Hirschsprung's Disease — MCQs
What is the investigation of choice for diagnosing Hirschsprung disease?
Hirschsprung disease has association with which of the following conditions?
Most common genetic mutation associated with Hirschsprung's disease is:
A newborn baby presented with a failure to pass meconium in the immediate postnatal period. The pediatrician also notices visible yet ineffective peristalsis, and abdominal distention. A radiological contrast enema demonstrated a narrow conical segment and a dilated proximal bowel. A diagnosis of Hirschsprung disease was made. Which of the following is a cause of the condition in the patient?
What are the primary criteria for considering operative treatment in Hirschsprung's disease?
Which of the following statements about Hirschsprung disease is incorrect?
Biopsy in Hirschsprung's disease can be taken from which level?
Congenital megacolon is confirmed by:
A male infant presented with distension of abdomen shortly after birth with delayed passage of meconium. Subsequently a full-thickness biopsy of the rectum was performed. The rectal biopsy is likely to show:
Definitive diagnosis of Hirschsprung's disease is done by?
Hirschsprung's Disease Indian Medical PG Practice Questions and MCQs
Question 1: What is the investigation of choice for diagnosing Hirschsprung disease?
- A. Biopsy (Correct Answer)
- B. Manometry
- C. Colonoscopy
- D. Barium enema
Explanation: ***Biopsy*** - **Rectal suction biopsy** is the **gold standard and most definitive diagnostic test** for Hirschsprung disease. - It demonstrates the **absence of ganglion cells** in the submucosal (Meissner's) and myenteric (Auerbach's) plexuses, establishing the definitive diagnosis of **aganglionosis** [1]. - This is the investigation of choice because it provides histological confirmation [1]. *Manometry* - **Anorectal manometry** is a useful screening tool that can show absence of the **rectoanal inhibitory reflex** due to absent ganglion cells. - However, it is not definitive, especially in neonates, and requires confirmation by biopsy. - It cannot replace histological diagnosis. *Colonoscopy* - **Colonoscopy** is not used for diagnosing Hirschsprung disease as it does not visualize ganglion cells or provide definitive diagnosis of aganglionosis. - It may be used to rule out other causes of constipation or manage complications, but not for initial diagnosis. *Barium enema* - **Barium enema** can suggest Hirschsprung disease by showing a **transition zone** (narrow aganglionic segment with dilated proximal colon). - While highly suggestive, it is not definitive and biopsy is still required for confirmation. - Useful for assessing the extent of disease preoperatively. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, p. 759.
Question 2: Hirschsprung disease has association with which of the following conditions?
- A. MEN 2B (Correct Answer)
- B. Von Hippel Lindau
- C. MEN 2A
- D. MEN I
Explanation: ***MEN 2B*** - **Hirschsprung disease** is associated with **Multiple Endocrine Neoplasia type 2B (MEN 2B)** due to mutations in the **RET proto-oncogene** [1]. - These patients often present with **pheochromocytoma**, **medullary thyroid carcinoma**, and characteristic **mucosal neuromas** and a **marfanoid habitus**. *Von Hippel-Lindau* - This syndrome is associated with the development of **hemangioblastomas**, **pheochromocytomas**, and **renal cell carcinoma**. - It is caused by mutations in the **VHL tumor suppressor gene** and does not have a direct association with Hirschsprung disease. *MEN 2A* - **MEN 2A** is characterized by **medullary thyroid carcinoma**, **pheochromocytoma**, and **primary hyperparathyroidism**. - While also caused by **RET proto-oncogene** mutations, it typically does not present with Hirschsprung disease [1]. *MEN 1* - **Multiple Endocrine Neoplasia type 1 (MEN 1)** is associated with **tumors of the parathyroid, pituitary, and pancreas** ("3 Ps"). - This syndrome is due to mutations in the **MEN1 tumor suppressor gene** and has no known association with Hirschsprung disease.
