Abstract
We report the case of a 25-year-old male with Cornelia de Lange Syndrome (CdLS), complicated by short bowel syndrome and requiring home parenteral nutrition management. Amid recurrent hospital admissions due to catheter-related complications and other comorbidities, the patient’s sole caregiver, his grandmother, expressed a desire to discontinue aggressive treatment. Given the difficulty in confirming the patient’s own wishes, a treatment plan was developed with respect for the family’s intentions and careful consideration of ethical and legal perspectives. Through regional collaboration involving the hospital ethics committee, a legal advisor, the home medical care team, and local government staff, we conducted consensus-building and advance care planning (ACP) using an ACP documentation sheet. A noninvasive home care system was established accordingly. This case highlights the importance of implementing ACP even in patients with severe intellectual and physical disabilities without malignancy. It also emphasizes the need for pediatric surgeons to understand the principles of ACP and actively participate in shared decision-making within a multidisciplinary team.
