Mazabraud 综合征一例

陆国强; 李自强

doi:10.3969/j.issn.2095-252X.2016.03.018

摘要：Objective To investigate clinicopathological characteristics of Mazabraud syndrome by reviewing the data of the ifrst case of the Mazabraud syndrome in China with literature review. Methods We have analyzed the clinical data of a case of hospitalized Mazabraud syndrome patient to clearly diagnose with pathological examination. Result The patient was a 70-year-old male hospitalized for a lump in the left hip for more than half a month. The X-ray iflms of the pelvis, bilateral hip joints and bilateral upper femurs showed soap bubble-like appearance, which are typical ifndings of osteoifbrous dysplasia. The CT scan of whole pelvis showed soap-bubble-like appearance of bilateral ilium, patial sacrum, acetabulum, pubis and ischium. There was a 3-cm-diameter cystic mass in left gluteus max imus muscle, of which CT value was 2 - 7 Hu. Postoperative histopathological examination showed loose arrangement of fusiform ifbrous tissue and immature ifbrous bone, as well as irregular arrangement, English alphabet-shaped tenuity bone trabecula, which was surrounded by a few lfat osteoblasts. This was amyxoma in the left gluteus max imus. Under microscope, the tumor showed clear boundary without capsule. There were much mucus-like substance and few cells. Cells were small, star-shaped and had no speciifcity.Conclusions Mazabraud syndrome is a rare disease, which is deifned as ifbrous dysplasia associated wish intramuscular myxoma. Development of Mazabraud syndrome may be related to the Gsa gene mutation. Pathology plays an important role in diagnosis of Mazabraud syndrome.