *Hirschsprung's disease* - Hirschsprung's disease is a **congenital absence of ganglion cells** in the distal colon, leading to a functional obstruction and *proximal dilation*, which is a **congenital megacolon**, not an acquired one. - It typically presents in infancy with **failure to pass meconium** and chronic constipation from birth, differentiating it from acquired causes in older children.

Q: In a child, which of the following diseases is commonly misdiagnosed as appendicitis?

All of the options. ***All of the options*** - **Intussusception**, **lymphadenitis**, and **gastroenteritis** can all present with symptoms mimicking appendicitis in children, leading to potential misdiagnosis. - The similarities in abdominal pain, fever, and vomiting can make differentiation challenging without further diagnostic imaging or clinical evaluation. **Intussusception** - This condition involves the **telescoping of one segment of the intestine** into another, causing abdominal pain, vomiting, and sometimes a palpable mass. - While it can cause symptoms similar to appendicitis, classic signs like **currant-jelly stools** and an abdominal mass are often differentiating features. - Can present with colicky abdominal pain and guarding that mimics acute appendicitis. **Lymphadenitis (Mesenteric)** - **Mesenteric lymphadenitis** is an inflammation of the abdominal lymph nodes, often following a viral infection, causing generalized or right lower quadrant pain. - Its presentation can closely mimic appendicitis, and is one of the most common appendicitis mimics in children. - It typically lacks the progressive periumbilical pain migrating to the right lower quadrant that is typical of appendicitis, though this differentiation can be subtle. **Gastroenteritis** - **Gastroenteritis** presents with diffuse abdominal pain, vomiting, and diarrhea, which can sometimes be localized enough to suggest appendicitis, especially if pain is predominantly in the right lower quadrant. - However, the presence of significant diarrhea and more generalized abdominal discomfort often helps distinguish it from the focused pain of appendicitis. - In early presentations before diarrhea develops, differentiation can be particularly challenging.

Q: A baby with diarrhea presented with restlessness but is able to drink water. Skin turgor goes back in 2 seconds. The baby is communicating properly. What is the best management?

Plan B. ***Plan B*** - The baby shows **some signs of dehydration** (restlessness, able to drink, skin turgor goes back in 2 seconds), which indicates a need for **oral rehydration therapy (ORT)** according to WHO Plan B. - Plan B involves administering a specific amount of **Oral Rehydration Solution (ORS)** over 4 hours in a healthcare setting based on the child's weight and then reassessing the hydration status. - **Clinical features of some dehydration**: restlessness/irritability, sunken eyes, drinks eagerly/thirsty, skin pinch goes back slowly (within 2 seconds). *IV fluid therapy* - Intravenous fluid therapy is reserved for **severe dehydration (Plan C)**, characterized by lethargy or unconsciousness, inability to drink, very slow skin turgor (>2 seconds), and weak or absent pulse. - The baby is alert, able to drink, and communicating properly, so IV fluids are not indicated. *Plan A* - Plan A is for **no signs of dehydration**, where the goal is to prevent dehydration by continuing feeding, offering extra fluids, and providing education to caregivers. - The baby's restlessness and decreased skin turgor (2 seconds) indicate more than just no dehydration, requiring active rehydration with ORS. *Plan C* - Plan C is for **severe dehydration**, characterized by lethargy or unconsciousness, sunken eyes, inability to drink or drinking poorly, and skin pinch goes back very slowly (>2 seconds), necessitating urgent **intravenous fluid administration**. - The baby is restless (not lethargic), communicating properly, and able to drink, indicating this is not severe dehydration.

Q: Most common cause of significant lower GI bleeding (hematochezia) in children is

Meckel's diverticulum. ***Meckel's diverticulum*** - **Meckel's diverticulum** is the most common congenital malformation of the gastrointestinal tract and the most common cause of **painless rectal bleeding (hematochezia)** in children. - It contains **ectopic gastric or pancreatic tissue** which can cause ulceration and bleeding in adjacent healthy small bowel mucosa. *Rectal polyp* - While a cause of hematochezia in children, **rectal polyps** are typically less common than Meckel's diverticulum as the most frequent cause of significant bleeding. - They usually present with **painless, intermittent bright red blood** per rectum, often streaking the stool. *Acute gastritis* - **Acute gastritis** rarely causes significant hematochezia in children; it typically presents with **epigastric pain, nausea, and vomiting**, and if bleeding occurs, it is usually melena (black, tarry stools). - Bleeding from gastritis is often due to inflammation or ulceration in the upper GI tract, leading to digested blood in stool. *Necrotizing enterocolitis* - **Necrotizing enterocolitis** primarily affects **premature or low-birth-weight infants** and is a serious condition involving inflammation and necrosis of the bowel, often leading to bloody stools. - While it causes hematochezia, it is not the most common cause in the broader pediatric population and is typically seen in a specific demographic with other severe systemic symptoms.

