Hypoganglionosis with chronic constipation and abdominal compartment syndrome
History of chronic constipation. Worsening abdominal pain and distension post bowel preparation for colonoscopy that was aborted because of copious quantities of solid stool precluding visualization.
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Grossly dilated and tortuous large bowel. The sigmoid colon is redundant to the level of the epigastrium. The sigmoid colon measures up to 11.8 cm in diameter. Large amount of fecal loadings are present in the rectum, and distal sigmoid colon, and moderate amount of materials in the remaining colon. There is an apparent mild thickening of the wall of the anorectal junction. The liver is being indented inferior by the dilated sigmoid colon. Mild to moderate left hydronephrosis and proximal hydroureter is evident.
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Operative photos of emergency open total colectomy and end Ileostomy. Figure 1) Distended sigmoid colon. Figure 2) Colotomy and decompression.
Post CT scan. He became tachycardic (HR 146) with tachypnoea and dyspnoea. His abdomen became severely distended and rigid on examination. Venous blood gas demonstrated lactate acidosis with pH 7.29 and lactate of 7.2 mmol/L. Clinical diagnosis of abdominal compartment syndrome was made.
He underwent an emergency open total colectomy and end Ileostomy.
Operative findings included:
- Grossly distended sigmoid, rectum and caecum (Figure 1). Transverse colon and descending colon mildly distended. Normal small bowel loops.
- Sigmoid colotomy performed, some faeces and gas evacuated (Figure 2).
- Rectum impacted with large 15cm size, rock hard faeces.
He made an unremarkable post-op recovery.
Macroscopic description: A total colectomy including appendix, 1520mm in length with mesentery present up to a depth of 125mm. The serosal surface is purple tan, smooth and congested. There is a variable bowel wall thickness between 1mm and 6mm. It is generally dilated with lack of mucosal folds on the mucosal surface.
Microscopic description: Part of the colon is markedly attenuated with marked thinning of the mucosa and muscle wall. The mucosa is mostly intact except at one area indicated macroscopically by the plaque like area where there is sloughing of the mucosa with haemorrhage and transmural acute inflammatory infiltrate. These features suggest focal acute ischaemia. Submucosal and myenteric plexuses with ganglion cells scatter throughout the entire specimen but the number appears to be reduced particularly ganglionic myenteric plexuses are lower in number than expected and some plexuses are devoid of ganglion cells. Hypoganglionosis could be a cause of severe chronic constipation.
Diagnosis: Total colectomy: hypoganglionosis; focal acute ischaemia
Hypoganglionosis is a rare intestinal neuronal dysplasia and resembles Hirschsprung disease 1. Diagnosis is confirmed with histopathology and features include a significant reduction in ganglion cells in the myenteric and the submucous plexus 2. It is a rare cause of chronic constipation. There have been few case reports of hypoganglionosis causing volvulus and mega-sigmoid-rectum 3, 4.
Hypoganglionosis and severe constipation can cause abdominal compartment syndrome 5. The increase in intra-abdominal pressure can cause multisystem failure such as collapse of the cardiovascular system and lead to ischemic injury and death 6, 7.
Imaging review of grossly dilated large bowel should include examination for signs of bowel ischemia such as pneumatosis intestinalis or mass effect causing hydronephrosis.
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- 2. Dingemann, J. and P. Puri, Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect. Pediatr Surg Int, 2010. 26(11): p. 1111-5. doi: 10.1007/s00383-010-2693-3 - Pubmed
- 3. Qadir, I., et al., Isolated adult hypoganglionosis presenting as sigmoid volvulus: a case report. Journal of Medical Case Reports, 2011. 5(1): p. 445. doi: 10.1186/1752-1947-5-445 - Pubmed
- 4. Aldossary, M.Y., et al., A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. The American journal of case reports, 2018. 19: p. 557-561. doi: 10.12659/AJCR.907109 - Pubmed
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- 6. Zarog, M., et al., Abdominal compartment syndrome secondary to megarectum and megasigmoid. BMJ Case Reports, 2018. 2018: p. bcr-2017. doi: 10.1136/bcr-2017-224097 - Pubmed
- 7. Nishijima, A., et al., Pseudo-Hirschsprung’s disease with rectal hypoganglionosis: An autopsied case of circulatory failure due to severe constipation. Legal Medicine, 2015. 17(3): p. 177-179. doi: 10.1016/j.legalmed.2014.11.005 - Pubmed