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Hepatoblastoma in a patient with methylmalonic aciduria
Author(s) -
Chan Randall,
Mascarenhas Leo,
Boles Richard G,
Kerkar Nanda,
Genyk Yuri,
Venkatramani Rajkumar
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36925
Subject(s) - hepatoblastoma , methylmalonic aciduria , medicine , methylmalonic acid , homocysteine
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19‐month‐old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5‐fluorouracil and vincristine. He developed metabolic acidosis and hyperglycemia during chemotherapy. In addition, he developed anemia, thrombocytopenia and febrile neutropenia. He underwent a combined liver‐kidney transplant for local control of his tumor and to treat MMA. He remains in remission more than five years after his transplant. In addition, his transplant has cured his MMA and he is able to tolerate a regular diet without developing metabolic crises. © 2015 Wiley Periodicals, Inc.