Journal of pediatric hematology/oncology · 2024
Hepatoblastoma in a 13-Month-old Male With Oculofaciocardiodental Syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kumar Kriti, Prasad Chitra, Masse Diana, Seelisch Jennifer
Аннотация
BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant condition that is typically lethal in males.
OBSERVATIONS: A 13-month-old male patient with OFCD syndrome presented with hepatoblastoma. He received chemotherapy per standard of care and had a surgical resection with few complications. He received sodium thiosulfate for otoprotection and dexrazoxane for cardioprotection. Five years after diagnosis, he remains well and in remission.
CONCLUSIONS: Malignancies have been reported in patients with OFCD syndrome; however, our patient is the only male with OFCD syndrome described with hepatoblastoma. Given the rarity of this condition, malignancy may be part of the spectrum of disease.
OBSERVATIONS: A 13-month-old male patient with OFCD syndrome presented with hepatoblastoma. He received chemotherapy per standard of care and had a surgical resection with few complications. He received sodium thiosulfate for otoprotection and dexrazoxane for cardioprotection. Five years after diagnosis, he remains well and in remission.
CONCLUSIONS: Malignancies have been reported in patients with OFCD syndrome; however, our patient is the only male with OFCD syndrome described with hepatoblastoma. Given the rarity of this condition, malignancy may be part of the spectrum of disease.