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Hirschsprung disease and hepatoblastoma: case report of a rare association
Raquel Borges Pinto1, Ana Regina Lima Ramos1, Ariane Nadia Backes1
1Hospital da Criança Conceição, Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
Insights
This case report details a rare co-occurrence of Hirschsprung disease and hepatoblastoma in a male infant. The patient presented with intestinal atresia, Hirschsprung disease, congenital cataracts, and sensorineural deafness, later developing hepatoblastoma.
Area of Science:
- Pediatric Oncology
- Developmental Biology
- Gastroenterology
Background:
- Hirschsprung disease is a congenital disorder affecting the enteric nervous system, occurring in about 1 in 500,000 live births.
- Hepatoblastoma is a rare pediatric liver cancer with a prevalence of 0.54 per 100,000, typically affecting children aged 6 months to 3 years.
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.
