Child's Nervous System ( IF 1.3 ) Pub Date : 2020-07-02 , DOI: 10.1007/s00381-020-04741-0 Bettina Knie 1, 2 , Nobuhito Morota 2, 3 , Satoshi Ihara 2 , Ikkei Tamada 4
Objective
The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis.
Patient and method
We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis.
Results
The patient’s proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. A second FOA followed by revision tarsorrhaphy further improved eye closure.
Conclusion
Surgical procedures to correct dysplastic features and limit neurological impairment are a worthwhile supportive treatment for improving the quality of life and general condition of patients with MSS.
中文翻译:
马歇尔-史密斯综合症患者的眼眶进展:一例病例报告并复习文献。
目的
本报告旨在记录马歇尔-史密斯综合征(MSS)的临床特征,该综合征是一种极少见的伴有颅骨前突的胚胎发育障碍。
患者和方法
我们在此介绍了一名2岁的MSS女性患者,该患者因多缝颅窦结扎术接受了眶眶前移。
结果
手术后患者的眼球好转,角膜暴露不需要进一步的手术干预。再次FOA,然后进行睑环翻修,进一步改善了眼睛的闭合性。
结论
纠正不典型增生特征和限制神经系统损伤的外科手术程序,对于改善MSS患者的生活质量和一般状况是一种值得支持的治疗方法。