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目的提高对雅克布森综合征(JBS)颅脑影像学表现的认识。方法回顾性分析3例经过基因诊断证实为JBS患者的颅脑MRI表现。结果 JBS的颅脑MRI表现有:空泡蝶鞍,垂体受压形态偏小;大脑体积变小,脑白质减少,脑沟加深;脑回异常;胼胝体发育不良;颅骨畸形,头围较小、颅面比例失调。结论 JBS是一种跟智力发育相关的疾病,大多数患者具有脑结构的异常,结合文献复习发现患者头颅MRI主要表现为空泡蝶鞍、脑白质异常、脑回异常,双侧侧脑室增宽(不对称性)、胼胝体发育不良及颅骨畸形等。
Objective To improve the understanding of craniocerebral imaging findings in Jakobsson’s syndrome (JBS). Methods The brain MRI findings of 3 patients with JBS confirmed by genetic diagnosis were retrospectively analyzed. Results The brain MRI manifestations of JBS were as follows: vacuolar sellae, small pituitary pressure, smaller brain volume, decreased white matter, deeper sulci, abnormal brain back, dysplasia of the corpus callosum, smaller skull deformity, Craniofacial imbalance. Conclusion JBS is a kind of mental development-related diseases. Most patients have brain structure abnormalities. Combined with the literature review, it is found that the main manifestations of head MRI are vacuolar sella, abnormal white matter, abnormal brain back, widened lateral ventricles (Asymmetry), corpus callosum dysplasia and skull deformities.