Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is a rare autosomal recessive disorder associated with osteosclerosis and cystic intramedullary bone lesions. However, the transition from generalized osteosclerosis in the young patient to the development of cystic intramedullary bone lesions in areas converting from red to yellow marrow in the growing child has not been previously described. We present a young man with congenital generalized lipodystrophy, followed in our clinic from age 5 years through age 14 years, and document the development over time of dramatic cystic lesions within previously sclerotic long bones. The location of these intramedullary bone cysts appears to mirror the transition of red (hematopoietic) to yellow (fatty) marrow in the maturing child. Recognition of this pattern may affect recommended physical activity and subsequent orthopedic management. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Miller Stephen, Scrugham Jeffrey, Pivnick Eniko

Keywords: lipodystrophy, bone cyst, marrow