Adult Presentation of a Complete Second Branchial Cleft Fistula Diagnosed by US and CT, Autosomal Dominant Transmission in Three Members of the Family: Case Report

Branchial arch anomalies can arise from the four first branchial arches, but the most encountered cases are from the second one. Second branchial arch cysts and abscesses occur mainly in older children or young adults while fistulae are discovered in young children. We report a case of complete second branchial arch fistula of Bailey III type with adult complaints of painful swelling and local reddishness followed by spontaneous discharge and disappearance of complaints. Diagnosis was based on ultrasound and confirmed by CT scan, with the classic “beak sign” visible on both exams. Three cases were encountered in the family, with no otologic or kidney symptoms, which is quite different from the classical branchiootorenal syndrome which associates severe inner ear and kidney congenital anomalies.

Resection of recurrent third branchial cleft fistulas assisted by flexible pharyngotomy

BACKGROUND Treatment of fistulas arising from the third branchial cleft includes endoscopic cauterization or open cervical fistulectomy.Both approaches are associated with recurrence rates of 14%-18%,and possibly greater rates when the fistula has been treated operatively beforehand.Treatment of fistulas arising from the third branchial cleft is associated with an inordinate recurrence rate.Recurrence may be multifactorial and related to incomplete resection of all of the anatomical elements of the fistula.AIM To present a new approach that involves complete resection of the recurrent fistula by a combined therapeutic approach.METHODS Here,12 adult patients diagnosed with recurrent third branchial cleft fistulas underwent a combined therapy assisted by flexible fiber-optic pharyngoscopy to identify and resect the entry site of the fistula into the pyriform sinus.The fistulous opening into the pyriform sinus was identified by flexible fiber-optic pharyngoscopy.The application of intubation with a guidewire by pharyngoscopy,in addition to the removal of the partial excision of the thyroid cartilage,allowed complete resection of the opening and all parts of the fistula tract.RESULTS All of the internal openings of the fistulas in the pharynx were found and easily identified by flexible fiber-optic pharyngoscopy.All of the 12 patients underwent complete resection of the recurrent fistula by the combined therapeutic approach.There were no postoperative complications such as parapharyngeal abscess or wound infection,injury or dysfunction of the recurrent laryngeal or superior laryngeal nerves.The pharyngeal edema had degraded,and the pharyngeal wound healed postoperatively within 1 wk.Laryngeal endoscopy and voice analysis were performed on the 14th d post-operatively.Vocal cord movements did not change.The characters of voice for jitter,shimmer,and normalized noise energy were all within normal limits.In addition,no recurrences were observed during the 13-60 mo follow-up period.CONCLUSION It can be concluded that the proposed combined therapy is associated with excellent results,minimal morbidity,and no recurrence.

Thyroid Papillary Carcinoma in a Branchial Cleft Cyst—A Case Report

Objective: Report a rare case of a thyroid papillary carcinoma situated within a branchial cleft cyst. Case presentation: A 40-year-old male was referred to our department for a lateral neck mass assessment. Physical examination revealed a solitary palpable, painless, moveable neck mass. Assessment included complete nasal, pharynx and larynx endoscopy, neck computed tomography, and fine needle aspiration biopsy. Treatment was surgical excision of the neck mass. Histopathology confirmed a branchial cleft cyst with papillary thyroid carcinoma growth at a site. A neck and thyroid ultrasound showed presence of thyroid gland nodules (one of which with micro calcifications). Thyroid fine needle aspiration biopsy performed, was high suspicious for malignancy (BETHESDA V). Patient underwent total thyroidectomy and histopathology revealed papillary thyroid carcinoma. Conclusion: Although rarely, it is possible to face an unexpected malignancy within a clinically benign neck lesion. A thorough diagnostic work-up enables early identification of aforementioned potential malignancy. A diagnostic dilemma that arises in such cases is between primary or metastatic disease and a thyroid carcinoma arising from ectopic thyroid tissue.

