Ng Justin Christopher, Appuhamy Chinthaka, Lee Wickly
Department of Neuroradiology, National Neuroscience Institute, Singapore.
BMJ Case Rep. 2018 Jan 12;2018:bcr-2017-222708. doi: 10.1136/bcr-2017-222708.
Case of cerebrofacial arteriovenous metameric syndrome (CAMS) in a 9-year-old boy is described with arteriovenous malformation simultaneously involving the brain and face, with characteristic CAMS type 1 and 2 involvement. This patient demonstrates the wide spectrum of clinical manifestations of CAMS, and in this particular case, the patient exhibits features of hypopituitarism-an association that was not previously described in the literature to our knowledge. Awareness of the underlying embryological abnormality and recognition of resultant clinical and radiological presentations are paramount for diagnosis and treatment.
本文描述了一名9岁男孩患脑颜面动静脉节段性综合征(CAMS)的病例,其动静脉畸形同时累及脑和面部,具有典型的1型和2型CAMS受累表现。该患者展示了CAMS广泛的临床表现,在这个特殊病例中,患者表现出垂体功能减退的特征——据我们所知,这一关联在以前的文献中未曾描述过。了解潜在的胚胎学异常以及认识由此产生的临床和影像学表现对于诊断和治疗至关重要。