本文選題：Crouzon綜合征 + 臨床表現(xiàn)�。� 參考：《吉林大學(xué)》2012年碩士論文

【摘要】：目的： 探討Crouzon綜合征的臨床癥狀、體征、相關(guān)影像學(xué)檢查及FGFR2基因檢測(cè)，并對(duì)其診斷、鑒別診斷及治療進(jìn)行相關(guān)討論總結(jié)。 方法： 分析3例就診于耳鼻咽喉頭頸外科的Crouzon綜合征患者的臨床相關(guān)資料，總結(jié)其影像學(xué)及FGFR2基因檢測(cè)等檢查的特點(diǎn)。同時(shí)對(duì)比分析經(jīng)對(duì)癥手術(shù)治療后的療效。 結(jié)果： ①臨床癥狀：2例主訴為睡眠打鼾憋氣，1例主要癥狀為右耳流膿伴聽(tīng)力下降。②體征：3例查體均見(jiàn)顱縫閉合過(guò)早，頭顱呈舟狀，眼球突出，眼距增寬，下頜骨前突，上下齒呈反咬合，牙齒排列不齊。硬腭呈倒V型。③影像學(xué)特征：3例均可見(jiàn)眼眶變淺，眶距增寬，眼球突出。鼻腔狹窄，鼻咽部軟組織影，硬腭高拱。顱骨內(nèi)板彌漫性深大腦回壓跡。2例見(jiàn)視神經(jīng)管走行迂曲。1例見(jiàn)繼發(fā)小腦扁桃體下疝及脊髓空洞。④基因檢測(cè)：1例為雜合錯(cuò)義突變,其FGFR2基因錯(cuò)義突變: C278F,造成其編碼的第278位氨基酸由半胱氨酸變?yōu)楸奖彼帷?例考慮為基因多態(tài)性, c.696AG，使密碼子GTA變?yōu)镚TG，均編碼纈氨酸。1例檢測(cè)無(wú)明顯FGFR2基因突變。⑤治療方案：1例行全麻下低溫等離子輔助下行雙側(cè)扁桃體切除術(shù)，鼻內(nèi)鏡下腺樣體射頻消融術(shù)，顯微鏡下雙側(cè)鼓膜切開(kāi)術(shù)。1例行全麻下低溫等離子輔助下行雙側(cè)扁桃體切除術(shù)，鼻內(nèi)鏡下腺樣體射頻消融術(shù)，雙側(cè)鼓膜切開(kāi)鼓室置管術(shù)。1例行全麻下顯微鏡下行外耳道膽脂瘤取出術(shù)。⑥術(shù)后隨訪：術(shù)后2例上呼吸道阻塞癥狀得到明顯緩解，1例耳部對(duì)癥治療后聽(tīng)力也明顯提高。1例術(shù)后隨訪1年見(jiàn)患者雙眼球突出略好轉(zhuǎn)，下頜骨前突及上下齒反咬合未進(jìn)一步發(fā)展，整體顱面骨畸形有明顯改善。 結(jié)論： Crouzon綜合征的診斷主要依據(jù)臨床表現(xiàn)及影像學(xué)檢查。由于尚存在與CS有關(guān)的未被發(fā)現(xiàn)的突變基因，遂基因檢測(cè)可作為輔助診斷。此類患者多就診于眼科及頜面外科，對(duì)于耳鼻咽喉頭頸外科醫(yī)生來(lái)說(shuō)，應(yīng)具備相關(guān)知識(shí)儲(chǔ)備，通過(guò)主訴、視診、影像學(xué)資料及基因檢測(cè)等應(yīng)給予早期診斷，避免誤診漏診。CS通過(guò)扁桃體及腺樣體切除改善上呼吸道阻塞癥狀，可有效緩解顱面畸形，同時(shí)改善腦及全身機(jī)體乏氧狀態(tài)，以促進(jìn)腦組織發(fā)育，保障智力發(fā)育，在一定程度上預(yù)防腦水腫發(fā)生。同時(shí)我們應(yīng)注意，，對(duì)于CS的治療應(yīng)采取包括耳鼻咽喉頭頸外科、眼科、頜面外科、正畸科、腦外科及整形科等多學(xué)科協(xié)助綜合治療方案。
[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.
【學(xué)位授予單位】：吉林大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R762

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