Analysis of associated malformations by computed tomography in adults with polysplenia syndrome: A pilot study

PLoS One. 2024 Dec 20;19(12):e0312548. doi: 10.1371/journal.pone.0312548. eCollection 2024.

Abstract

Objective: To analytically depict the associated malformations of polysplenia syndrome (PS) in adults via computed tomography (CT).

Materials and methods: The incidence of malformations associated with PS in twelve adult patients was retrospectively analyzed via CT imaging.

Results: The number of splenic nodules ranged from three to twelve; the splenic nodules were located in the left upper quadrant in nine patients and in the right upper quadrant in three patients. A short pancreas was present in all twelve patients. Midgut malrotation was present in eight patients. Situs inversus totalis was present in two patients. Nine patients presented the absence of hepatic segmental inferior vena cava (IVC), with the hepatic vein directly converging into the right atrium and the continuation of the azygos vein. The preduodenal portal vein was present in six patients. Left lung heterotaxy was found in nine patients. The inferior vena cava was bilateral in one patient. Aberrant right subclavian arteries, bilateral common carotid arteries sharing trunks, abnormal renal vein branching and routing, and abdominal portal vein branching were also found in individual patients.

Conclusions: PS is a complex malformation syndrome involving multiple systems. The most common malformation is short pancreas, and other malformations, such as left lung heterogeneity, hepatic segmental IVC agenesis with continuation of the azygos vein, midgut malrotation, preduodenal portal vein, and left atrial heterotaxy, have relatively high prevalence rates.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Adult
  • Digestive System Abnormalities / diagnostic imaging
  • Female
  • Heterotaxy Syndrome* / diagnostic imaging
  • Humans
  • Intestinal Volvulus / diagnostic imaging
  • Lung / abnormalities
  • Lung / diagnostic imaging
  • Male
  • Middle Aged
  • Pancreas / abnormalities
  • Pancreas / diagnostic imaging
  • Pilot Projects
  • Portal Vein / abnormalities
  • Portal Vein / diagnostic imaging
  • Retrospective Studies
  • Situs Inversus / diagnostic imaging
  • Spleen* / abnormalities
  • Spleen* / diagnostic imaging
  • Tomography, X-Ray Computed*
  • Vena Cava, Inferior* / abnormalities
  • Vena Cava, Inferior* / diagnostic imaging
  • Young Adult

Supplementary concepts

  • Volvulus Of Midgut

Grants and funding

The funding for the research has been provided by " Suzhou key diseases project (LCZX202212), Suzhou Science and Technology Bureau Project (SKY2023064, SKYD2023255)" and the funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.