Hirschsprung disease and hepatoblastoma: case report of a rare association

Sao Paulo Medical Journal

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

【 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】

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