부산대학교 도서관

The Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder associated with congenital malformations and a high incidence of embryonal tumors such as hepatoblastoma. We report a case of a 13-month-old boy born with extremely low birth weight. On the basis of his physical characteristics and family history, he was considered to have SGBS. He had an abdominal mass due to hepatoblastoma. Treatment with cisplatin alone was started. Cisplatin was initially administered at a reduced dose, and no apparent adverse events were observed. Thereafter, he was treated with the full dose of cisplatin. After four courses of chemotherapy, doxorubicin was added for three more courses because surgical resection was difficult. Partial hepatectomy was performed after these courses of chemotherapy. Two courses of irinotecan therapy were administered postoperatively. The patient had no complications or recurrence up to 16 months postoperatively. We plan to follow up the patient to monitor the development of other tumors as well.