Hashizume K, Nakajo T, Kawarasaki H, Iwanaka T, Kanamori Y, Tanaka K, Utuki T, Mishina J, Watanabe T
Department of Pediatric Surgery, University of Tokyo Hospital, Japan.
Acta Paediatr Jpn. 1991 Dec;33(6):718-22. doi: 10.1111/j.1442-200x.1991.tb02597.x.
A case of Prader-Willi syndrome who later developed hepatoblastoma is reported. Prader-Willi syndrome was suspected because of hypotonia, hypopigmentation, and undescended testes when he was a newborn infant. The diagnosis was confirmed by chromosome analysis, which showed 46XY del(15)(q11, q13). When he was 1 year 4 months old, a liver tumor and high serum AFP were found. At operation a large tumor arising from the caudate lobe was found and the tumor was totally resected. After completion of the hepatectomy, he developed circulatory collapse of unknown cause and died shortly after the operation. Histopathologic examination revealed that the tumor was composed of two components, well differentiated cells and poorly differentiated cells. The well differentiated part did not dominate the poorly differentiated part, so it was diagnosed as poorly differentiated hepatoblastoma. This is the first reported case of Prader-Willi syndrome with a pediatric malignant tumor.
报告了1例普拉德-威利综合征患儿，该患儿后来发生了肝母细胞瘤。患儿新生儿期因肌张力低下、色素减退和隐睾怀疑患有普拉德-威利综合征。经染色体分析确诊，结果显示为46XY，del(15)(q11,q13)。患儿1岁4个月时发现肝脏肿瘤及血清甲胎蛋白升高。手术中发现一个源于尾状叶的巨大肿瘤，遂将肿瘤完整切除。肝切除术后，患儿出现不明原因的循环衰竭，术后不久死亡。组织病理学检查显示，肿瘤由两部分组成，即高分化细胞和低分化细胞。高分化部分并未占主导地位，故诊断为低分化肝母细胞瘤。这是首例报道的患有小儿恶性肿瘤的普拉德-威利综合征病例。
