title: Hirschsprung disease and hepatoblastoma: case report of a rare association.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Raquel Borges
authors.initials: RB
authors.lastname: Pinto
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Ana Regina Lima
authors.initials: AR
authors.lastname: Ramos
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Ariane Nadia
authors.initials: AN
authors.lastname: Backes
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Beatriz John Dos
authors.initials: BJ
authors.lastname: Santos
authors.affiliation: Hospital Nossa Senhora da Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Valentina Oliveira
authors.initials: VO
authors.lastname: Provenzi
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Mário Rafael
authors.initials: MR
authors.lastname: Carbonera
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Maria Lúcia
authors.initials: ML
authors.lastname: Roenick
authors.affiliation: Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Pedro Paulo Albino Dos
authors.initials: PP
authors.lastname: Santos
authors.affiliation: Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Falhauber
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Meriene Viquetti de
authors.initials: MV
authors.lastname: Souza
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: João Vicente
authors.initials: JV
authors.lastname: Bassols
authors.affiliation: Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Osvaldo
authors.initials: O
authors.lastname: Artigalás
mesh_terms: D002386:Cataract / Q000151:congenital; D018197:Hepatoblastoma / Q000150:complications* / Q000000981:diagnostic imaging; D006627:Hirschsprung Disease / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications* / Q000175:diagnosis; D008297:Male