Pinto Raquel Borges, Ramos Ana Regina Lima, Backes Ariane Nadia, Santos Beatriz John Dos, Provenzi Valentina Oliveira, Carbonera Mário Rafael, Roenick Maria Lúcia, Santos Pedro Paulo Albino Dos, Falhauber Fabrizia, Souza Meriene Viquetti de, Bassols João Vicente, Artigalás Osvaldo
Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
Hospital Nossa Senhora da Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
Sao Paulo Med J. 2016 Apr;134(2):171-5. doi: 10.1590/1516-3180.2014.9200311. Epub 2015 Oct 9.
Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000.
A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin).
It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.
先天性巨结肠是一种肠道神经系统发育障碍疾病，其特征为远端肠道神经节细胞缺失，发病率约为每50万例活产儿中有1例。肝母细胞瘤是一种肝脏恶性肿瘤，通常发生于6个月至3岁的儿童，患病率为每10万人中有0.54例。
一名男婴在出生第一周被诊断为肠闭锁，随后又被诊断为合并先天性巨结肠。同时还诊断出先天性白内障和感音神经性耳聋。之后肝脏出现肿物，经证实为肝母细胞瘤，通过手术切除70%的肝脏体积并进行新辅助化疗（异环磷酰胺、顺铂和多柔比星）进行治疗。
已知先天性巨结肠可能与易患癌症的综合征有关，肝母细胞瘤也可能与某些先天性综合征有关。然而，此前尚未有肝母细胞瘤与先天性巨结肠同时发生的报道。我们报告了一例男性患者，出生时患有回肠闭锁、先天性巨结肠和双侧先天性白内障，后来被诊断为肝母细胞瘤。
