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Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

机译:特纳综合征的小儿多发性脑海绵状畸形

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Turner syndrome (TS; 45,X0) is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield”) chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”), primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging. Highlights ? Multiple cavernous malformations were found in a patient with Turner syndrome. ? Turner syndrome is associated with other vascular disease. ? This shows a possible new association of Turner with vascular malformations.
机译:特纳综合征(TS; 45,X0)是一种相对常见的染色体疾病,与典型的表型柱头有关:身材矮小,蹼状颈部,宽(“屏蔽”)胸部,乳头间距大,肘外翻,卵巢发育不全(“卵巢畸形”) ”),原发性闭经,肾脏异常,手或脚的淋巴水肿以及各种血管异常。 TS患者通常报告心血管系统异常,并且还经常报告影响各种其他器官系统的血管异常。然而,迄今为止,几乎没有关于颅内血管畸形的报道。作者报告了一例TS患者,该患者在影像学上发现了多发性脑海绵状畸形。强调 ?特纳综合征患者发现多发性海绵状畸形。 ?特纳综合征与其他血管疾病有关。 ?这表明特纳与血管畸形可能存在新的联系。

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