Question 3: Most common genetic mutation associated with Hirschsprung's disease is:
- A. RET gene (Correct Answer)
- B. ATP 7A
- C. EDNRB gene
- D. EDN3 gene
Explanation: ***RET gene*** - Mutations in the **RET proto-oncogene** are the most common genetic cause of Hirschsprung's disease, accounting for up to 50% of familial cases and 15-20% of sporadic cases. - The RET gene codes for a **receptor tyrosine kinase** involved in the development of the enteric nervous system. *EDN3 gene* - The **EDN3 gene** (endothelin 3) plays a role in Hirschsprung's disease; however, mutations in this gene are much less common than those in the RET gene. - EDN3 mutations are typically associated with a smaller subset of Hirschsprung's cases. *ATP 7A* - The **ATP7A gene** is associated with **Menkes disease**, a disorder of copper transport, not Hirschsprung's disease. - This gene codes for a copper-transporting ATPase. *EDNRB gene* - The **EDNRB gene** (endothelin receptor type B) is involved in some cases of Hirschsprung's disease, but mutations in this gene are less frequent than RET mutations. - It works in conjunction with EDN3 in neural crest cell development.
Question 4: A newborn baby presented with a failure to pass meconium in the immediate postnatal period. The pediatrician also notices visible yet ineffective peristalsis, and abdominal distention. A radiological contrast enema demonstrated a narrow conical segment and a dilated proximal bowel. A diagnosis of Hirschsprung disease was made. Which of the following is a cause of the condition in the patient?
- A. Persistence of embryonic structures in the bowel wall
- B. Congenital obstruction due to external factors
- C. Failure of migration of neural crest cells (Correct Answer)
- D. Abnormal peristalsis due to neural dysfunction
Explanation: ***Failure of migration of neural crest cells*** - Hirschsprung disease is characterized by the **absence of ganglion cells** (specifically **Auerbach's and Meissner's plexuses**) in the distal bowel. - This aganglionosis results from the **failure of neural crest cells to migrate** completely into the intestinal wall during embryonic development. *Persistence of embryonic structures in the bowel wall* - This mechanism is associated with conditions like **Meckel's diverticulum**, where a remnant of the **vitelline duct** persists. - It does not explain the absence of ganglion cells or the functional obstruction seen in Hirschsprung disease. *Congenital obstruction due to external factors* - This would involve conditions such as an **annular pancreas**, **bands**, or **malrotation with volvulus**, creating a physical barrier. - Hirschsprung disease is a **functional obstruction** due to neuromuscular dysfunction, not an external compression or blockage. *Abnormal peristalsis due to neural dysfunction* - While there is abnormal peristalsis, the underlying cause is not just **"neural dysfunction"** in a general sense, but specifically the **absence of entire ganglion cell plexuses** within the bowel wall. - This option is too broad and doesn't pinpoint the precise developmental defect.
Question 5: What are the primary criteria for considering operative treatment in Hirschsprung's disease?
- A. Has failed to respond to conservative treatment (Correct Answer)
- B. Is 2 years of age
- C. Has no distension of abdomen
- D. Is at least 8 kg in weight and thriving
Explanation: ***Has failed to respond to conservative treatment*** - Children with **Hirschsprung's disease** who do not respond to initial **conservative management**, such as bowel irrigation and laxatives, require surgical intervention to remove the aganglionic segment. - **Persistent symptoms** like severe constipation, abdominal distension, and failure to thrive despite medical therapy indicate the need for operative treatment. *Is 2 years of age* - Age itself is **not a primary criterion** for deciding operative treatment in Hirschsprung's disease; the decision is based on clinical presentation and response to treatment. - While many cases are diagnosed and treated surgically in infancy, some present later, and the timing of surgery depends on symptom severity and the child's overall condition. *Has no distension of abdomen* - The presence of **abdominal distension** is a common symptom in Hirschsprung's disease, and its absence would suggest **less severe disease** or effective conservative management, rather than an indication for surgery. - If a child has no distension, it implies that obstruction is not significant or is being managed, making operative intervention less urgent. *Is at least 8 kg in weight and thriving* - Being **at least 8 kg in weight and thriving** generally indicates a child is in good health and a suitable candidate for surgery, but these are **preconditions for safe surgery** rather than the primary criteria for deciding *if* surgery is needed. - The decision to operate is driven by the failure of conservative treatment and the persistence of disease-related symptoms, not solely by the child's weight or general thriving status.
