Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: A case report

被引：20

作者：

Kitanovski L. ^{[1
]}

Ovcak Z. ^{[2
]}

Jazbec J. ^{[1
]}

机构：

[1] University Medical Centre Ljubljana, Department of Pediatrics, Hematooncology Division, 1000 Ljubljana

[2] Institute of Pathology, Medical Faculty, University of Ljubljana, Korytkova 2

来源：

Journal of Medical Case Reports | / 3卷 / 1期

关键词：

Hepatoblastoma; Intrauterine Growth Retardation; Real Frequency; Horseshoe Kidney; Abdominal Ultrasound Examination;

D O I：

10.4076/1752-1947-3-8319

中图分类号：

学科分类号：

摘要：

Introduction. Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome. Case presentation. The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatoblastoma. The course of the disease, autopsy results and review of the literature are presented. Conclusion. Our case represents the seventh published case of hepatoblastoma in a patient with trisomy 18. All of the seven published cases were women, possibly due to the high preponderance of females among the children with Edward's syndrome and longer survival of females with trisomy 18 compared to males. Since both trisomy 18 and hepatoblastoma are rare conditions, the probability that a child with trisomy 18 will independently develop a hepatoblastoma is very low. Therefore, we believe that the existence of these cases in children with trisomy 18 indicates a significant association. It can be assumed that trisomy 18 potentiates the development of hepatoblastoma. Careful clinical and post-mortem studies are needed to recognize the real frequency of hepatoblastoma in children with trisomy 18, who might die from different causes with unrecognizable hepatoblastoma. © 2009 licensee BioMed Central Ltd.

引用

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