title: Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era.
abstract: Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case illustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.
authors.affiliation: Essam M Imseis, Chad Thornhill, Department of Pediatrics, Gastroenterology Division, the University of Texas Health Science Center at Houston, Houston McGovern Medical School, Houston, TX 77030, United States.
authors.forename: Essam M
authors.initials: EM
authors.lastname: Imseis
authors.affiliation: Essam M Imseis, Chad Thornhill, Department of Pediatrics, Gastroenterology Division, the University of Texas Health Science Center at Houston, Houston McGovern Medical School, Houston, TX 77030, United States.
authors.forename: John S
authors.initials: JS
authors.lastname: Bynon
authors.affiliation: Essam M Imseis, Chad Thornhill, Department of Pediatrics, Gastroenterology Division, the University of Texas Health Science Center at Houston, Houston McGovern Medical School, Houston, TX 77030, United States.
authors.forename: Chad
authors.initials: C
authors.lastname: Thornhill
keywords: Hepatocellular carcinoma; Liver transplantation; Screening; Tyrosinemia