PDF(Pubmed)
Abstract：
The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have life-threatening cardiac or other severe defects. Due to the prematurity of our patient and the defects associated with Edwards syndrome, the child required constant multidisciplinary care, but Edwards syndrome itself was not a reason to discontinue therapy for a malignant neoplasm of the liver. Regular abdominal ultrasound examination, along with AFP testing, may be helpful in the early detection of liver tumors in children with Edwards syndrome.
摘要：
爱德华兹综合症的马赛克形式影响了所有爱德华兹综合症儿童的5％。临床表型是高度可变的，从18三体的全谱到正常表型。本出版物的目的是介绍一个18个月大的女孩的治疗过程，该女孩患有爱德华兹综合征和肝母细胞瘤的马赛克形式，在迄今为止描述的同时发生这种综合征和肝母细胞瘤的其他病例的背景下。看来，这组特殊的肝母细胞瘤和爱德华兹综合征患者可以有良好的结果，只要他们没有危及生命的心脏或其他严重缺陷。由于我们患者的早产和与爱德华兹综合征相关的缺陷，孩子需要持续的多学科护理，但爱德华兹综合征本身并不是停止肝脏恶性肿瘤治疗的理由.定期腹部超声检查，随着AFP测试，可能有助于早期发现患有Edwards综合征的儿童肝脏肿瘤。
