Imseis EM, Bynon JS, Thornhill C. Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era. World J Hepatol 2017; 9(9): 487-490 [PMID: 28396719 DOI: 10.4254/wjh.v9.i9.487]
Corresponding Author of This Article
Essam M Imseis, MD, Department of Pediatrics, Gastroenterology Division, the University of Texas Health Science Center at Houston, Houston McGovern Medical School, 6431 Fannin St., MSB 3.137, Houston, TX 77030, United States. essam.imseis@uth.tmc.edu
Research Domain of This Article
Transplantation
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Hepatol. Mar 28, 2017; 9(9): 487-490 Published online Mar 28, 2017. doi: 10.4254/wjh.v9.i9.487
Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era
Essam M Imseis, John S Bynon, Chad Thornhill
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
John S Bynon, Department of Surgery, the University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, United States
Author contributions: Imseis EM helped prepare and edit the majority of the manuscript; Thornhill C assisted with editing and preparing the manuscript; Bynon JS assisted with editing and providing insight for the final manuscript.
Institutional review board statement: IRB approval is not required for case reports involving one patient.
Informed consent statement: Informed consent was obtained from the patient and guardian for inclusion in this retrospective case report.
Conflict-of-interest statement: The authors whose names are listed on this manuscript have no affiliations with or involvement in any organization or entity with any financial or non-financial interest in the subject matter or materials discussed in this manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Essam M Imseis, MD, Department of Pediatrics, Gastroenterology Division, the University of Texas Health Science Center at Houston, Houston McGovern Medical School, 6431 Fannin St., MSB 3.137, Houston, TX 77030, United States. essam.imseis@uth.tmc.edu
Telephone: +1-713-5005663 Fax: +1-713-5005750
Received: October 8, 2016 Peer-review started: October 12, 2016 First decision: November 11, 2016 Revised: January 12, 2017 Accepted: February 18, 2017 Article in press: February 20, 2017 Published online: March 28, 2017 Processing time: 167 Days and 8.8 Hours
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.
Core tip: Hereditary tyrosinemia type 1 is a metabolic defect resulting in several disease manifestations including life threatening hepatorenal disease, neurologic disease, and rickets. Although neonatal screening for this disorder has allowed early identification and medical treatment with nitisinone, the need for recognition of this disorder in older individuals remains since aggressive intervention, including medical treatment and possible liver transplantation, may be lifesaving and have profound effects on morbidity and mortality.
