Treatment of Hirschsprung's Disease
The definitive treatment for Hirschsprung's disease is surgical removal (resection) of the aganglionic bowel segment followed by reanastomosis of normally innervated bowel to restore intestinal continuity. 1
Diagnosis and Preoperative Assessment
- Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the distal bowel, beginning at the internal anal sphincter and extending proximally for variable distances 1
- Diagnostic techniques include anorectal manometry, barium enema, and rectal biopsy to confirm the absence of ganglion cells 1
- The aganglionosis is confined to the rectosigmoid region in approximately 80% of patients 1
Surgical Management
Surgical Techniques
- Traditional surgical approaches for HD include techniques developed by:
- Swenson procedure
- Duhamel procedure
- Soave procedure 1
- More recently, minimally invasive laparoscopic procedures have been introduced for the treatment of HD, offering potential benefits of reduced surgical trauma 1
- The surgical procedure involves removing the aganglionic segment and creating a ganglionated neorectum using proximal normally innervated bowel 2
Intraoperative Considerations
- Intraoperative frozen section evaluation of the circumference of the bowel to be used for pull-through is strongly recommended to confirm:
- The presence of ganglion cells
- Normal-caliber nerves 2
- This step is crucial as the transition zone between aganglionic and ganglionic bowel is irregular, featuring variable quantities of ganglion cells and numerous large nerves 2
Postoperative Management and Complications
- Despite appropriate surgical intervention, poor outcomes may occur in some patients 2
- The most common indication for reoperation is severe constipation or obstruction 2
- Pathological examination of resected problematic pull-through specimens reveals that abnormal innervation of the bowel used for pull-through is a common finding, with transition zone or aganglionic bowel found in 63% of reoperation cases 2
- Additional complications may include stricture formation and enterocolitis 2
Recent Advances in Assessment
- Three-dimensional imaging techniques have shown that ENS (enteric nervous system) structure changes during childhood and may provide new insights into Hirschsprung's disease 3
- Tissue clearing and 3D imaging provide more reliable information about ENS structure than traditional tissue sections 3
- Quantitative analyses suggest age-dependent changes in the myenteric plexus area, ENS ganglion area, and neuron density 3
- These advanced imaging techniques may help identify hypoganglionic bowel (low ENS density), which could be responsible for some post-surgical complications 3
Rare Complications
- A rare but distinct entity described as the ganglion cell "vanishing" phenomenon has been reported, where patients initially have normal ganglion cells at the proximal margin during primary resection but develop recurrent symptoms later 4
- Upon reoperation, ganglion cells are no longer present in the previously functioning and ganglionated bowel 4
- Possible etiologies include post-operative ischemia/hypoxia, visceral neuropathy, or signaling abnormalities within the residual ganglion cells 4
Emerging Diagnostic Technologies
- Label-free optical modalities such as second harmonic generation, two-photon excitation autofluorescence, and Raman spectroscopy are being investigated for rapid, accurate identification of ganglion cells 5
- These technologies could potentially allow for near real-time intraoperative histology to guide surgical decisions with minimal human intervention 5