Muguerza Rosa, Rodriguez Alberto, Formigo Emilia, Montero Margarita, Vázquez José L, Páramo Cristina, Campos Carmen
Department of Pediatric Surgery, Complejo Hospitalario Xeral-Cíes, Pizarro 22, 36204 Vigo, Spain.
J Pediatr Surg. 2005 Aug;40(8):1341-4. doi: 10.1016/j.jpedsurg.2005.05.025.
A case of pancreatoblastoma (PB) in a 2 month-old male infant with incomplete Beckwith-Wiedemann syndrome is presented. Clinical examination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, and enlargement of the left testis. Imaging with ultrasound and computed tomography scan showed a well-defined, heterogeneous, and grossly cystic mass arising from the head of the pancreas. Serum alpha-fetoprotein (AFP) level was elevated. The tumor was completely resected, and the histological analysis showed PB. The patient's recovery was uneventful, and AFP returned to normal values after surgery. The child has been disease-free for 5 years, and his serum AFP remained within normal values. Six other examples of this association, PB, and Beckwith-Wiedemann syndrome are recorded in the literature. The risk of developing tumor in this syndrome (complete and incomplete form) increases when hemihypertrophy is present, and the need for routine screening examination is warranted. Beckwith-Wiedemann syndrome was suggested to be a favorable biological marker for survival in children who have intraabdominal tumors.
本文报告一例患有不完全性贝克威思-维德曼综合征的2个月大男婴的胰腺母细胞瘤（PB）病例。临床检查发现左侧半身肥大、巨舌、双侧眼球突出以及左侧睾丸增大。超声和计算机断层扫描成像显示胰腺头部有一个边界清晰、不均匀且大体呈囊性的肿块。血清甲胎蛋白（AFP）水平升高。肿瘤被完全切除，组织学分析显示为PB。患者恢复顺利，术后AFP恢复至正常水平。该患儿已无病生存5年，其血清AFP一直保持在正常范围内。文献中还记录了其他6例这种关联病例，即PB与贝克威思-维德曼综合征。当存在半身肥大时，该综合征（完全型和不完全型）发生肿瘤的风险增加，因此有必要进行常规筛查。贝克威思-维德曼综合征被认为是患有腹内肿瘤儿童生存的一个良好生物学标志物。
