[Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus].
Patients with type 1 diabetes and poor metabolic control can develop hepatomegaly due to intrahepatic glycogen deposition. If these patients also have elevated liver enzymes, dyslipidemia, cushingoid features and delayed growth or sexual maturation, Mauriac syndrome can be diagnosed. This disorder is common and reversible with optimization of insulin therapy. We report three adolescents with type 1 diabetes and a long-standing history of poor glycemic control, who developed hepatomegaly, elevated liver enzymes and dyslipidemia with preserved liver function. One of these patients also had delayed growth and another had hypogonadotropic hypogonadism. Liver ultrasound showed changes suggestive of glycogenosis. In all three patients, optimization of insulin therapy achieved good glycemic control and reversed the manifestations within 2 weeks. The etiology of Mauriac syndrome is controversial since both prolonged hyperglycemia and hyperinsulinization produce glycogen accumulation in the liver. Hypercortisolism (due to ketosis or hypoglycemia) contributes to glycogen storage and also causes growth and sexual maturation delay.
Flotats Bastardas
M
M
Servicio de Endocrinología Pediátrica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, España. 39829mfb@comb.es
Miserachs Barba
M
M
Ricart Cumeras
A
A
Clemente León
M
M
Gussinyer Canadell
M
M
Yeste Fernández
D
D
Albisu Aparicio
María A
MA
Carrascosa Lezcano
A
A
D000293:Adolescent; D002784:Cholesterol / Q000097:blood; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000209:etiology; D006529:Hepatomegaly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage / Q000627:therapeutic use; D007006:Hypogonadism / Q000150:complications; D007328:Insulin / Q000008:administration & dosage / Q000627:therapeutic use; D008099:Liver / Q000000981:diagnostic imaging; D008111:Liver Function Tests; D008297:Male; D009765:Obesity / Q000150:complications; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome; D014463:Ultrasonography
D007004:Hypoglycemic Agents; D007328:Insulin; D002784:Cholesterol