Dorsal pancreas agenesis and polysplenia/heterotaxy syndrome: a novel association with aortic coarctation and a review of the literature.

Abstract

CONTEXT:

Agenesis of the dorsal pancreas is very rare and may be associated with other congenital disease states. It has a rare association with polysplenia/heterotaxy syndrome. Most commonly, these states occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac malformations.

CASE REPORT:

We report a case of a 25-year-old male with known coarctation of the aorta who was otherwise asymptomatic. Following a routine cardiac examination, he was incidentally discovered to have an absent body and tail of the pancreas on imaging. Further testing demonstrated findings consistent with a diagnosis of polysplenia/heterotaxy syndrome with agenesis of the dorsal pancreas.

CONCLUSIONS:

In patients with congenital heart disease, there is increased likelihood for the presence of other congenital malformations. In particular, polysplenia/heterotaxy syndrome, while very rare, has been shown to be associated with cardiac abnormalities. The importance in diagnosis lies in the potential clinical consequences of polysplenia/heterotaxy syndrome and agenesis of the dorsal pancreas, including late-onset diabetes mellitus, pancreatitis, and intestinal volvulus.

• Authors: Suraj Kapa, Ferga C Gleeson, Santhi Swaroop Vege
• Journal: JOP : Journal of the pancreas (JOP) Vol. 8 Issue 4 Pg. 433-7 (Jul 09 2007) ISSN: 1590-8577 [Electronic] England
• PMID: 17625295 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (diagnosis, diagnostic imaging)
• Adult
• Aortic Coarctation (diagnosis, diagnostic imaging)
• Humans
• Male
• Pancreas (abnormalities, diagnostic imaging)
• Radiography
• Spleen (abnormalities, diagnostic imaging)
• Syndrome