Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse...

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is also referred to as Berardinelli-Seip syndrome. It is characterized by a lack of adipose tissue throughout the body from birth, muscular hypertrophy, advanced bone age, fatty liver, and insulin resistance. We describe computed tomography (CT) and magnetic resonance findings for a 35-year-old woman with CGL. Multiple nodular, well-defined regions of fatty infiltration of the liver are rare and have never been previously reported in a patient with lipodystrophy. To our knowledge, this is the first report describing CT findings of bone sclerotic changes associated with CGL.