Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome, caused by alterations in a cluster of imprinted genes located within the chromosome region 11p15.5. Common clinical features are overgrowth, macroglossia, lateralized overgrowth, abdominal wall defects, neonatal hypoglycemia and an increased risk of embryonal tumors, such as hepatoblastomas. Periodic screening for abdominal tumors is recommended. Vascular tumors are uncommon in BWS. Diffuse infantile hepatic hemangiomas (DIHHs) are rare vascular tumors with potentially lethal complications, in particular acquired consumptive hypothyroidism, high‐output cardiac failure, liver failure and abdominal compartment syndrome. We describe a 2‐month‐old patient with hallmark clinical features of BWS and confirmed a genetic diagnosis with mosaic paternal uniparental disomy of chromosome 11p15.5 (UPD[11]pat). The patient developed hepatomegaly and elevated alpha‐fetoprotein (AFP) and was therefore suspected of having a hepatoblastoma. Abdominal echo‐color Doppler and a CT‐scan allowed diagnosis of DIHHs. She was closely monitored and underwent treatment with propranolol. Oral propranolol was effective in reducing hepatic lesions without side effects. This report may suggest that vascular tumors can also be associated with BWS.

中文翻译：

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Beckwith-Wiedemann综合征患者的弥漫性婴儿肝血管瘤：新的关联？

Beckwith–Wiedemann综合征（BWS）是一种过度生长综合征，由位于染色体区域11p15.5内的一系列印迹基因的改变引起。常见的临床特征是过度生长，大舌症，横向过度生长，腹壁缺损，新生儿血糖过低和胚胎肿瘤（例如肝母细胞瘤）的风险增加。建议定期筛查腹部肿瘤。血管肿瘤在BWS中并不常见。弥漫性婴幼儿肝血管瘤（DIHH）是罕见的血管瘤，具有潜在的致命并发症，尤其是后天性消耗性甲状腺功能减退症，高输出心力衰竭，肝衰竭和腹腔综合征。我们描述了一个具有BWS标志性临床特征的2个月大患者，并通过11p15染色体的镶嵌父本单亲二体性证实了遗传诊断。5（UPD [11] pat）。该患者发展为肝肿大和甲胎蛋白（AFP）升高，因此被怀疑患有肝母细胞瘤。腹部回声彩色多普勒和CT扫描可以诊断DIHH。她受到严密监测，并接受普萘洛尔治疗。口服普萘洛尔可有效减少肝脏病变，且无副作用。该报告可能提示血管肿瘤也可能与BWS有关。