Q: Exocrine pancreatic insufficiency is seen in:

Shwachman-Diamond syndrome. ***Shwachman-Diamond syndrome*** - This syndrome is characterized by **exocrine pancreatic insufficiency**, neutropenia, skeletal abnormalities, and growth retardation. - The pancreatic insufficiency leads to **malabsorption** and **steatorrhea** due to insufficient production of digestive enzymes. *Rubinstein-Taybi syndrome* - This syndrome is characterized by broad thumbs and great toes, intellectual disability, and distinctive facial features, but not primarily by exocrine pancreatic insufficiency. - It is caused by mutations in the **CREBBP** or **EP300** genes, which are not directly involved in pancreatic function. *Seckel syndrome* - This is a rare genetic disorder characterized by **primordial dwarfism**, microcephaly, and intellectual disability. - While it affects growth and development, it is not typically associated with exocrine pancreatic insufficiency. *Diamond-Blackfan syndrome* - This syndrome primarily involves **pure red cell aplasia**, leading to severe anemia. - Although it can have various congenital anomalies, **exocrine pancreatic insufficiency** is not a characteristic feature of this condition.

Q: Organic causes of constipation in infants include all of the following EXCEPT:

Infantile dyschezia. ***Infantile dyschezia*** - This is a **functional condition** where infants strain and cry before passing a soft stool, due to a lack of coordination between relaxing the pelvic floor and increasing intra-abdominal pressure. It is not an organic cause of constipation. - The stool consistency in infantile dyschezia is typically **soft**, differentiating it from true constipation. *Hirschsprung's disease* - This is an **organic cause of constipation** due to the absence of **ganglion cells** in the distal colon, leading to a functional obstruction. - Infants typically present with **failure to pass meconium** within the first 24-48 hours of life, distended abdomen, and forceful expulsion of stool upon rectal examination. *Cystic fibrosis* - This is an **organic cause of constipation** in infants due to the production of thick, sticky intestinal secretions, often leading to **meconium ileus** at birth. - Constipation can also result from **pancreatic insufficiency**, which impairs fat digestion and absorption, leading to hard, dry stools later in infancy. *Hypothyroidism* - This is an **organic cause of constipation** because thyroid hormones are essential for normal gastrointestinal motility. - Infants with hypothyroidism often present with **decreased bowel movements**, lethargy, poor feeding, and prolonged jaundice.

Q: Congenital pyloric stenosis causes: 1. Bilious vomiting 2. Non-bilious vomiting 3. Projectile vomiting 4. Non-projectile vomiting 5. Forceful vomiting

2, 3 & 5. ***2, 3 & 5*** - Congenital pyloric stenosis is characterized by **non-bilious vomiting** because the obstruction is proximal to the ampulla of Vater. - The vomiting is typically **projectile** and **forceful** due to the increased pressure in the stomach as it tries to overcome the narrowed pyloric channel. *2, 3, 4 & 5* - This option incorrectly includes **non-projectile vomiting (4)**; pyloric stenosis classically presents with projectile vomiting. - While non-bilious, projectile, and forceful vomiting are correct, the inclusion of non-projectile makes this option incorrect. *1, 3 & 4* - This option incorrectly includes **bilious vomiting (1)**; pyloric stenosis causes non-bilious vomiting as the obstruction is above the bile duct entry. - It also includes **non-projectile vomiting (4)** which is not typical for pyloric stenosis. *All are seen* - This is incorrect because **bilious vomiting** and **non-projectile vomiting** are not characteristic features of congenital pyloric stenosis. - The classic presentation is consistently non-bilious, forceful, and projectile.

Q: 6 year old drowsy child came in emergency with history of vomiting, loose motion for 3 days. On examination he had sunken eye, hypothermia, skin on pinching takes time to revert. Diagnosis

Severe dehydration. ***Severe dehydration*** - The combination of **drowsiness (altered mental status)**, **sunken eyes**, and **skin pinch going back very slowly (poor skin turgor)** are classic signs of severe dehydration according to WHO classification. - **Hypothermia** in a dehydrated child indicates profound physiological compromise, likely progressing toward hypovolemic shock. - Severe dehydration requires **2 or more signs**: lethargy/unconsciousness, sunken eyes, unable to drink or drinks poorly, skin pinch goes back very slowly (≥2 seconds). *Moderate dehydration* - This level presents with **restlessness or irritability** (not drowsiness), thirst, sunken eyes, and skin pinch going back slowly. - The child would be more alert and showing signs of irritability rather than the decreased consciousness seen here. *No dehydration* - This would present with a child who is **alert**, has normal eyes, drinks normally, and has normal skin elasticity with skin pinch going back immediately. - The symptoms described (vomiting, loose motions, drowsiness, sunken eyes) clearly indicate significant fluid deficit. *Some dehydration* - Some dehydration (mild) typically involves **restlessness**, increased thirst, slightly sunken eyes, and drinks eagerly. - It does not present with the severe signs of drowsiness, hypothermia, or markedly delayed skin turgor (≥2 seconds) as seen in this case.

