Neurologic and neuroimaging manifestations of Cantu Syndrome A case series
Neurologic and neuroimaging manifestations of Cantu Syndrome A case series
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DOI：
10.1212/wnl.0000000000002861
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发表时间：
2016-07-19
期刊：
影响因子：
9.9
通讯作者：
Vo, Katie D.
中科院分区：
文献类型：
--
作者：
Guerrero, Christopher R. Leon;Pathak, Sheel;Vo, Katie D.
目的：描述与 Cantu 综合征相关的神经系统和神经影像学表现。方法：我们评估了 10 名经基因证实患有 Cantu 综合征的患者。所有能够配合并完成研究的成年患者和儿科患者均接受了神经影像学检查，包括血管影像学检查。所有患者均获得了显着的神经病史和检查结果。结果：我们在所有接受血管成像的患者中观察到弥漫性扩张和迂曲的脑血管。所有完成脑部 MRI 研究的患者均观察到白质变化。两名患者有持续的三叉动脉。一名患者右大脑中动脉闭塞。一名患者出现短暂的白质变化，提示后部可逆性脑病综合征。四名患者患有偏头痛，其中一名患者患有复杂性偏头痛。癫痫发作常见于生命早期，但并不常见。大多数患者有轻度发育迟缓，一名患者被诊断为自闭症。结论：Cantu 综合征与各种神经系统表现相关，特别是脑血管表现，包括脑血管扩张和迂曲、白质变化和持续胎儿循环。 KATP SUR2/Kir6.1 亚型的参与可能在 Cantu 综合征的神经系统表现中发挥重要作用。
Objective: To describe the neurologic and neuroimaging manifestations associated with Cantu syndrome.Methods: We evaluated 10 patients with genetically confirmed Cantu syndrome. All adult patients, and pediatric patients who were able to cooperate and complete the studies, underwent neuroimaging, including vascular imaging. A salient neurologic history and examination was obtained for all patients.Results: We observed diffusely dilated and tortuous cerebral blood vessels in all patients who underwent vascular imaging. White matter changes were observed in all patients who completed an MRI brain study. Two patients had a persistent trigeminal artery. One patient had an occluded right middle cerebral artery. One patient had transient white matter changes suggestive of posterior reversible encephalopathic syndrome. Four patients had migraines with one patient having complicated migraines. Seizures were seen in early life but infrequent. The majority of patients had mild developmental delays and one patient had a diagnosis of autism.Conclusions: Cantu syndrome is associated with various neurologic manifestations, particularly cerebrovascular findings including dilated and tortuous cerebral vessels, white matter changes, and persistent fetal circulation. Involvement of the KATP SUR2/Kir6.1 subtype potentially plays an important role in the neurologic manifestations of Cantu syndrome.