MR features of angiosarcoma in a patient with Maffucci's syndrome

Maffucci's syndrome is a rare sporadic congenital disorder associated with multiple enchondromas and soft tissue hemangiomas. These bone and soft tissue tumors have the potential of malignant transformation to various histologic types: chondrosarcoma, osteosarcoma, fibrosarcoma, and angiosarcoma. We report a rare case of Maffucci's syndrome with soft tissue angiosarcoma of the leg to illustrate MRI findings with pathologic correlations.     

A "reverse" Maffucci's syndrome: case report and short review of the literature

Maffucci's syndrome is a congenital, non-hereditary mesodermal dysplasia associated with multiple enchondromas and after some years accompanied by hemangiomas. We describe a rare case of "reverse" Maffucci's syndrome in a 42-year-old woman who has suffered from multiple hemangiomas for the last 24 years. The last two years she complained for heel pain. Bone scintigraphic examination showed abnormal findings in the left calcaneal bone. The scintigraphy, radiology and histology findings revealed multiple enchondromas, so the diagnosis was changed into Maffucci's syndrome. After one year, the left calcaneal bone showed sarcomatous transformation.     

Bone changes in the course of a gastrointestinal malabsorption syndrome

The radiological appearance of osseous manifestations in intestinal malabsorption syndromes is described. In our opinion it is possible to eliminate several of the possible clinical differential diagnosis by analysing the bone structure. The results are compared with the literature.     

Kartagener综合征1例

患者女,18岁。自幼体弱,5年前感冒后出现咳嗽,咳黄色粘痰,伴发热,当地诊为支气管扩张,抗炎治疗可好转。此后每年多在冬春季节感冒后发作,5个月前反复发作3次,无胸痛、胸闷、咯血、盗汗等。有慢性副鼻窦炎病史10余年,经常鼻塞,流黄脓涕。查体:智力正常,鼻中隔居中,双侧鼻腔鼻黏膜充血,双侧鼻道有脓涕,双侧额窦、上颌窦区压痛,咽部充血,扁桃体Ⅰ°肿大,双肺呼吸音低,双下肺可闻及水泡音,心尖搏动位于右侧锁骨中线第4肋间,心率80次/min,律齐无杂音,肝脾未扪及。其父母非近亲婚配,家族中无类似病史。影像学表现:胸部正位片见两肺纹理增粗、增多…     

变形综合征一例

患者女,20岁.云南人,第1胎顺产.出生10个月后出现四肢关节皮肤局限性淡黄色斑片状改变,并渐进性增厚、隆起,表面粗糙不平.7岁时发现右侧颜面部逐渐突起,右眼突出、视力下降,且双侧四肢关节皮肤黄褐色硬结逐渐增大并突起.