Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults. This case study addresses the incidental discovery of situs ambiguous with polysplenia in a 65-year-old man evaluated for suspected adrenal adenoma. The patient's medical history included benign prostatic hyperplasia and tuberculous pleurisy. Methods included a thorough physical examination and laboratory tests, which showed normal cortisol levels and ACTH rhythm. Contrast-enhanced CT imaging revealed multiple spleens near the right adrenal region, altered liver positioning, a truncated pancreas, and a right-sided stomach, while the right adrenal gland was not visualized. Notably, the patient exhibited minimal symptoms despite these significant anatomical anomalies. The findings underscore the rarity of situs ambiguous in adults and its unexpected association with endocrine pathology. This case highlights the importance of comprehensive imaging and a multidisciplinary approach in managing patients with unusual anatomical presentations. It suggests that situs anomalies may be more prevalent in adult populations than previously recognized and emphasizes the need for increased clinical awareness and evaluation in similar cases.

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http://dx.doi.org/10.3390/medicina60122010DOI Listing

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Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults. This case study addresses the incidental discovery of situs ambiguous with polysplenia in a 65-year-old man evaluated for suspected adrenal adenoma. The patient's medical history included benign prostatic hyperplasia and tuberculous pleurisy.

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Background: Asplenia-type heterotaxy syndrome (HS) is rare and refers to visceral malposition and dysmorphism. It is associated with a high infant mortality rate due to cardiac anomalies, and related digestive endoscopic interventions are poorly understood. With the improved long-term prognosis of these individuals after modern cardiac surgery, intra-abdominal anomalies have become increasingly significant.

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Article Synopsis
  • Heterotaxy syndrome (HS) is a rare congenital disorder characterized by unusual arrangements of thoracic and abdominal organs, which complicates its diagnosis due to varied clinical presentations and an unclear classification system.
  • The case of a 50-year-old male with a history of multiple health issues presented symptoms like abdominal and back pain, leading to the discovery of congenital anomalies associated with HS and left isomerism, as well as complications from hepatolithiasis.
  • This scenario highlights the diagnostic and management challenges of HS, emphasizing the need for a multidisciplinary approach to care, especially when patients exhibit acute medical issues tied to their unique anatomical structures.
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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.

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A 3-year-old crossbreed dog (case 1) and a 3-month-old German Shorthaired Pointer (case 2) were presented for acute signs of encephalopathy. A portosystemic shunt (PSS) was suspected based on clinical context and laboratory exam results and was confirmed on computed tomography (CT) angiography in both cases. A left-sided azygos (case 1) and right-sided azygos (case 2) continuation of an interrupted caudal vena cava (CVC) and a situs ambiguous (SA) were also observed and considered as incidental findings.

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