Batista L L, Mahadevan J, Sachet M, Husson B, Rasmussen J, Alvarez H, Lasjaunias P
Service de Neuroradiolgie Vasculaire diagnostique et thérapeutique, CHU de Bicêtre, Le Kremlin-Bicêtre; France -
Interv Neuroradiol. 2002 Sep 30;8(3):273-83. doi: 10.1177/159101990200800307. Epub 2004 Oct 20.
We describe the case of a three-year-old Danish boy born at term by Cesarean due to cardiac insufficiency in the last trimestre of intra-uterine life for which he is being treated with cardiac drugs. At birth, he was noted to have bilateral ocular malformations on the upper eyelids, and diffuse scalp lipoma and alopecia. Due to the retarded growth (score - 3D) he had a MRI and angiography which demonstrated a high flow fistula on the basilar tip artery and another one on the MCA branch treated by endovascluar approach. Intracranial arachnoid cysts, dysplastic cortex, ventricular enlargement and lipoma were noted too, establishing the diagnosis of Encephalocraniocutaneous Lipomatosis Syndrome, a rare disease, especially in bilateral presentation. To our knowledge this is the first observation of ECCL associated with intracranial pial arteriovenous fistulas.
我们描述了一名三岁丹麦男孩的病例，该男孩足月出生，因宫内生命最后三个月出现心脏功能不全而通过剖宫产出生，目前正在接受心脏药物治疗。出生时，他被发现上眼睑有双侧眼部畸形，头皮弥漫性脂肪瘤和脱发。由于生长发育迟缓（评分 - 3D），他接受了核磁共振成像（MRI）和血管造影检查，结果显示基底动脉尖端有一个高流量瘘管，大脑中动脉（MCA）分支上还有一个，通过血管内介入方法进行了治疗。还发现了颅内蛛网膜囊肿、发育异常的皮质、脑室扩大和脂肪瘤，从而确诊为脑-眼-皮肤脂肪瘤病综合征，这是一种罕见疾病，尤其是双侧发病的情况。据我们所知，这是首次观察到脑-眼-皮肤脂肪瘤病与颅内软脑膜动静脉瘘相关。
