Acquired Hirschsprung Disease Diagnosis and Management
Clinical Presentation and Diagnosis
- Abdominal distension with stenosis on PR examination followed by a gush of liquid stool is the pathognomonic finding for functional or anatomic distal obstruction, as noted by Gut 1, 2
- The "gush sign" occurs when the examining finger passes through a stenotic/spastic segment, releasing accumulated proximal contents, according to Gut 1
- The American Gastroenterological Association recommends assessing for visible peristalsis, degree of distension, and performing careful digital rectal exam noting sphincter tone and the "gush sign" in patients with suspected acquired Hirschsprung disease 1, 3
Etiology and Epidemiology
- Trypanosoma cruzi causes Chagas disease, which leads to destruction of the myenteric plexus neurons throughout the GI tract, resulting in acquired megacolon and megaesophagus, as reported by Gut 1, 2
- The parasitic infection causes chronic denervation, producing functional obstruction with proximal dilation, according to Gut 2
- The World Health Organization notes that Chagas disease is endemic in Latin America, but cases occur worldwide due to migration, as cited in Gut 1
Diagnostic Approach
- The World Journal of Emergency Surgery recommends systematically evaluating history, including endemic area exposure, previous surgeries, and chronic constipation since birth, in patients with suspected acquired Hirschsprung disease 4, 5
- Laboratory tests, such as complete blood count, electrolytes, and Chagas serologies, are essential in diagnosing acquired Hirschsprung disease, as noted by the World Journal of Emergency Surgery 4
- Imaging studies, including plain radiographs and contrast enema, can demonstrate dilated bowel loops and transition zone, according to Praxis Medical Insights 3