Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus

肝糖原沉积症导致1型糖尿病青年患者出现高氨血症

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Abstract

A 19-year-old male individual with poorly controlled type 1 diabetes mellitus (T1DM) of 16 years duration presented with diabetic ketoacidosis (DKA) and was found to have hepatomegaly with disproportionately elevated transaminases, hyperammonemia, and lactic acidosis, which persisted after DKA resolution. Autoimmune, infectious, metabolic, and toxic causes were excluded. Liver elastography demonstrated homogeneous, nonsteatotic, noncirrhotic enlargement. Histology revealed hepatocytes with pale or clear cytoplasm and glycogenated nuclei. Total clinical picture is consistent with Mauriac syndrome-a rare complication exclusively observed in people with T1DM with poor glycemic control, resulting in pubertal and growth delay, cushingoid facies, lactic acidosis, transaminitis, and hyperlipidemia. Although prevalence of suboptimal management of T1DM remains common, even with modern insulin delivery mechanisms, Mauriac syndrome remains rare and poorly characterized. We highlight a severe presentation of Mauriac syndrome and highlight the role of comprehensive assessment of liver dysfunction and imaging.

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