Endocrine Abstracts

Introduction: Seip–Berardinelli congenital lipodystrophy (SBCL) is an extremely rare autosomal recessive disorder characterized by a congenital absence of adipose tissue. Hepatic steatosis, splenomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, insulin-resistance and diabetes mellitus (DM) are some of the features of these patients.

Case report: A 20-year-old caucasian-male patient was referred to pediatric endocrinology unit at 6-month-age because of liver function alterations. On examination, muscular appearance with minimal subcutaneous fat and hepatosplenomegaly were identified. Laboratorial tests revealed abnormalities in cytolytic and cholestatic liver enzymes; glycemia was normal. Ultrasound exams documented diffuse liver steatosis and hypertrophic cardiomyopathy. The identification of heterozygous BSCL2 gene mutation (p.Pro65ArgfsX28 and p.Thr109AsnfsX5) established the diagnosis of SBCL type 2.

At 7-year-old DM was diagnosed (fasting plasma glucose=182 mg/dl; HbA1C=8.8%; insulin=116.7 mU/l; C-peptide=8.7 ng/ml; and HOMA-IR=52.4). The patient was initially treated with metformin and later at 11-year-old with concomitant insulin. He had always a poor metabolic control, justifying at 16-year-old age (HbA1c=11.5%), the start on continuous subcutaneous insulin infusion (CSII) therapy. A significant improvement was obtained (last evaluation of HbA1c=8.0%). He is currently under metformin (4 g/day) and CSII therapy (daily dose of insulin of 155U).

Conclusion: We report a rare case of lipoatrophic DM in childhood associated with severe insulin-resistance within the context of SBCL. In this setting, DM is frequently difficult to control and the management may involve insulin-sensitizers and exogenous insulin. Although the CSII therapy is normally used in insulin-deficient patients, classically type 1 DM, some insulin-resistant DM patients, as the one reported, may benefit from this therapeutical approach.