贝伐单抗治疗1例伴有钙化和囊肿的脑视网膜微血管病患者的神经系统改善

Q4 Medicine Annals of Child Neurology Pub Date : 2022-11-07 DOI:10.26815/acn.2022.00248

Siefaddeen Sharayah, S. Agner, M. Shinawi, D. Rudnick, S. Mar

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摘要

伴有钙化和cyts-1的脑视网膜微血管病（CRMCC1），也称为Coats-plus综合征，是一种常染色体隐性多系统疾病，其特征是小血管闭塞性血管病，主要发生在大脑、眼睛、骨骼和胃肠道。这种情况的临床特征包括产前和产后生长受限、双侧视网膜毛细血管扩张和渗出物、颅内钙化、有时伴有实质囊肿的白质脑病、骨质减少

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Neurological Improvement in a Patient with Cerebroretinal Microangiopathy with Calcifications and Cysts-1 Treated with Bevacizumab

Cerebroretinal microangiopathy with calcifications and cysts-1 (CRMCC1), also known as Coats plus syndrome, is an autosomal recessive, multisystem disorder characterized by obliterative angiopathy of small vessels, primarily in the brain, eyes, bone, and gastrointestinal tract. The clinical features of this condition include prenatal and postnatal growth restriction, bilateral retinal tel-angiectasias and exudates, intracranial calcifica-tion, leukoencephalopathy sometimes associated with parenchymal cysts, osteopenia

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