Oztürk H, Unsal M, Aydingöz U, Koçak N, Gürakan F
Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey.
Eur J Radiol. 1998 Feb;26(3):284-6. doi: 10.1016/s0720-048x(97)01158-3.
A very rare case of type 1 Gaucher's disease with pseudotumor formation in the right tibia is presented. In addition to the characteristic radiographic finding of distal femoral flaring (Erlenmeyer flask deformity), a lobulated osteolytic area with surrounding sclerosis was seen in the proximal metaphysis of the right tibia. Adjacent to this pseudotumor appearance was an old pathologic fracture and no significant soft tissue swelling was evident, both of these features being reported for the first time in association with Gaucher's disease.
本文报告了一例极为罕见的1型戈谢病，其右胫骨出现假肿瘤形成。除了股骨远端增宽（烧瓶样畸形）这一特征性影像学表现外，右胫骨近端干骺端可见一个伴有周围硬化的分叶状溶骨区。与这种假肿瘤表现相邻的是一处陈旧性病理性骨折，且无明显软组织肿胀，这两个特征均为首次报道与戈谢病相关。
