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Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease.

We aimed to emphasize that the etiology of elevated liver enzymes should clearly be explained in type 1 diabetes mellitus patients.

A 20-year-old male who was on intensive insulin regimen with a history of type 1 diabetes for 11 years was admitted to our hospital with complaints of diarrhea and vomiting for three days. No other chronic diseases or complications of diabetes were present. Physical examination revealed temperature of 37.6 [degrees]C, pulse 138/min, blood pressure 86/40 mmHg, body weight 45 kg, and height of 155 cm, as well as Cushingoid face features and hepatomegaly. Examination of the other systems was unremarkable.

Laboratory findings were as followings: Venous plasma glucose 348 mg/dL, urine ketone 2+, and metabolic acidosis. The patient was managed by diabetic ketoacidosis protocol. The patient had also elevated ALT (167 U/L), AST (184 U/L), GGT (180 U/L), and ALP (140 U/L) levels. Abdominal ultrasonography performed to figure out the elevated liver enzymes showed grade 1 hepatosteatosis and hepatomegaly. Due to history of poorly controlled diabetes, hepatic glycogen deposition was also considered. Liver biopsy demonstrated PAS(+) granules in hepatocytes. We diagnosed the patient as Mauriac syndrome with the findings of growth retardation, poorly controlled diabetes, hepatomegaly, and hepatic glycogenosis. Genetic analysis was performed to exclude congenital glycogen storage disease type-1 (GSD-1). Heterozygous mutation was found in glucose-6-phosphatase (17q21,p.R83C), describing our patient as carrier. Although it is known that the carriers are asymptomatic, we assume that this mutation could contribute to hepatic glycogenosis. Diet and medical therapy were planned.

Hepatomegaly and elevated transaminases in type 1 diabetes patients may be caused by hepatic glycogenosis. In differential diagnosis of Mauriac syndrome, congenital glycogenoses should also be considered.

Omercan Topaloglu (1), Sibel Demiral Sezer (2), Bilgin Demir (3), Abdullah Serkan Yener (4)

(1) Inonu University Faculty of Medicine, Department of Endocrinology, Malatya, Turkey

(2) Izmir Tepecik Training and Research Hospital, Clinic of Internal Medicine, Izmir, Turkey

(3) Recep Tayyip Erdogan University Faculty of Medicine Training and Research Hospital, Clinic of Internal Medicine, Rize, Turkey

(4) Dokuz Eylul University Faculty of Medicine, Department of Endocrinology, Izmir, Turkey

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Author:Topaloglu, Omercan; Sezer, Sibel Demiral; Demir, Bilgin; Yener, Abdullah Serkan
Publication:Journal of Clinical Research in Pediatric Endocrinology
Article Type:Case study
Date:Jun 1, 2017
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