Haiying Chen MD, Amy Davis MD and Miguel Reyes-M˙gica MD
A male patient was diagnosed with long segment Hirschsprung disease (HSCR) at birth at an outside hospital. By report, the entire colon and the small bowel up to 6 cm above the ligament of Treitz were aganglionic. The child had been on total parental nutrition (TPN) and over time developed TPN-associated liver cirrhosis.
SURGERY and PATHOLOGY FINDINGS
When he was 30 to 40 months old, the patient came to UPMC for multi-visceral transplantation. An intraoperative frozen section consultation from a segment of native proximal jejunum was submitted for assessment of ganglion cells. Ganglion cells were identified in the submucosal nerve plexus (Figure 1), but no ganglion cells were seen in the normal location of the AŘerbach plexus, and instead, the circular and longitudinal layers of the muscularis propria were seen closely apposed without intervening nerve plexus. Based on the abnormal ganglion cell pattern and the history of duodenal involvement by HSCR, the entire small bowel and colon, as well as the distal portion of stomach were explanted and sent to pathology.
On permanent sections, the stomach shows an apparently reduced number of ganglion cells in the myenteric plexus. No definite ganglion cells are seen in the submucosa. The duodenum shows complete absence of ganglion cells in the submucosal and myenteric plexus. (Figures 2 and 3). The remaining tissue following frozen section of proximal jejunum confirms the frozen section impression: multiple clusters of submucosal ganglion cells (Figure 4) but no ganglion cell identified between the two closely apposed muscularis propria layers (Figure 5). Ganglion cells are present in both Meissner's plexus and Henle's plexus. Calretinin immunostain of the same section does not show any calretinin positive nerve fibers in the lamina propria or muscularis mucosae (Figure 6). A calretinin immunostain of normally ganglionated colon (not this patient) is included as positive control (Figure 7). Multiple sections of the rest of the small bowel show no ganglion cells in either submucosal or myenteric plexus. The two muscularis propria layers are closely apposed, as observed in the duodenum and the proximal jejunum. Multiple sections of the colon show the same features: absence of ganglion cells in submucosal (Figure 8) and myenteric plexus (Figure 9). The two muscularis propria layers are closely apposed (Figure 9). Throughout the intestinal tract, there are occasional large nerve trunks between the two muscularis propria layers but no hypertrophic nerve trunks are identified in the submucosa.
What is the diagnosis of the patient? How would you characterize the changes seen in the proximal jejunum?