• Satoru Hasuike, Yoshinori Ozono, Keisuke Uchida, Souichiro Ogawa, Hotaka Tamura, Naomi Uchiyama, Hiroshi Hatada, Yuri Komaki, Kenichi Nakamura, Hisayoshi Iwakiri, Mitsue Sueta, Kenji Nagata, Toyoki Nishimura, Misayo Matsuyama, Hirotake Sawada, Toshiyuki Oguri, Yuichiro Sato, and Hiroshi Kawakami.
• Faculty of Medicine, Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Miyazaki, Miyazaki, Japan.
• Medicine (Baltimore). 2024 May 31; 103 (22): e38383e38383.

BackgroundNonalcoholic steatohepatitis (NASH) is an important etiology of hepatocellular carcinoma (HCC), and there is no established therapy for this syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD(NET)) is an extremely rare syndrome considered to be life-threatening, with death occurring around 10 years of age. We present the oldest known autopsy case of this syndrome that developed HCC. This case provided important information on not only improving the course of this syndrome, but also understanding the natural history and therapeutic modalities of NASH and HCC.MethodsThe patient was diagnosed with ROHHAD(NET) syndrome in childhood, and liver cirrhosis due to NASH was diagnosed at age 17. HCC was detected at age 20, and embolization and irradiation were performed. At age 21, she died from accidental acute pancreatitis and subsequent liver failure and pulmonary hemorrhage.ResultsRapid onset of obesity, hypoventilation, and hypothalamic disturbance appeared in childhood and was diagnosed as this syndrome. At age 17, liver cirrhosis due to NASH was diagnosed by liver biopsy, and at age 20, HCC was diagnosed by imaging. Transarterial chemoembolization and irradiation were performed, and the HCC was well controlled for a year.ConclusionAt age 21, she died from accidental acute pancreatitis, subsequent liver failure and pulmonary hemorrhage. Autopsy revealed that the HCC was mostly necrotized. This case was valuable not only for other ROHHAD(NET) syndrome cases, but also in improving our understanding of the natural history of NASH and HCC.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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