Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.

Children with rare diseases present unique challenges for anesthesiologists, as disease-specific factors often impact perioperative management and evidence-based guidance remains limited. Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder of unknown prevalence, with genetic heterogeneity and approximately 500 cases reported to date. Four genetically distinct types have been described. RTS type 2, caused by pathogenic variants in RECQL4, is characterized by poikiloderma, congenital bone defects, and an increased risk of cancer. Published anesthetic literature on RTS is extremely limited, with only a few case reports, none of which address major orthopedic procedures. In this context, we report the anesthetic management of a 10-year-old girl with RTS type 2 undergoing resection of a tibial osteosarcoma. This case highlights key perioperative considerations, outlines the main aspects of our anesthetic approach, and represents the first report of anesthesia for major orthopedic surgery in a patient with RTS. It emphasizes the importance for anesthesiologists to understand the multisystemic manifestations of this disorder, to engage in careful preoperative planning, as well as the need for disease-specific anesthetic guidelines to ensure safe and optimized perioperative care.