Question 6: Which of the following statements about Hirschsprung disease is incorrect?
- A. The non-peristaltic affected segment is dilated (Correct Answer)
- B. Absence of ganglion cells in the involved segment
- C. Mainly presents in infancy
- D. Swenson, Duhamel, and Soave are surgical procedures for this condition
Explanation: ***The non-peristaltic affected segment is dilated*** - In Hirschsprung disease, the **aganglionic segment** is typically **constricted** and **narrow**, not dilated, due to continuous contraction without relaxation. - The healthy colon proximal to the affected segment becomes dilated due to the obstruction caused by the constricted, aganglionic segment. *Absence of Ganglion cells in the involved segment* - This statement is **correct**. Hirschsprung disease is fundamentally characterized by the **absence of intramural ganglion cells** (Meissner and Auerbach plexuses) in a segment of the distal colon. - This aganglionosis results in a failure of relaxation and normal peristalsis in the affected bowel segment. *Swenson, Duhamel, and Soave are surgical procedures for this condition* - This statement is **correct**. These are the classic and most common **pull-through surgical procedures** used to treat Hirschsprung disease. - They involve resecting the aganglionic segment and pulling the normal, ganglionated bowel down to the anus. *Mainly presents in infancy* - This statement is **correct**. Hirschsprung disease is primarily a **congenital condition** and is typically diagnosed in newborns and infants. - Common presenting symptoms include **failure to pass meconium** within the first 24-48 hours of life, abdominal distension, and bilious vomiting.
Question 7: Biopsy in Hirschsprung's disease can be taken from which level?
- A. 4 cm below dentate line
- B. 6 cm below dentate line
- C. At the level of dentate line
- D. 2-3 cm above the dentate line (Correct Answer)
Explanation: ***2-3 cm above the dentate line*** - This is the **standard recommended site** for rectal suction biopsy in suspected Hirschsprung's disease - At this level, the biopsy reliably samples the **aganglionic segment** in most cases while avoiding the physiologically hypoganglionated zone near the dentate line - Adequate depth to examine both **submucosal and myenteric plexuses** for absence of ganglion cells - High diagnostic accuracy with minimal risk of false negatives *4 cm below dentate line* - This is **anatomically incorrect** - you cannot biopsy "below" the dentate line as this would be perianal skin, not rectal mucosa - The dentate line marks the junction between the anal canal and perianal region - This option represents an impossible biopsy location *6 cm below dentate line* - Similarly **anatomically impossible** - there is no bowel tissue 6 cm below the dentate line - This would be well outside the anal canal in the perianal skin - Not a valid biopsy site for Hirschsprung's diagnosis *At the level of dentate line* - This location is **too low** and within the physiologically hypoganglionated zone - The dentate line area normally has sparse ganglion cells even in healthy individuals - Biopsies at this level have **high false-positive rates** (may appear aganglionic when disease is not present) - Risk of sampling the internal anal sphincter, causing complications
Question 8: Congenital megacolon is confirmed by:
- A. Rectal biopsy (Correct Answer)
- B. Sigmoidoscopy
- C. Invertogram
- D. Barium enema
Explanation: ***Rectal biopsy*** - **Rectal biopsy** is the **gold standard** for diagnosing congenital megacolon (Hirschsprung disease) by demonstrating the **absence of ganglion cells** in the myenteric and submucosal plexuses [1]. - This absence of innervation leads to a functional obstruction, causing proximal bowel dilation [1]. *Sigmoidoscopy* - While **sigmoidoscopy** allows visualization of the mucosa, it cannot directly confirm the **absence of ganglion cells**, which is the hallmark of Hirschsprung disease. - It may reveal features like a **narrowed segment** transition to a dilated segment but requires further diagnostic confirmation. *Invertogram* - An **invertogram** is used to assess the **anal position** and check for imperforate anus by showing the gas bubble in the rectum relative to the skin marker. - It does not provide information about the **innervation of the rectosigmoid colon** or the presence of ganglion cells. *Barium enema* - A **barium enema** can reveal characteristic findings like a **transition zone** between a narrowed aganglionic segment and a dilated, normally innervated colon. - However, it is a **radiological study** and cannot definitively confirm the histopathological absence of ganglion cells, which requires a tissue biopsy. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 759-760.
