Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones.
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.
Shinya
Takayoshi
T
PET-RI Center, Okayama Kyokuto Hospital, 567-1 Kurata, Okayama 703-8265, Japan. midnight-2007@kyokuto.or.jp
Sato
Shuhei
S
Akaki
Shiro
S
Ogata
Takeshi
T
Kato
Katsuya
K
Tone
Atsuhito
A
Kanazawa
Susumu
S
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology*; D003937:Diagnosis, Differential; D005234:Fatty Liver / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000000981:diagnostic imaging* / Q000473:pathology; D012598:Sclerosis; D014057:Tomography, X-Ray Computed