Question

Difficulty: HardPediatric Gastrointestinal Disorders

Match each pediatric gastrointestinal clinical presentation (left) with its most characteristic imaging or histopathologic diagnostic finding (right).

  • A 14-day-old premature infant (born at 27 weeks gestation) develops feeding intolerance, abdominal distension, and grossly bloody stools.Pneumatosis intestinalis and portal venous gas on plain abdominal radiograph
  • A 3-day-old full-term neonate who has not yet passed stool presents with abdominal distension and has an explosive release of stool and gas upon digital rectal examination.Absence of ganglion cells in the submucosal and myenteric plexuses on rectal suction biopsy
  • A 1-day-old neonate with a prenatal history of polyhydramnios presents with recurrent bilious emesis; physical examination reveals a remarkably scaphoid abdomen.A 'double-bubble' appearance with a lack of distal bowel gas on plain abdominal radiograph
  • A 2-day-old full-term neonate born to parents who are both carriers of a CFTR gene mutation presents with progressive abdominal distension, bilious emesis, and failure to pass stool.A microcolon on contrast enema with an irregularly dilated terminal ileum containing inspissated material
  • A 3-week-old previously healthy infant suddenly develops severe, paroxysmal bilious emesis and abdominal tenderness; initial plain abdominal radiographs appear normal.A 'corkscrew' appearance of the duodenum and right-sided position of the duodenojejunal junction on upper gastrointestinal contrast series

Answer

The correct pairings link each specific clinical presentation to its definitive diagnostic finding: premature infant with bloody stools to pneumatosis intestinalis; term neonate with explosive rectal exam to absent ganglion cells; neonate with a scaphoid abdomen to the double-bubble sign; neonate with cystic fibrosis risk to a microcolon on enema; and the 3-week-old with sudden bilious vomiting to a corkscrew duodenum on upper GI series.
Each clinical vignette provides classic epidemiological, historical, and physical examination clues that point to a distinct pediatric gastrointestinal emergency. Correctly identifying the underlying pathology (NEC, Hirschsprung disease, duodenal atresia, meconium ileus, and midgut volvulus) allows the physician to select the definitive diagnostic modality or recognize the pathognomonic finding associated with that condition.

Step-by-Step Solution

1
Analyze the first vignette to determine the underlying diagnosis.
The premature infant with bloody stools and temperature instability has necrotizing enterocolitis (NEC).
Prematurity and enteral feeding are the primary risk factors for NEC, leading to bowel ischemia and necrosis.
2
Analyze the second and fourth vignettes, which both feature failure to pass meconium.
The infant with the 'squirt sign' has Hirschsprung disease; the infant with a CFTR mutation has meconium ileus.
Differentiating these is critical: Hirschsprung is a neuronal defect diagnosed by biopsy, while meconium ileus is an obstructive phenomenon presenting with a microcolon on contrast enema.
3
Analyze the third and fifth vignettes, which both feature bilious emesis without lower obstruction.
The day-1 neonate with a scaphoid abdomen has duodenal atresia; the 3-week-old with sudden onset has midgut volvulus.
Duodenal atresia presents at birth with the 'double-bubble' sign, whereas volvulus can present later (e.g., at 3 weeks) and requires an upper GI series showing a 'corkscrew' pattern for definitive diagnosis.
4
Match each established diagnosis with its corresponding gold-standard diagnostic finding.
NEC matches pneumatosis intestinalis; Hirschsprung matches absent ganglion cells; Duodenal atresia matches double-bubble; Meconium ileus matches microcolon; Volvulus matches corkscrew duodenum.
This establishes the definitive pathophysiologic and diagnostic links required to correctly answer the item.

Key Concept

Clinical recognition and gold-standard diagnostic modalities for neonatal gastrointestinal emergencies.
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