Diabetic Ketoacidosis Can Reveal Mauriac Syndrome: A Case Report

Lufuluabo Serge, Ntalu Nkatu Christophe, Mangyanda kinkembo Laurent, Mbuila Nseka Célestin, Nsibu Ndosimao Célestin, Mandelcwajg Alexix.

Abstract

Background: Mauriac syndrome is a rare but potentially reversible complication of poorly controlled type 1 diabetes mellitus in children and adolescents. It is characterized by hepatomegaly, growth impairment, delayed puberty, and marked elevation of liver enzymes secondary to hepatic glycogen accumulation. We report a case in which diabetic ketoacidosis (DKA) revealed Mauriac syndrome.

Case Presentation: A 15-year-old girl with type 1 diabetes diagnosed at the age of 3 years was admitted for her third episode of DKA related to persistent poor treatment adherence. Since early adolescence, psychosocial difficulties had resulted in recurrent hyperglycemia, repeated DKA episodes, and failure of multiple therapeutic strategies, including continuous glucose monitoring, insulin pump therapy, and psychological support. Clinical examination revealed severe short stature (<−3 SD), Cushingoid features, delayed pubertal maturation, and painless hepatomegaly. Laboratory investigations showed markedly elevated liver enzymes (AST 122 IU/L, ALT 102 IU/L, GGT 244 IU/L), HbA1c of 15%, and exclusion of infectious, autoimmune, and other hepatic disorders. Abdominal ultrasound confirmed homogeneous hepatomegaly without focal lesions. Liver biopsy was not performed. Standard DKA management followed by intensive basal-bolus insulin therapy resulted in rapid normalization of glycemic control, complete resolution of hepatomegaly, and normalization of liver enzymes within two weeks, strongly supporting the diagnosis of Mauriac syndrome.

Discussion: This case highlights Mauriac syndrome as an uncommon but important differential diagnosis in adolescents with poorly controlled type 1 diabetes presenting with DKA and liver dysfunction. Although liver biopsy remains the diagnostic gold standard, the combination of characteristic clinical features, exclusion of alternative etiologies, and complete reversibility following restoration of glycemic control strongly supports the diagnosis. Early recognition is essential because the condition is reversible with optimized insulin therapy and sustained treatment adherence.

Conclusion: Mauriac syndrome should be considered in any child or adolescent with poorly controlled type 1 diabetes presenting with DKA, hepatomegaly, and elevated liver enzymes, particularly when associated with growth or pubertal delay. Prompt restoration of stable glycemic control and multidisciplinary interventions addressing therapeutic adherence are critical to prevent recurrence and improve long-term outcomes.