3例散发CROUZON综合征的临床特征及文献回顾

发布时间：2018-04-14 23:28

本文选题：Crouzon综合征 + 临床表现　；参考：《吉林大学》2012年硕士论文

【摘要】：目的：探讨Crouzon综合征的临床症状、体征、相关影像学检查及FGFR2基因检测，并对其诊断、鉴别诊断及治疗进行相关讨论总结。方法：分析3例就诊于耳鼻咽喉头颈外科的Crouzon综合征患者的临床相关资料，总结其影像学及FGFR2基因检测等检查的特点。同时对比分析经对症手术治疗后的疗效。结果： ①临床症状：2例主诉为睡眠打鼾憋气，1例主要症状为右耳流脓伴听力下降。②体征：3例查体均见颅缝闭合过早，头颅呈舟状，眼球突出，眼距增宽，下颌骨前突，上下齿呈反咬合，牙齿排列不齐。硬腭呈倒V型。③影像学特征：3例均可见眼眶变浅，眶距增宽，眼球突出。鼻腔狭窄，鼻咽部软组织影，硬腭高拱。颅骨内板弥漫性深大脑回压迹。2例见视神经管走行迂曲。1例见继发小脑扁桃体下疝及脊髓空洞。④基因检测：1例为杂合错义突变,其FGFR2基因错义突变: C278F,造成其编码的第278位氨基酸由半胱氨酸变为苯丙氨酸。1例考虑为基因多态性, c.696AG，使密码子GTA变为GTG，均编码缬氨酸。1例检测无明显FGFR2基因突变。⑤治疗方案：1例行全麻下低温等离子辅助下行双侧扁桃体切除术，鼻内镜下腺样体射频消融术，显微镜下双侧鼓膜切开术。1例行全麻下低温等离子辅助下行双侧扁桃体切除术，鼻内镜下腺样体射频消融术，双侧鼓膜切开鼓室置管术。1例行全麻下显微镜下行外耳道胆脂瘤取出术。⑥术后随访：术后2例上呼吸道阻塞症状得到明显缓解，1例耳部对症治疗后听力也明显提高。1例术后随访1年见患者双眼球突出略好转，下颌骨前突及上下齿反咬合未进一步发展，整体颅面骨畸形有明显改善。结论： Crouzon综合征的诊断主要依据临床表现及影像学检查。由于尚存在与CS有关的未被发现的突变基因，遂基因检测可作为辅助诊断。此类患者多就诊于眼科及颌面外科，对于耳鼻咽喉头颈外科医生来说，应具备相关知识储备，通过主诉、视诊、影像学资料及基因检测等应给予早期诊断，避免误诊漏诊。CS通过扁桃体及腺样体切除改善上呼吸道阻塞症状，可有效缓解颅面畸形，同时改善脑及全身机体乏氧状态，以促进脑组织发育，保障智力发育，在一定程度上预防脑水肿发生。同时我们应注意，，对于CS的治疗应采取包括耳鼻咽喉头颈外科、眼科、颌面外科、正畸科、脑外科及整形科等多学科协助综合治疗方案。
[Abstract]:Objective:To investigate the clinical symptoms, signs, imaging examination and FGFR2 gene detection of Crouzon syndrome, and to summarize the diagnosis, differential diagnosis and treatment of FGFR2 syndrome.Methods:The clinical data of 3 patients with Crouzon syndrome in otolaryngology and head and neck surgery were analyzed and the characteristics of imaging and FGFR2 gene detection were summarized.At the same time, the curative effect of symptomatic operation was compared and analyzed.Results:1 Clinical symptoms: 1 the main symptoms of 2 cases were sleep snoring and shortness of breath. The main symptoms were right ear suppuration with hearing decline. 2: 3 cases showed early closure of cranial suture, navicular shape of skull, exophthalmos, widening of eye distance, anterior mandibular process.The upper and lower teeth are oppositely occlusal, and the teeth are not aligned.The imaging features of the hard palate were as follows: 3 cases showed that the orbit became shallow, the orbital distance widened and the eyeball protruded.Narrow nasal cavity, soft tissue shadow of nasopharynx, high arch of hard palate.Diffuse deep cerebral pressure in the internal plate of skull was seen in 2 cases with optic canal traversing. 1 case with secondary cerebellar subtonsillar hernia and 1 case with syringomyelia 4 gene detected as heterozygous missense mutation.The missense mutation of its FGFR2 gene: C278F, which caused the 278-position amino acid coding from cysteine to phenylalanine to be considered as gene polymorphism, c. 696AG. the codon GTA was transformed into GTG. all of them encode valine for detecting no obvious FGFR2 gene processes.Treatment regimen: 1: 1 underwent bilateral tonsillectomy with hypothermia plasma assisted under general anesthesia.Adenoid radiofrequency ablation under nasal endoscope, bilateral tympanic membrane incision under microscope (1. 1) bilateral tonsillectomy under general anesthesia and adenoid radiofrequency ablation (RFA) under nasal endoscope were performed.Bilateral tympanic membrane incision tympanum catheterization .1 cases of external auditory canal cholesteatoma under general anesthesia under microscope 6 postoperative follow-up: 2 cases after the upper respiratory tract obstruction symptoms were significantly alleviated in 1 case of ear after the treatment of hearing is also obviousOne year after operation, the patients with double eyeball exophthalmos improved slightly.There was no further development of mandibular anterior protrusion and superior and inferior teeth reverse occlusal, and the global craniofacial deformity improved significantly.Conclusion:The diagnosis of Crouzon syndrome is mainly based on clinical manifestation and imaging examination.Due to the existence of undiscovered mutation genes associated with CS, gene detection can be used as an auxiliary diagnostic tool.Most of these patients are in ophthalmology and maxillofacial surgery. For otolaryngology, head and neck surgeons, they should have the relevant knowledge reserve, and early diagnosis should be given through chief complaint, visual examination, imaging data and gene detection.To avoid misdiagnosis and misdiagnosis. CS can improve the symptoms of upper respiratory tract obstruction by tonsillectomy and adenoidectomy, which can effectively relieve craniofacial malformation and improve the hypoxic state of brain and whole body, so as to promote the development of brain tissue and protect intellectual development.Prevent brain edema to a certain extent.At the same time we should pay attention to the treatment of CS should include otolaryngology head and neck surgery ophthalmology maxillofacial surgery orthodontics brain surgery and plastic surgery and other multidisciplinary assistance comprehensive treatment.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R762

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