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Hirschsprung's Disease: A Rare Adult Diagnosis
Kaitlyn Schmutz1, Gaea McGaig2, B Jason Theiling3
1Duke University Hospital, Department of Emergency Medicine, Durham, North Carolina.
Insights
Hirschsprung's disease (HD) is typically diagnosed in childhood. This case highlights a rare adult diagnosis of HD, often presenting with chronic constipation, identified via computed tomography (CT).
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Radiology
Background:
- Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction.
- While most cases are diagnosed in infancy or early childhood, a significant proportion may remain undiagnosed until adulthood.
- Undiagnosed HD in adults can lead to severe complications, including chronic constipation, enterocolitis, and failure to thrive.
Purpose of the Study:
- To report a case of adult-onset Hirschsprung's disease.
- To emphasize the importance of considering HD in adult patients presenting with chronic constipation and abdominal distention.
- To highlight the utility of computed tomography (CT) in diagnosing this rare condition in adults.
Main Methods:
- A case presentation of a young adult male with a history of chronic constipation and acute abdominal distention.
- Diagnostic workup included computed tomography (CT) scan.
- Review of literature regarding adult presentations of Hirschsprung's disease.
Main Results:
- The patient was diagnosed with Hirschsprung's disease based on clinical presentation and CT findings.
- Computed tomography (CT) effectively identified characteristic signs of HD in this adult patient.
- The case underscores that HD can manifest in adulthood, often presenting insidiously with chronic constipation.
Conclusions:
- Hirschsprung's disease, though typically a pediatric diagnosis, should be considered in the differential diagnosis of adult patients with chronic constipation and abdominal symptoms.
- Computed tomography (CT) is a valuable imaging modality for diagnosing adult-onset HD.
- Delayed diagnosis of HD can lead to significant morbidity in adulthood, necessitating increased awareness among clinicians.
Case Presentation:
Approximately 94% of patients with Hirschsprung's disease (HD) are diagnosed before the age of five. In our case, a young adult with years of constipation presented to the emergency department with significant abdominal distention. He was ultimately diagnosed with HD, which was identified using computed tomography (CT).
Discussion:
In HD, we find defects in gastric motility due to improper gut colonization. Without childhood recognition, HD often leads to chronic constipation and failure to thrive in adulthood. CT is a key step in identifying this rare adult diagnosis that should be considered in all patients with a history of chronic constipation.
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