Zöller A, Hör G, Köbrich U
Klinik für Nuklearmedizin, J.-W.-Goethe-Universität Frankfurt am Main, FRG.
Nuklearmedizin. 1993 Jun;32(3):156-8.
A 14-year old girl had developed, at the age of 6, a swelling on the left shank. 4 years later, additional tumours appeared. 1990, at the age of 12, she had to be operated because of serious discomfort in the left ankle. The histological diagnosis was haemangioma plus enchondroma. At the age of 14 further haemangiomas developed and in early 1992 she had to undergo another operation of the left thigh. Histologically and immunohistochemically a Mafucci syndrome was diagnosed--a very rare affection belonging to the group of osteochondrodysplasia that usually goes with haemangioma and enchondroma. Radiological, scintigraphic and MTR findings are presented.
一名14岁女孩在6岁时左小腿出现肿块。4年后，又出现了其他肿瘤。1990年，12岁时，因左踝严重不适不得不接受手术。组织学诊断为血管瘤加内生软骨瘤。14岁时又出现了更多血管瘤，1992年初她不得不接受左大腿的另一次手术。经组织学和免疫组织化学诊断为马富西综合征——一种非常罕见的疾病，属于骨软骨发育异常组，通常伴有血管瘤和内生软骨瘤。本文展示了放射学、闪烁扫描和磁共振成像（MTR）的检查结果。
