Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Skeletal Radiol. 2010 Jun;39(6):589-93. doi: 10.1007/s00256-009-0871-y. Epub 2010 Feb 6.
Systemic hyalinosis is a rare, multisystem, progressive, autosomal recessive disorder of connective tissue characterized by diffuse hyaline deposition in the skin, bone or viscera. Owing to its rarity and initial manifestations that resemble arthrogryposis congenital multiplexa, correct diagnosis can be elusive and often delayed. We present the computed tomography (CT) and whole-body (WB) magnetic resonance (MR) findings in two unrelated children with systemic hyalinosis who came to medical attention because of multiple joint contractures and limitation of motion in early infancy.
系统性玻璃样变性是一种罕见的多系统、进行性、常染色体隐性结缔组织疾病，其特征为皮肤、骨骼或内脏弥漫性玻璃样物质沉积。由于其罕见性和类似于先天性多发性关节挛缩的初始表现，正确的诊断可能难以捉摸，并且经常被延迟。我们介绍了两名系统性玻璃样变性患儿的 CT 和全身（WB）磁共振（MR）表现，他们因在婴儿早期出现多个关节挛缩和运动受限而引起关注。
