Bibliogr. s. 86

Background: Patients with heterotaxy syndrome often have complex cardiac and extracardiac anomalies requiring further detailed diagnostic evaluation. They often present severe cardiac failure early in life. Newer radiological modalities in the form of spiral computed tomography (CT) and three-dimensional reconstruction of spiral CT allow clear definition of the anatomy of these anomalies. Case report: A 59-year-old woman was diagnosed with polysplenia and multiple anomalies in an abdominal ultrasonography (US) during a control medical examination due to a trivial dietary mistake. She was then referred to our institution for further examination of these anomalies and an additional thoraco-abdominal computed tomography (CT) examination. The patient was totally asymptomatic at the time of admission. There was no significant past history and no abnormal laboratory data. We performed abdominal, pelvic and thoracic CT examinations using Somatom Siemens Emotion scanner. Non-enhanced sections were obtained with 8 mm scan collimation. Then, enhanced sections were obtained after administering a bolus of 120 ml contrast agent (Ultravist) with 5 mm scan collimation. Further multiple planar (MPR), volume rendering technique (VRT) and 3D reconstructions were performed in order to better visualize present abnormalities. Abdominal CT scans showed 5 spleens located in the right upper abdomen, 2 of them joined together in the form of a horseshoe with the latter 3 small splenules around. Liver was elongated and located in the central upper abdomen, with an enlarged left lobe. The dextraposition of stomach was found. Pancreas was short with hypoplastic tail. Furthermore, there was an abnormal passage of the IVC through the abdomen, which was interrupted at the level of diaphragm with azygous continuation in the thorax then joining the SVC, forming an arch and draining directly to the right-sided atrial appendage. No other anatomic anomalies, in particular those concerning the venous pulmonary return, lung lobation, rotation of the intestine, gastrourinary or central nervous system, often found in heterotaxy syndromes, were observed. Conclusions: Most of the patients die at an early age because of an associated heart disease or other malformations. Cases of heterotaxy in adults or adolescents are rare and can be sometimes discovered incidentally. We report a case of an asymptomatic adult patient with the polysplenia type of the syndrome and uncommon systemic venous drainage for this type of heterotaxy. Our case confirms also the frequent coexistence of midline associated defects in polysplenia and other heterotaxy syndromes. In our case, female sex, dextraposition of the stomach, short and hypoplastic pancreas and right-sided polysplenia occurred together, but we did not observe any malrotation of intestines, nor clearly seen gallbladder or biliary pathologies.