Q: The most common congenital esophageal anomaly is which of the following?

Esophageal atresia. ***Esophageal atresia*** - This is the **most common congenital esophageal anomaly**, occurring in approximately 1 in 3,000-4,500 live births. - Most commonly presents as **esophageal atresia with distal tracheoesophageal fistula (TEF)** - the classic Type C variant (85-90% of cases). - Neonates present with excessive salivation, **inability to swallow**, choking with first feeding, and inability to pass a nasogastric tube beyond 10-12 cm. - Associated with **VACTERL** anomalies (Vertebral, Anorectal, Cardiac, Tracheoesophageal, Renal, Limb). *Congenital esophageal stenosis* - This is a **rare congenital narrowing** of the esophagus, far less common than esophageal atresia. - May be caused by tracheobronchial remnants, fibromuscular hypertrophy, or membranous diaphragm. - Typically presents later in infancy with **progressive dysphagia** when solid foods are introduced. *Congenital web* - A congenital web is a **thin mucosal membrane** that partially obstructs the esophageal lumen. - Much less common than esophageal atresia and usually presents with **intermittent dysphagia**. - May be asymptomatic until childhood or even adulthood depending on the degree of obstruction. *Esophageal duplication cyst* - A rare congenital anomaly consisting of a **fluid-filled cystic structure** adjacent to or within the esophageal wall. - Shares a common muscular wall with the esophagus and is lined by gastrointestinal epithelium. - May present with dysphagia, respiratory symptoms, or remain asymptomatic until discovered incidentally.

Question 1

An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?

Accepted Answer

Wilson's disease

Answer

Glutaric aciduria

Answer

Hepatitis A

Answer

Huntington's chorea

Question 2

Acquired megacolon in children is most commonly due to-

Accepted Answer

Bad bowel habit

Answer

Chagas disease

Answer

Psychological problems

Answer

Hirschsprung's disease

Question 3

In a child, which of the following diseases is commonly misdiagnosed as appendicitis?

Accepted Answer

All of the options

Answer

Intussusception

Answer

Lymphadenitis

Answer

Gastroenteritis

Question 4

A baby with diarrhea presented with restlessness but is able to drink water. Skin turgor goes back in 2 seconds. The baby is communicating properly. What is the best management?

Accepted Answer

Plan B

Answer

IV fluid therapy

Answer

Plan A

Answer

Plan C

Question 5

Most common cause of significant lower GI bleeding (hematochezia) in children is

Accepted Answer

Meckel's diverticulum

Answer

Rectal polyp

Answer

Acute gastritis

Answer

Necrotizing enterocolitis

Question 6

Exocrine pancreatic insufficiency is seen in:

Accepted Answer

Shwachman-Diamond syndrome

Answer

Rubinstein-Taybi syndrome

Answer

Seckel syndrome

Answer

Diamond-Blackfan syndrome

Question 7

Organic causes of constipation in infants include all of the following EXCEPT:

Accepted Answer

Infantile dyschezia

Answer

Hirschsprung's disease

Answer

Cystic fibrosis

Answer

Hypothyroidism

Question 8

Congenital pyloric stenosis causes: 1. Bilious vomiting 2. Non-bilious vomiting 3. Projectile vomiting 4. Non-projectile vomiting 5. Forceful vomiting

Accepted Answer

2, 3 & 5

Answer

2, 3, 4 & 5

Answer

1, 3 & 4

Answer

All are seen

Question 9

6 year old drowsy child came in emergency with history of vomiting, loose motion for 3 days. On examination he had sunken eye, hypothermia, skin on pinching takes time to revert. Diagnosis

Accepted Answer

Severe dehydration

Answer

Moderate dehydration

Answer

No dehydration

Answer

Some dehydration

Question 10

The most common congenital esophageal anomaly is which of the following?

Accepted Answer

Esophageal atresia

Answer

Congenital esophageal stenosis

Answer

Congenital web

Answer

Esophageal duplication cyst

Gastroenterology — MCQs

Gastroenterology — MCQs

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