Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome

We describe a case of asymptomatic polysplenic syndrome as suggested by ultrasonography, gastrointestinal series, computed tomography, magnetic resonance imaging scans and arteriography, and confirmed at surgery. Spleen malformation is frequently associated with heterotaxia and other malformations of the thoracic and abdominal organs, but no pathognomonic features can be detected in relation to this condition. In our patient, imaging studies revealed the presence of a polylobulated spleen in an atypical position below the liver, associated with malpositioning of the gastric fundus and gastro-oesophageal junction with interruption of the inferior vena cava, but no congenital heart disease. In conclusion, polysplenic syndrome is a rare clinical condition, occasionally found in asymptomatic adults. Radiological detection could be mistaken for mediastinal or abdominal pathological masses, and only a thorough study performed with several different radiological methods can determine the precise anatomy of the structures involved so as to be able to plan surgery where necessary.