Cauda equina syndrome with beta thalassemia: a case report.

Abstract

Introduction: Cauda equina syndrome (CES) related to beta thalassemia with extramedullary hematopoiesis is a rarely reported and challenging clinical presentation. A thorough literature review revealed only a limited number of documented cases, each demonstrating a variety of treatment modalities with divergent outcomes.

Case presentation: In this case, a 29-year-old male with beta thalassemia, undergoing frequent blood transfusions, and with a history of splenectomy, presented with 2 days of worsening in his lower back pain, extending to both lower limbs, numbness, and urinary incontinence. Following the ASIA ISNCSCI scoring system for physical assessment, there was a significant decrease in anal tone and perianal sensation, suggesting possible sacral nerve roots involvement, but no other upper or lower extremities sensory or motor deficits were detected. Provided with the patient history of frequent blood transfusion and Thalassemia for which hematology referral was promoted. Spinal MRI revealed extramedullary hematopoiesis, disc protrusion, and cauda equina compression.

Discussion: Spine surgery, including decompression and laminectomy, resulted in improved back pain and lower limb symptoms during the one-year follow-up. However, persistent sensory impairment and neurogenic bladder necessitated ongoing urological management. The absence of clear guidelines for the management of such cases underscores the need for further data collection and comprehensive outcome reviews.