Question 9: A male infant presented with distension of abdomen shortly after birth with delayed passage of meconium. Subsequently a full-thickness biopsy of the rectum was performed. The rectal biopsy is likely to show:
- A. Lack of ganglion cells (Correct Answer)
- B. Fibrosis of submucosa
- C. Thickened muscularis propria
- D. Hyalinization of the muscular coat
Explanation: ***Lack of ganglion cells*** - The clinical presentation of **abdominal distension** and **delayed meconium passage** in a neonate is highly suggestive of **Hirschsprung disease** [1]. - **Hirschsprung disease** is characterized by the **absence of ganglion cells** in the myenteric (Auerbach's) and submucosal (Meissner's) plexuses of the distal bowel, starting from the anus and extending proximally to varying degrees [1], [2]. *Fibrosis of submucosa* - While some chronic inflammatory conditions can lead to submucosal fibrosis, it is **not the primary histopathological feature** of Hirschsprung disease. - Submucosal fibrosis is more typically seen in conditions like **Crohn's disease** or chronic infectious colitis. *Thickened muscularis propria* - A **thickened muscularis propria** can be an indirect finding in Hirschsprung disease, occurring as a result of **hypertrophy** of the muscle layers proximal to the aganglionic segment, due to increased effort to propel stool past the obstructed area. - However, the **primary diagnostic feature** on biopsy is the absence of ganglion cells, not muscle thickening, which is a secondary change [2]. *Hyalinization of the muscular coat* - **Hyalinization** refers to a glassy, eosinophilic appearance of tissue, often due to protein accumulation or degeneration. - This is **not a characteristic finding** in Hirschsprung disease and is typically associated with conditions like vascular injury or aging changes. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 94-95. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, p. 759.
Question 10: Definitive diagnosis of Hirschsprung's disease is done by?
- A. Rectal Manometry
- B. Rectal Biopsy (Correct Answer)
- C. Barium enema
- D. Enteroclysis
Explanation: ***Rectal Biopsy*** - A **rectal biopsy** is considered the gold standard for diagnosing Hirschsprung's disease by identifying the **absence of ganglion cells** in the affected bowel segment [1]. - The biopsy is typically taken from the **submucosal plexus** (Meissner's plexus) or the **myenteric plexus** (Auerbach's plexus) to confirm aganglionosis. *Rectal Manometry* - **Rectal manometry** measures the pressure changes in the rectum and can suggest Hirschsprung's by detecting the **absence of rectoanal inhibitory reflex (RAIR)**. - While highly suggestive, especially in infants, it is not definitive as false positives and negatives can occur, particularly in premature infants or those with other rectal dysfunctions. *Barium enema* - A **barium enema** can reveal characteristic radiological findings such as a **transition zone** between a dilated, normally innervated colon and a distal, narrowed aganglionic segment. - This imaging study is often used as a screening tool or to delineate the extent of the aganglionic segment, but it does not provide histological confirmation. *Enteroclysis* - **Enteroclysis** is a specialized barium study used to visualize the small bowel, typically for conditions like Crohn's disease or small bowel obstruction. - It is **not indicated** for the diagnosis of Hirschsprung's disease, which primarily affects the large intestine. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, p. 759.
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