In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events. Cerebral events were classified as thrombosis, haemorrhage, SLE, or \"stroke mimic\" (SM: normal brain imaging or evoking a migraine).
Thirteen patients had a total of 31 acute episodes: 27 cerebral events with 7 SLEs, 4 venous thromboses, 4 haemorrhages (3 associated with thrombosis), 15 SMs at a mean age of 7.7 years; 4 non-cerebral thromboses, one of which included bleeding. A trigger was frequently involved (infection, head trauma). Although sometimes normal at baseline state, factor XI, antithrombin and protein C levels decreased during these episodes. No correlation between haemostasis anomalies and type of acute event was found.
Acute events in PMM2-CDG are not negligible and are associated with haemostasis anomalies. An emergency protocol is proposed for their prevention and treatment (https://www.filiere-g2m.fr/urgences). For cerebral events, brain Magnetic Resonance Imaging with perfusion weight imaging and diffusion sequences, electroencephalogram and haemostasis protein levels guide the treatment: anticoagulation, antithrombin or fresh frozen plasma supplementation, antiepileptic therapy. Preventing bleeding and thrombosis is required in cases of surgery, prolonged immobilization, hormone replacement therapy.
Acute events in PMM2-CDG are associated with abnormal haemostasis, requiring practical guidance.
方法:在这项多中心回顾性研究中,我们评估了临床,放射学,因急性事件住院的PMM2-CDG患者的止血和脑电图数据。脑事件被归类为血栓形成,出血,SLE,或“模仿中风”(SM:正常的大脑成像或引起偏头痛)。
结果:13例患者共发生31次急性发作:27次脑部事件,7次SLE,4静脉血栓形成,4次出血(3次与血栓形成有关),15名平均年龄为7.7岁的SMs;4名非脑血栓形成,其中之一包括出血。经常涉及触发因素(感染,头部创伤)。虽然有时在基线状态下是正常的,因子XI,抗凝血酶和蛋白C水平在这些发作期间下降。未发现止血异常与急性事件类型之间存在相关性。
结论:PMM2-CDG的急性事件不可忽视,并且与止血异常相关。提出了预防和治疗的紧急协议(https://www。filiere-g2m。fr/urgences)。对于大脑事件,脑磁共振成像与灌注重量成像和扩散序列,脑电图和止血蛋白水平指导治疗:抗凝,抗凝血酶或新鲜冷冻血浆补充剂,抗癫痫治疗.手术时需要预防出血和血栓形成,长时间固定,激素替代疗法.
结论:PMM2-CDG的急性事件与异常止血有关,需要实际指导。