Hirschsprung disease and hepatoblastoma: case report of a rare association

• Autor(a) principal: Pinto,Raquel Borges
• Data de Publicação: 2016
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: São Paulo medical journal (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802016000200171
• topic: Hirschsprung disease; Hepatoblastoma; Intestinal atresia; Hearing loss, sensorineural; Cataract

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.