颅底凹陷症误诊为鼻咽癌1例

2020-08-31 11:39:23 中国当代医药 2020年21期

阮庆蓉 古利明 王福平

[摘要]顱底凹陷症是指枕骨大孔为主的周围颅底骨组织陷入颅腔,导致枕骨大孔狭窄,引起脑干、延-颈髓、小脑、颅神经及周围血管受压而出现临床表现的常见颅颈区畸形。目前尚未明确其发病机制,多认为与胚胎发育异常有关,分型依据较多,根据病因可分为原发性和继发性。该病潜伏期长、隐匿性强,发病初期可无明显症状,随着年龄增长,骨结构发生变化后出现临床症状。临床表现以神经压迫症状为主,也可伴有特征性外貌。目前诊断主要依靠X线平片、CT及磁共振成像(MRI)等影像学表现,对疑有颅底凹陷症患者应首选MRI检查。若患者无明显临床症状,可选择保守治疗,定期随诊,但出现临床症状时,必须尽快行手术治疗解除压迫。本文分享1例以吞咽困难为首发症状的误诊病例,通过对颅底凹陷症近年相关知识的回顾学习,对此例误诊做出分析讨论,加深对颅底凹陷症的认识,并提高临床警惕性,争取对疾病早诊断、早治疗。

[关键词]枕颈畸形;颅底凹陷症;吞咽困难;误诊

[中图分类号] R683.5          [文献标识码] A          [文章编号] 1674-4721(2020)7(c)-0186-04

A case of skull base invagination misdiagnosed as nasopharyngeal carcinoma

RUAN Qing-rong   GU Li-ming▲   WANG Fu-ping

Department of Critical Care Medicine, the Sixth Affiliated Hospital of Kunming Medical University (Yuxi People′s Hospital), Yunnan Province, Yuxi   653100, China

[Abstract] Skull base invagination is a common malformation in the craniocervical region. It refers to the bone tissue of skull base surrounding the occipital foramen invaginated into the cranial cavity, leading to stenosis of occipital foramen, causing brainstem, medulla oblongata and cervical spinal cord, cerebellum, cranial nerve and peripheral blood vessels to be compressed, and then clinical manifestation will appear. Currently, its pathogenesis has not been clarified, but abnormal embryonic development is mostly considered. There are many types of classifications. It can be divided into primary disease and secondary disease according to the etiology. The disease has a trait of long incubation period and strong concealment. There may be no obvious symptoms at the initial stage of the disease. With the increase of age, the clinical symptoms occur after the bone structure changes. The clinical manifestations are mainly nerve compression symptoms, and characteristic appearance can be accompanied. Currently, the diagnosis mainly depends on imaging findings such as plain radiographs, CT and magnetic resonance imaging (MRI). For patients with suspected skull base invagination, MRI should be preferred. If the patient does not have obvious clinical symptoms, conservative treatment and regular follow-up visits are necessary. However, when clinical symptoms occur, surgery must be performed as soon as possible to alleviate the compression. In this paper, we shared a case of misdiagnosis with dysphagia as the first symptom. Through a retrospective study of recent years′ knowledge related to skull base invagination, this misdiagnosis is analyzed and discussed to deepen the understanding of the skull base invagination and improve clinical vigilance. Hopefully early diagnosis and early treatment of the disease can be achieved.

2.4鉴别诊断

顱底凹陷症的症状及体征无特异性,且因压迫部位及程度不同,临床表现多样化,应进一步与后颅窝或枕骨大孔区占位、脊髓空洞症(可与颅底凹陷症合并存在)、多发性硬化以及脑干、小脑、脊髓损伤等引起的疾病相鉴别,而鉴别的重要依据是典型的影像学表现。

2.5治疗

若患者无压迫症状,可选择保守治疗,定期复查;一旦出现症状时,手术是唯一治疗方法。治疗目的是解除神经压迫,缓解神经压迫症状,维持枕颈区稳定,而手术方式则应根据患者的临床表现、影像学特点、全身基础情况以及外科医生经验进行个体化选择[2,18-19]。目前在颅底凹陷症的手术方式上存在许多争议。手术方式不同,手术入路也不同,也有各自的适应证及优缺点,经口咽入路可以用于颅颈区腹侧受压患者;后正中入路用于后侧受压明显,解除神经压迫症状;而后外侧入路由于技术要求较高,目前开展较少,可以用于前后侧均明显受压患者[20]。随着医学的发展,微创、内镜技术不断普及,也有许多学者将内镜技术应用到颅底凹陷症的手术治疗中,使得手术创伤小、恢复快,但颅底凹陷症手术复杂,内镜技术的广泛开展还仍重而道远。

3讨论

3.1误诊分析

回顾此病例,颅底凹陷症诊断明确,初步分析,该患者属于原发性,为先天发育异常,已出现颈神经根脊髓征(双侧肢体麻木、无力)、后组颅神经损害(吞咽困难、饮水呛咳)、上位颈髓及延髓损害(锥体束征、吞咽及呼吸困难等)等枕骨大骨区综合征。

