Hirschsprung disease and hepatoblastoma: case report of a rare association

• Main Authors: Raquel Borges Pinto, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás
• Format: Article
• Language: English
• Published: Associação Paulista de Medicina
• Series: São Paulo Medical Journal
• Subjects: Hirschsprung disease; Hepatoblastoma; Intestinal atresia; Hearing loss, sensorineural; Cataract
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802016000200171&lng=en&tlng=en

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.