Stenger R D, Assaf J A, Gaab M R, Werner E, Wiersbitzky H, Wiersbitzky S, Müller P
Department of Paediatrics, Ernst Moritz Arndt University, Greifswald, Germany.
Pediatr Hematol Oncol. 1998 Mar-Apr;15(2):179-85. doi: 10.3109/08880019809167233.
We present the case of a 14-year-old girl suffering from Maffucci's syndrome, a rare ailment belonging to the group of osteochondrodysplasias. At the age of 6 months, a diffuse swelling first appeared in the girl's right cheekbone region and the periauricular area. Because of recurrent meningitis with massive otoliquorrhea, several surgical revisions were performed, beginning at the age of 4 years. The histological and immunohistochemical diagnosis showed hemangioma and lymphangioma with enchondroma. As a peculiarity of our patient's diagnosis, we found multiple bone defects apparently caused by venous and lymphomatous angiomatosis. There was also enchondromatosis of the skull base and the upper cervical vertebrae, which caused the recurrent otoliquorrhea and rhinoliquorrhea. A fistula closure was undertaken through a retromastoidal, suboccipital approach and fascial graft of the posterior cranial fossa.
我们报告了一名14岁患有马富西综合征的女孩的病例，该综合征是一种属于骨软骨发育不良组的罕见疾病。6个月大时，女孩右颧骨区域和耳周区域首次出现弥漫性肿胀。由于反复发生脑膜炎并伴有大量耳漏，从4岁开始进行了多次手术翻修。组织学和免疫组化诊断显示为血管瘤、淋巴管瘤伴内生软骨瘤。作为我们患者诊断的一个特殊情况，我们发现多处骨缺损显然是由静脉性和淋巴瘤性血管瘤病引起的。还存在颅底和上颈椎的内生软骨瘤病，这导致了反复的耳漏和鼻漏。通过乳突后、枕下入路及后颅窝筋膜移植进行瘘管闭合术。