该例患者临床表现无特异性,但此次误诊,很大程度是忽略了许多提示性信息,如病史中有四肢乏力、麻木,入院CT提示“脑积水”,查体有双侧Babinski征等阳性发现。通过对颅底凹陷症的定义、发病机制、临床表现以及诊治等进行回顾,加深了对本疾病的了解。鼻咽癌与颅底凹陷症在疾病的进展中都可能出现吞咽困难、呼吸困难等症状,但两者发病部位及发病机制截然不同,手术治疗方案也存在根本性差异,对本病的认识不足以及盲目依赖辅助检查,是造成本病误诊的主要原因,应从此病例中吸取教训,避免因误诊耽误患者的最佳治疗时机。

3.2小结

本病例值得反思,临床工作中,对于诊治过程中任何阳性发现,都要予以重视,应整体分析病史,拓宽思路,进一步明确当前诊断是否正确或是否存在合并症,不应该被习惯性思维所局限,更不能主观臆断、盲目下结论;同时,医师也不能过度依赖辅助检查,应该持有批判性、辩证思维,对临床资料应该客观、全面综合分析,才能对疾病做出正确诊断。遇到误诊或漏诊的病例时,应该及时总结分析、吸取经验教训,才能不断提升自己,争取对疾病早诊断、早治疗。

[参考文献]

[1]文同龙,徐兆万,孙丽媛.颅底凹陷症分型的再研究及临床意义[J].潍坊医学院学报,2016,38(3):166-169.

[2]汤四昌,盛伟斌.颅底凹陷症的外科手术治疗[J].中华临床医师杂志(电子版),2012,6(21):290-291.

[3]Goel A,Bhatjiwale M,Desai K,et al.A study based on 190 surgically treated patients[J].J Neurosurg,1998,88(6):962-968.

[4]Menezes AH,VanGilder JC,Graf CJ,et al.Craniocervical abnormalities. A comprehensive surgical approach[J].J Neurosurg,1980,53(4):444-455.

[5]Smoker WR,Khanna G.Imaging the craniocervical junction[J].Childs Nerv Syst,2008,24(10):1123-1145.

[6]王建华,尹庆水,夏虹,等.颅底凹陷症的分型及其意义[J].中华脊柱脊髓杂志,2011,21(4):290-294.

[7]Goel A.Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation[J].J Neurosurg Spine,2004,1(3):281-286.

[8]张秋航,严波,郭宏川,等.内镜经口入路齿状突切除治疗颅底凹陷[J].中国微侵袭神经外科杂志,2014,30(7):658-662.

[9]郑虎林,陈晨.35例颅底凹陷症治疗体会[J].实用心脑肺血管杂志,2014,22(9):122-123.

[10]袁慧敏,武春明,刘佳欢,等.颅底凹陷症的临床研究进展[J].中医正骨,2016,28(12):42-45.

[11]贾建平,陈生弟.神经病学[M].7版.北京:人民卫生出版社,2013:405-406.

[12]叶菲,杨烜,胡银,等.颅底凹陷症1例报告及文献综述[J].中国伤残医学,2014,22(2):318.

[13]白民学,邱成林,刘俊.颅底凹陷症的磁共振成像诊断及分型[J].实用医学影像杂志,2018,19(4):364-366.

[14]刘鑫,孙兆忠.颅底凹陷症影像学特点及手术策略研究进展[J].滨州医学院学报,2017,40(4):291-293.

[15]张宗宝,潘文,张锦祥.X线平片、MRI对颅颈交界部畸形的诊断价值[J].罕少疾病杂志,2009,6:26-27.

[16]郭团茂,曹伟宁.伴颈髓损伤的颅底凹陷合并颅颈交界区多发混合畸形1例[J].疑难病杂志,2018,17(5):522-523.

[17]王泽忠,杨广夫,鱼博浪,等.颅底凹陷症的MR诊断[J].实用放射学杂志,1995,2:77-79.

[18]程飞.复杂颅底凹陷畸形的手术治疗体会[J].医药论坛杂志,2012,33(4):75-76.

[19]郑虎林,陈晨.不同手术方式在寰枕畸形合并颅底凹陷治疗中的应用效果观察[J].现代诊断与治疗,2016,27(2):262-263.

[20]吕超亮,宋跃明.颅底凹陷症外科手术治疗的手术入路研究进展[J].现代诊断与治疗,2011,26(3):467-470.

(收稿日期:2019-12-24)

[作者简介]阮庆蓉(1994-),女,云南临沧人,昆明医科大学2017级内科学(呼吸内科)在读硕士研究生,研究方向:重症肺炎、急性呼吸窘迫综合征、感染性休克等危重急症以及呼吸科常见多发病

▲通讯作者:古利明(1966-),男,云南玉溪人,硕士,主任医师,云南省玉溪市人民医院重症医学科科主任,擅长呼吸系统疑难杂症及呼吸危重症的诊断救治工作