Miki K, Kawamoto K, Kawamura Y, Matsumura H, Asada Y, Hamada A
Department of Neurosurgery, Kansai Medical University, Osaka, Japan.
Acta Neurochir (Wien). 1987;87(1-2):79-85. doi: 10.1007/BF02076022.
Maffucci's syndrome is a rare, congenital mesodermal dysplasia combined with dyschondroplasia and haemangiomatosis, and there are only about 150 reported cases. This syndrome is often combined with other neoplasms. Our case was associated with goitre, enchondroma of the tuberculum sellae and pituitary adenoma; the latter brought about disturbance of vision. Including ours, four cases of Maffucci's syndrome associated with pituitary adenoma are found in the literature. In the case of Maffucci's syndrome, it is necessary to examine associated disease as well as associated pituitary adenoma and skull base enchondroma, similar to the correlation of von Recklinghausen's disease with acoustic neurinoma.
马富西综合征是一种罕见的先天性中胚层发育异常,合并软骨发育不良和血管瘤病,报告病例仅有约150例。该综合征常与其他肿瘤合并存在。我们的病例合并有甲状腺肿、蝶鞍结节内生软骨瘤和垂体腺瘤;后者导致视力障碍。在文献中发现包括我们的病例在内,有4例马富西综合征合并垂体腺瘤。对于马富西综合征病例,有必要检查相关疾病以及相关的垂体腺瘤和颅底内生软骨瘤,这类似于冯·雷克林豪森病与听神经瘤的相关性。