Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types

摘要

Berardinelli-Seip congenital generalized lipodystrophy (BSCL) is characterized by absence of functional adipocytes, thus, lipid is stored in other tissues, including muscle and liver. Classic findings are reduced adipose tissue, muscle hypertrophy, enlarged hands and feet, enlarged external genitalia, hypertriglyceridemia, insulin resistance, hepatomegaly, hypertrophic cardiomyopathy (HCMP), and arrhythmia. Four types have been described. Type 1 (AGPAT2 mutation) and type2 (BSCL2 mutation) have similar clinical features, but type 2 can be associated with mild intellectual disability. Type 3 (CAV1 mutation) is very rare, type 4 is the muscular type with pyloric stenosis, flat and striated muscle involvement, and serious arrhythmia. The index case has been followed until the age of 5.5 years, he had a pyloric stenosis operation and elevated CK as different from our three BSCL type 1 patients (5.5, 7.5, and 12-year-old). Interestingly, a Turkish child with BSCL and achalasia was reported with the same PTRF mutation. All of our patients had hypertriglyceridemia, hepatomegaly, and normal neuromotor development. Acanthosis nigricans, HCMP, enlarged hands and feet, and insulin resistance were present in 2 patients with AGPAT2 mutation.