Costello syndrome showing moyamoya-like vasculopathy
Costello syndrome showing moyamoya-like vasculopathy
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DOI：
10.1016/j.pediatrneurol.2004.12.010
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发表时间：
2005-05-01
影响因子：
3.8
通讯作者：
Hayasaka, K
中科院分区：
文献类型：
--
作者：
Shiihara, T;Kato, M;Hayasaka, K
本报告描述了一位与烟雾样血管病变相关的科斯特罗综合征患者。他的临床表现是头发稀疏、稀疏和浅色，双侧下垂，耳朵下垂，鼻桥凹陷，鼻球状，短颈，皮肤松弛，有深掌纹和足底皱纹，双侧隐睾症，生长发育迟缓。脑磁共振成像和脑血管造影术显示烟雾病样血管病变。右大腿伸肌表面的皮肤活检显示弹力纤维缩短和断裂。电子显微镜显示弹性蛋白沉积减少。Costello综合征患者可能会损害稳定的弹性纤维系统的形成，建议对这些患者进行脑磁共振成像和磁共振血管成像。(C)2005，Elsevier Inc.保留所有权利。
This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyanaoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients. (c) 2005 by Elsevier Inc. All rights reserved.