Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).
For a general ... Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).
Kim et al. (2008) described a patient with Berardinelli-Seip congenital lipodystrophy caused by loss of function of the CAV1 gene. Detailed magnetic resonance imaging of the proband confirmed near total absence of both subcutaneous and visceral adipose tissue, ... Kim et al. (2008) described a patient with Berardinelli-Seip congenital lipodystrophy caused by loss of function of the CAV1 gene. Detailed magnetic resonance imaging of the proband confirmed near total absence of both subcutaneous and visceral adipose tissue, with only vestigial amounts in the dorsal subcutaneous regions. In contrast, bone marrow fat was well preserved. So-called mechanical adipose deposits were less severely affected, being reduced in scalp but preserved in the retroorbital region. In the extremities, adipose tissue was preserved in the fingers and the plantar region with some loss of signal intensity. In keeping with the lack of adipose tissue, the proband was also severely insulin resistant and dyslipidemic. In addition, the proband had mild hypocalcemia likely due to vitamin D resistance.
In a patient with Berardinelli-Seip congenital lipodystrophy (BSCL) from a consanguineous Brazilian family, Kim et al. (2008) identified homozygosity for a premature termination mutation in exon 2 of the CAV1 gene (601047.0001). A sister of the proband, who ... In a patient with Berardinelli-Seip congenital lipodystrophy (BSCL) from a consanguineous Brazilian family, Kim et al. (2008) identified homozygosity for a premature termination mutation in exon 2 of the CAV1 gene (601047.0001). A sister of the proband, who carried the mutation in heterozygosity, was morbidly obese, suggesting that haploinsufficiency for CAV1 does not lead to globally impaired accumulation of adipose tissue. The proband's father had hypercholesterolemia and hypertension, with death at age 53 due to myocardial infarction; the heterozygous mother had both hypertension and type 2 diabetes diagnosed in her 40s. However, both heterozygous sibs examined at 18 and 23 years of age had normal metabolic parameters and blood pressure. That the sequence of CAV1 was normal in 3 other BSCL patients without mutation in seipin (606158) or AGPAT2 (603100) suggested that alterations in another gene are responsible for the phenotype in these cases.