Unusual association of Axenfeld-Rieger syndrome and wandering spleen: A case report

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disease characterized by ocular developmental disorders and its association with torsion of wandering spleen (WS) has not been reported to date to the best of our knowledge. This study aimed to describe a rare case of ARS observed at our emergency department. CASE SUMMARY: A 25-year-old female presented with a constant lower abdominal pain of increasing severity. Diagnostic computed tomography with intravenous contrast material showed a non-homogenously enhanced splenic parenchyma with a twisted vascular pedicle. Further, an emergent laparoscopic exploration was performed, and an ischemic spleen without its normal ligamentous attachments was noted. Notably, the spleen did not regain its normal vascularity after detorsion; thus, we performed the laparoscopic total splenectomy. The postoperative course was uneventful, and the patient was discharged on the 5(th) postoperative day. This case demonstrates a rare association of WS and ARS. CONCLUSION: Early diagnosis of WS in the emergency department is important to prevent pedicle torsion or splenic necrosis and to avoid splenectomy.