Introduction: Mauriac first described a syndrome in 1930 of growth failure, delayed puberty and hepatomegaly in children with type 1 diabetes. This was in the era prior to long acting insulin analogues being available. With the now widespread availability of various insulin analogues and near patient testing to optimise glucose control, this syndrome was presumed to be of historical interest only. There are increasing reports in the literature of the resurgence of this once forgotten clinical entity. We hereby report a case of glycogenic hepatopathy.
Case Report: A 14 year old male type one diabetic with chronic poor glycaemic control (HbA1c 81 mmol/mol) despite intensive multidisciplinary input presented with a one week history of generalised abdominal pain, anorexia and vomiting. Clinical examination revealed a normal BMI with hepatomegaly. Routine liver function tests demonstrated markedly elevated AST (peak 5294 U/l, range 540 U/l), GGT (peak 578 U/l, range 1071 U/l) and ALT (peak 1064, range 441 U/l). Baseline investigations including coagulation, liver autoimmune screen, virology, alpha 1 antitrypsin, copper, iron and metabolic screen were all normal. Abdominal ultrasound revealed a diffusely enlarged and echogenic liver in keeping with fatty infiltration. Oesophagogastroduodenoscopy revealed changes consistent with coeliac disease. He was then referred to a tertiary Liver Unit for further investigation and proceeded to a liver biopsy. This revealed moderate steatosis with glycogenated nuclei in a well glycogenated biopsy in keeping with a diagnosis of glycogenic hepatopathy. Liver function tests improved with increased glycaemic control.
Conclusion: Glycogenic hepatopathy is a rare entity with an elusive pathophysiology. Despite this, a high index of suspicion is warranted in poorly controlled type 1 diabetics who present with abdominal pain, hepatomegaly and elevated transaminases (notably AST). At present, an invasive liver biopsy is necessary for diagnosis. The condition can improve with improved glycaemic control and increased clinical attention from the multidisciplinary team. Research assessing the long term outcomes is warranted.
23 - 25 Nov 2016
British Society for Paediatric Endocrinology and Diabetes