Hirschsprung's Disease — MCQs

10 questions

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:

Failure to pass meconium within 48 hours of birth in a newborn with no obvious external abnormality should lead to the suspicion of which condition?

Hirschsprung disease is confirmed by ?

A 6 years old boy experienced life threatening shock, his CT scan showed large amount of ascites, bowel wall thickening and poor or absent enhancement of the strangulated bowel segment, showing gangrenous bowel on surgical exploration. True about anastomosis 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?

All are true about Hirschsprung disease Except

What are the primary criteria for considering operative treatment in Hirschsprung's disease?

Definitive diagnosis of Hirschsprung's disease is done by?

Which of the following statements about Hirschsprung disease is incorrect?

Q10

Biopsy in Hirschsprung's disease can be taken from which level?

Hirschsprung's Disease Indian Medical PG Practice Questions and MCQs

Question 1: 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 2: Failure to pass meconium within 48 hours of birth in a newborn with no obvious external abnormality should lead to the suspicion of which condition?

A. Anal atresia
B. Congenital pouch colon
C. Meconium ileus
D. Hirschsprung's disease (Correct Answer)

Explanation: ***Hirschsprung's disease*** - **Failure to pass meconium** within the first 24-48 hours of life is a classic presentation due to the **absence of ganglion cells** in the distal colon, preventing normal peristalsis. - Absence of obvious external abnormality further points towards an internal cause of intestinal obstruction. *Anal atresia* - This condition involves a **malformation of the anus** or rectum, which would typically be an **obvious external abnormality** on physical examination. - While it causes failure to pass meconium, the key differentiating factor is the visible anatomical defect. *Congenital pouch colon* - This is a rare anomaly where the colon forms a large, dilated pouch, often associated with **Hirschsprung's disease** or **atresia**. - While it can cause meconium retention, the primary suspicion (especially without other signs) for isolated meconium retention is Hirschsprung's. *Meconium ileus* - Meconium ileus is often the earliest manifestation of **cystic fibrosis**, characterized by thick, inspissated meconium obstructing the ileum. - While it causes failure to pass meconium, it usually presents with additional signs of **abdominal distension** and **bilious vomiting** soon after birth.

Question 3: Hirschsprung disease is confirmed by ?

A. Rectal biopsy (Correct Answer)
B. Per/Rectal examination
C. Rectal manometry
D. X-ray abdomen

Explanation: ***Rectal biopsy*** - A **rectal biopsy** is the most definitive diagnostic test for Hirschsprung disease, revealing the absence of **ganglion cells** in the submucosal and myenteric plexuses. - This procedure involves taking a small tissue sample from the rectum, which is then examined under a microscope for characteristic histological changes. *Per/Rectal examination* - A **per/rectal examination** may reveal an empty rectum followed by a gush of stool and gas upon withdrawal of the finger, which is suggestive but not diagnostic. - It is a **clinical finding** that prompts further investigation but does not provide histological confirmation of aganglionosis. *Rectal manometry* - **Rectal manometry** measures pressures within the rectum and can detect the absence of the **rectoanal inhibitory reflex** (RAIR), a hallmark of Hirschsprung disease. - While highly sensitive, it is a **physiological test** indicating functional abnormalities, but it does not provide the definitive histological diagnosis of aganglionosis. *X-ray abdomen* - An **X-ray of the abdomen** may show dilated loops of bowel proximal to a narrowed, aganglionic segment, indicating intestinal obstruction. - This imaging study is useful for **initial assessment** and identifying signs of obstruction, but it is not specific for Hirschsprung disease and cannot confirm the absence of ganglion cells.

Question 4: A 6 years old boy experienced life threatening shock, his CT scan showed large amount of ascites, bowel wall thickening and poor or absent enhancement of the strangulated bowel segment, showing gangrenous bowel on surgical exploration. True about anastomosis is:

A. Should be performed using catgut sutures, which are absorbable.
B. Should be performed using single-layer sutures incorporating the submucosa. (Correct Answer)
C. Should be performed using continuous sutures to save time.
D. Should be performed using single-layer seromuscular Lembert sutures, the standard technique.

Explanation: ***Should be performed using single-layer sutures incorporating the submucosa.*** - **The submucosa is the strongest layer** of the bowel wall, providing 80-90% of the tensile strength necessary for anastomotic integrity. - **Single-layer extramucosal technique** including the submucosa is the current gold standard for intestinal anastomosis, providing adequate strength while minimizing tissue trauma. - This approach ensures proper healing with **lower leak rates** compared to techniques that exclude the submucosa, as it provides the critical structural support during the healing phase. - Modern evidence supports single-layer over two-layer anastomoses, with equivalent or better outcomes and reduced operative time. *Should be performed using single-layer seromuscular Lembert sutures, the standard technique.* - **Lembert sutures are seromuscular only** and intentionally exclude the mucosa and submucosa, which is the strongest layer. - This technique was historically used as a **second layer** in two-layer anastomoses but is now considered outdated as the sole anastomotic technique. - Without incorporating the submucosa, the anastomosis lacks the **critical tensile strength** needed during healing, increasing the risk of dehiscence and leakage. - Modern surgical practice has moved away from purely seromuscular techniques in favor of single-layer methods that include the submucosa. *Should be performed using catgut sutures, which are absorbable.* - **Catgut sutures** are associated with higher inflammatory response and unpredictable absorption rates, making them less ideal for intestinal anastomoses. - Modern practice favors **synthetic absorbable sutures** (polyglactin, polydioxanone) which provide more consistent tensile strength retention during the critical healing period. - Catgut's rapid and unpredictable degradation can compromise anastomotic integrity before adequate tissue healing, increasing leak risk. *Should be performed using continuous sutures to save time.* - While **continuous sutures** can be used safely by experienced surgeons, they carry risk of **purse-string effect** leading to luminal narrowing and potential stricture formation. - Continuous sutures can compromise **microcirculation** if placed too tightly, increasing risk of ischemia and anastomotic breakdown. - **Interrupted sutures** allow better control of tension and preserve blood supply to the anastomotic edges, which is particularly important in compromised bowel.

Question 5: 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 6: All are true about Hirschsprung disease Except

A. Absence of ganglion cells within the affected segment
B. The rectum is never affected (Correct Answer)
C. Dilation proximal to the affected segment.
D. Hirschsprung disease typically presents with a failure to pass meconium in the immediate postnatal period.

Explanation: ***The rectum is never affected*** - Hirschsprung disease always involves the **rectum** and extends proximally for a variable distance. - The aganglionic segment uniformly includes the **distal rectum**. *Absence of ganglion cells within the affected segment* - The primary defect in Hirschsprung disease is the **absence of ganglion cells** (Meissner and Auerbach plexuses) in the affected intestinal segment. - This **aganglionosis** leads to a functional obstruction. *Dilation proximal to the affected segment* - Due to the functional obstruction from the aganglionic segment, the normal bowel **proximal** to it becomes dilated and hypertrophied. - This dilation occurs as the bowel tries to overcome the obstruction. *Hirschsprung disease typically presents with a failure to pass meconium in the immediate postnatal period* - A classic presentation of Hirschsprung disease is the failure to pass **meconium** within the first 24-48 hours of life. - This symptom is due to the lack of peristalsis in the aganglionic segment.

Question 7: 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 8: 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.

Question 9: 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 10: 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

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