Polysplenia syndrome in adulthood: A case report of incidental discovery

The Polysplenia Syndrome (PSS) is a form of heterotaxy, a rare congenital anomaly with an estimated incidence of 1 in 250,000 live births, first described by Helwig in 1929. Most patients with polysplenia syndrome die during the neonatal period due to severe associated cardiac and biliary anomalies. Nevertheless, some individuals present with moderate cardiovascular malformations or abdominal anomalies, often discovered incidentally in adulthood. PSS is categorized under ambiguous situs syndromes or heterotaxy, also known as left or bilateral isomerism. However, it remains a complex and controversial entity, lacking specific pathognomonic features but exhibiting a broad spectrum of anomalies. We report the case of a 29-year-old woman admitted for acute chest pain, associated with lightheadedness and syncope. Clinical examination revealed tachycardia and tachypnea. A thoraco-abdominal CT angiography identified 3 splenules, auricular and bronchopulmonary isomerism, along with cardiovascular and digestive anomalies, suggestive of polysplenia syndrome. Symptomatic treatment was initiated, with a favorable clinical outcome and no need for specific therapeutic intervention.