PT -期刊文章盟陈孝萱AU - Vijayshree Yadav盟阿丽亚娜之间非盟- Yoon-Jae赵盟Avindra Nath AU -布朗德斯蒙德盟Eli钻石AU -大卫Solit盟兰德尔Woltjer AU -克里斯蒂娜峡山盟杰西维纳AU -艾米丽Garavatti盟麦金农Garrett盟Dhanalakshmi Angappan AU -尤金·尼科尔森TI -神经炎症疾病反应MEK-Inhibitor援助wnl.0000903156.10274 10.1212/01.。d4 DP - 2022年12月05 TA -神经首页病学PG - S16肌力VI - 99 IP - 23补充2 4099 - //www.ez-admanager.com/content/99/23_Supplement_2/S16.2.short 4100 - //www.ez-admanager.com/content/99/23_Supplement_2/S16.2.full所以Neurology2022 12月05;99 AB -客观说明一些神经炎症疾病可能反应最好的抗增殖治疗而不是免疫调节治疗。背景基因组学的诊断医疗设备越来越多地采用耐火neuro-inflammatory疾病。宏基因组下一代测序是用来检测病原体,生殖系基因检测是用来检测先天性免疫系统。基因检测的组织可以识别体细胞突变有针对性的治疗。MEK-inhibitors是一个新兴的治疗RAS / MAPK途径的突变疾病包括一些像neuro-histiocytoses neuro-inflammatory模仿。设计/方法NA。结果原本健康的12岁的小女孩面对1月的复视和头痛。她的哥哥有临床诊断NF1(浅褐色斑点,皮肤纤维瘤)。考试的第三个神经麻痹。MRI显示T2 /天赋hyperintense右颞叶病变,基底神经节,和颈胸线,结节性leptomeningeal增强沿整个脊髓,和右大脑中动脉血管壁的提高。CSF:白细胞6 / mm3淋巴细胞单核细胞的37%(62%),蛋白质133 mg / dL。 She improved with pulse methylprednisolone and maintenance steroids. At 5 months, she developed malignant elevated intracranial pressure with CSF OP >50 cm water, bradycardia, and encephalopathy requiring weekly LPs. Brain biopsy showed astrocytic and microglial activation without significant inflammation. No histiocytes were noted. There was no evidence of neoplasia or infection. She was tried on anakinra. At 6 months, she developed left third nerve palsy and seizures. For weeks, she required daily LPs for intracranial hypertension despite placement of ventriculoperitoneal shunt. Additional treatments included infliximab, steroids, and siltuximab. NGS from brain biopsy identified 2 NF1 mutations (nonsense, splicing). Allele fractions: 6% and 9%. Her mental status and need for frequent LP improved dramatically with trametinib.Conclusions This case illustrates the importance of considering somatic genomic testing of neural tissue even when the neuropathology is not suggestive of a malignancy or histiocytosis as this can inform newer molecularly targeted therapeutic options.

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