Non-alcoholic steatohepatitis associated with Netherton syndrome.

Research paper by Stephanie S Tanner, Atharina A Julai, David Angelo DA Gorard

Indexed on: 21 Dec '18Published on: 21 Dec '18Published in: BMJ case reports


A 21-year-old man with Netherton syndrome underwent investigation of a persistently elevated serum alanine transaminase, detected on routine monitoring. He drank no alcohol, was not diabetic or overweight (body mass index 23 kg/m) and had no clinical features of liver dysfunction. A yielded an elevated result of 9.3 kPa. An ultrasound guided liver biopsy showed histological features consistent with non-alcoholic steatohepatitis, with activity score of 4 and fibrosis stage of 3. The patient was started on vitamin E supplementation and remains under surveillance. © BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.