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Non-alcoholic steatohepatitis associated with Netherton syndrome.
BMJ Case Reports 2018 November 29
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/m2 ) and had no clinical features of liver dysfunction. A FibroScan 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.
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