JBJS | Membranous Lipodystrophy : A Case Report

The Journal of Bone & Joint Surgery, Volume 84, Issue 4

Case Reports | April 01, 2002

Membranous Lipodystrophy : A Case Report

Sam Sami, MD; George Liu, MD; Francis Hornicek, MD, PhD; Justin M. Cates, MD, PhD; Henry J. Mankin, MD

The Journal of Bone & Joint Surgery. 2002; 84:630-633

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Extract

Membranous lipodystrophy is a rare entity originally described in 1968 by Jarvi et al. ¹ and subsequently by Nasu et al. ² in Japan and by Hakola and Puranen ³ in Finland. The disease appears most commonly in the Japanese and Scandinavian populations and is rare in other countries ^4,5 . The disorder appears to be transmitted as an autosomal recessive trait and has a pathologic pattern that is virtually diagnostic ^2,5-7 . Patients with the disease present with progressive cystic lesions of the bones, occurring symmetrically primarily in the lower extremities and mainly affecting the ankles and knees8. The osseous changes are associated with the development of a progressive neuropsychiatric disorder with striking changes in brain structure and a markedly abnormal pattern on magnetic resonance imaging ^3,9,10 . Patients become demented, show progressive memory loss, and usually die within ten years after the onset of disease ^6,10,11 .

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membranous lipodystrophy ; tibia

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These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.

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