期刊论文详细信息
Sao Paulo Medical Journal
Hirschsprung disease and hepatoblastoma: case report of a rare association
Raquel Borges Pinto1  Ana Regina Lima Ramos1  Ariane Nadia Backes1  Beatriz John Dos Santos1  Valentina Oliveira Provenzi1  Mário Rafael Carbonera1  Maria Lúcia Roenick1  Pedro Paulo Albino Dos Santos1  Fabrizia Falhauber1  Meriene Viquetti De Souza1  João Vicente Bassols1  Osvaldo Artigalás1 
关键词: Hirschsprung disease;    Hepatoblastoma;    Intestinal atresia;    Hearing loss;    sensorineural;    Cataract;    Doença de Hirschsprung;    Hepatoblastoma;    Atresia intestinal;    Perda auditiva neurossensorial;    Catarata;   
DOI  :  10.1590/1516-3180.2014.9200311
来源: SciELO
PDF
【 摘 要 】

ABSTRACTCONTEXT: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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License

【 预 览 】
附件列表
Files Size Format View
RO202005130156385ZK.pdf 1802KB PDF download
  文献评价指标  
  下载次数:6次 浏览次数:3次