Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome

Abstract

Results Patients 1 and 3 were diagnosed late, by the age of 54 and 43 yrs. respectively. While the second patient was diagnosed earlier at 17th and follows 14 yrs. in treatment. All patients have low body fat on DEXA (Figure 1) and moderate steatosis, but only the Patient 2 has no fibrosis. The patients’ metabolic profile after the treatment is exposed at Table 1. All patients are in use, at least for 2 yrs., of TZD (30 mg/day), MTF (2000mg/day), insulin (2.01 UI/kg±0.36) and atorvastatin (20-40 mg/day ). Only Patients 2 and 3 are in use fibrate because the Patient 1 had CPK elevation with this. Patient 2 fundoscopy showed significant deposition of triglycerides in her retina (Figure 2).