Liver glycogen storage associated with uncontrolled type 1 diabetes mellitus

Abstract

A 21-year-old female with a 9-year history of brittle type 1 diabetes mellitus was admitted because of hypoglycaemia. She was not an alcohol or drug consumer and was not taking any medication other than insulin. During the last 7 months she had undergone several bouts of right upper quadrant abdominal pain associated with abnormal liver function tests (AST 162 U/l, ALT 140 U/l, GGT 250 U/l, alkaline phosphatase 300 U/l). A tender hepatomegaly was detected on admission. Laboratory tests disclosed hypertransaminasaemia (AST 3679 U/l, ALT 1135 U/l). GGT was 540 U/l, alkaline phosphatase 363 U/l, HbA1C 8.1%, cholesterol 292 mg/dl, and triglycerides 291 mg/dl. Serologic tests for HAV, HBV, HCV, and autoantibodies were all negative. Liver ultrasound examination demonstrated diffuse high echogenicity suggesting a fatty liver. A liver biopsy was performed. Histological examination showed a preserved liver architecture. Hepatocytes exhibited marked cytoplasmic swelling and prominent plasma membranes. Sinusoidal compression by these swollen hepatocytes lent a ‘paved’ appearance to the liver parenchyma. Additionally, numerous liver cells exhibited glycogenized nuclei (left figure; hematoxylin–eosin stain, ×400) and abundant PAS-positive cytoplasmic glycogen deposits (right figure; PAS stain, ×400), which were not visible after digestion with diastase. This clinical picture, caused by liver glycogen storage in a patient with uncontrolled type 1 diabetes mellitus, resembles Mauriac syndrome of children. An intensive insulin treatment resulted in an optimal glycaemia control 7 weeks after admission (HbA1C, 6.7%) and, coincidental with this, all liver function tests, sonographic findings and liver size became normal. This reversible disturbance has been reported in unstable type 1 diabetes mellitus at any age and, exceptionally, in insulin-treated type 2 diabetes mellitus [1Chatila R West A.B Hepatomegaly and abnormal liver test due to glycogenosis in adults with diabetes.Medicine (Baltimore). 1996; 75: 327-333Crossref PubMed Scopus (143) Google Scholar, 2Marangiello R Giorgetti R A case of glycogenosis in a patient with insulin dependent diabetes.Minerva Pediatr. 1996; 48: 279-281PubMed Google Scholar].