Hirschsprung disease and hepatoblastoma: case report of a rare association

ABSTRACT CONTEXT: 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. CASE REPORT: 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). CONCLUSION: 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.

背景概述：先天性巨结肠（Hirschsprung disease）是一种肠神经系统（enteric nervous system）发育性疾病，以远端肠道神经节细胞（ganglion cells）缺失为特征，活产儿中的发病率约为1/500000。肝母细胞瘤（Hepatoblastoma）是一种肝脏恶性肿瘤，多发生于6个月至3岁的儿童，患病率为每10万人0.54例。

病例报告：一名在出生后第一周被诊断为肠闭锁的男婴，后续被确诊并发先天性巨结肠。患者同时被诊断为先天性白内障（congenital cataracts）与感音神经性耳聋（sensorineural deafness）。之后患者出现肝脏占位，经证实为肝母细胞瘤，接受了70%肝体积切除术联合新辅助化疗（neoadjuvant chemotherapy）（异环磷酰胺（ifosfamide）、顺铂（cisplatin）及多柔比星（doxorubicin））的治疗方案。

结论：已知先天性巨结肠可与癌症易感综合征相关，肝母细胞瘤也可与某些先天性综合征存在关联，但此前尚未见肝母细胞瘤与先天性巨结肠共发的病例报道。本病例报告了一名同时患有回肠闭锁、先天性巨结肠及双侧先天性白内障的男性患者，后续确诊为肝母细胞瘤。