İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Genetics, İstanbul, Turkey**
İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Gastroenterology, İstanbul, Turkey***
Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey
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.
A male infant, who had pyloric stenosis operation, was referred to our department because of developmental hip dysplasia, HCMP, and hepatomegaly. He had reduced adipose tissue, muscular hypertrophy, elevated CK values (1000 IU/L) and normal EMG results. The diagnosis was BSCL.
The identification of homozygous PTRF mutation verified the diagnosis of BSCL type 4.
Because insulin resistance has been described even in the infantile period, BSCL must come to mind in cases with pyloric stenosis and high CK values.