The role of continuous subcutaneous insulin infusion therapy in a case of Seip-Berardinelli congenital lipodystrophy

Abstract

• A caucasian-male patient, currently with 21 years-old, was referred at 6-months-age because of “muscular phenotype” and liver function alterations. On examination, muscular appearance with minimal subcutaneous fat (Figure 1) and hepatosplenomegaly were identified. Laboratorial tests revealed abnormalities in 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.