Han Yong, Wang Hangzhou
Department of Neurosurgery, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou, Jiangsu, 215006, People's Republic of China.
Childs Nerv Syst. 2019 Jun;35(6):1051-1054. doi: 10.1007/s00381-019-04064-9. Epub 2019 Feb 5.
ᅟJaffe-Campanacci is a rare syndrome characterised by axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait spots, associated with some features of neurofibromatosis type 1 (NF1). Cherix et al. and Colby and Saul suggested that Jaffe-Campanacci syndrome (JCS) might be a distinct form of NF1. Intracranial arterial dolichoectasia (IADE) is defined as an increase in the length and diameter of at least one intracranial artery. Affected intracranial arteries are dilated, elongated and sometimes tortuous. But in this rare disease of JCS, neither skull damage nor IADE has been previously reported. Here, we introduce the case of an 11-year-old Chinese girl with IADE, skull damage and features of JCS.
贾菲-坎帕纳奇综合征是一种罕见的综合征，其特征为腋窝雀斑、长骨和颌骨的多发性非骨化性纤维瘤以及咖啡斑，与1型神经纤维瘤病（NF1）的一些特征相关。谢里克斯等人以及科尔比和索尔认为，贾菲-坎帕纳奇综合征（JCS）可能是NF1的一种独特形式。颅内动脉扩张迂曲（IADE）被定义为至少一条颅内动脉的长度和直径增加。受影响的颅内动脉会扩张、延长，有时还会扭曲。但在这种罕见的JCS疾病中，此前尚未有颅骨损伤或IADE的报道。在此，我们介绍一名患有IADE、颅骨损伤且具有JCS特征的11岁中国女孩的病例。