First branchial cleft cyst accompanied by external auditory canal atresia and middle ear malformation:A case report

BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the intraoperative findings.CASE SUMMARY A 19-year-old male patient presented to our department with a mass behind the right earlobe and recurrent postauricular swelling and pain since childhood,he also had severe hearing loss in the right ear since birth.The patient underwent surgery including mass removal,mastoidectomy,and simultaneous meatoplasty and ossiculoplasty under microscopy.No facial palsy or recurrence was noted during postoperative follow-up.CONCLUSION FBCAs are rare,and to our knowledge,this is the first report of FBCA accompanied by external auditory canal bony atresia,middle ear malformation,and location malformation of the facial nerve.An effective postauricular approach under microscopy facilitated complete lesion removal and simultaneous otologic reconstruction.

Dlx2 over-expression:a possible mechanism for first branchial arch malformation

The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases to be multifactorial,involving both genetic and enviromental factors.Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch.The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM.Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs),which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues.Furthermore,Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice.So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage,or migrating to an incorrect position and can't differentiate into normal tissues.What an exact role of Dlx2 over-expression in FBAM remains to be investigated and Dlx2 over-expression transgenic mouse will be a nice model for further research in FBAM.

低温等离子治疗儿童鼻咽部第二鳃裂囊肿分析

目的探讨儿童鼻咽部第二鳃裂囊肿的临床特征和治疗方式,提高诊治能力。方法回顾性分析河北省儿童医院收治的4例儿童鼻咽部第二鳃裂囊肿的临床资料,包括年龄、性别、症状、影像学资料和治疗过程。总结分析病变部位特点,B超、CT或MRI特征,术后病理结果及治疗方式。结果4例鼻咽部第二鳃裂囊肿患儿均表现为鼻咽侧壁咽鼓管咽口与腭咽弓后上方连线上的囊性肿物,囊壁较厚,影像学检查结果均为囊性病变。4例患儿选择内镜下低温等离子病变切除术,其中2例为内侧囊壁大部分切除术,将囊腔充分敞开,2例为囊肿全部切除术。术后病理提示衬覆纤毛柱状上皮或复层上皮,周围淋巴组织增生。术后随访1.5~3年无复发。结论儿童鼻咽部第二鳃裂囊肿临床罕见,诊断主要依靠病变部位及术后病理结果,内镜下低温等离子切除病变组织是微创、安全、有效的治疗方式。

支撑喉镜辅助颈部开放手术治疗12例第四鳃畸形的临床分析

目的 探讨第四鳃裂畸形的诊断要点、手术经验及疗效。方法 回顾性分析2014年4月~2021年2月我科于支撑喉镜辅助下颈部开放手术治疗的第四鳃裂畸形12例,总结其临床特点、手术发现、术后并发症及预后。结果 所有病例均于术前及术中确诊。10例为第四鳃裂瘘管,均发生于左侧;2例为第四鳃裂窦道,均发生于右侧。术前确诊10例(83.3%),瘘口位于梨状窝尖内;术中支撑喉镜检查确认梨状窝尖内瘘口11例(91.7%)。所有患者的颈部病变均可追踪至甲状软骨下角及环甲间隙附近。11例一期完整切除病变。所有患者围手术期均未出现声音嘶哑。1例患者术后1年复发,乃因首次手术未找到梨状窝尖内瘘口,再次手术发现梨状窝尖内瘘口而完整切除,随访4年未再复发。结论 全麻下行梨状窝支撑喉镜检查,是诊断第四鳃裂畸形的可靠方法,支撑喉镜辅助颈部开放手术是根治第四鳃畸形的有效方法。

Clinical analysis of first branchial cleft anomalies in children

Importance:First branchial cleft anomaly (FBCA) is a rare disease that is difficult to diagnose and is associated with a high rate of complications.However,the difference between two types of FBCA and how to avoid complications are not clear enough.Objective:We retrospectively analyzed type Ⅰ and Ⅱ (Work's classification) FBCAs in children to demonstrate the difference between the two types of FBCAs,especially with respect to understanding the relationship between FBCAs and the facial nerve.Methods:We retrospectively reviewed patients with FBCAs who were treated in Beijing Children's Hospital from 2013 to 2017.The patients' clinical data,relationship of the FBCA with the facial nerve,and postoperative complications were recorded.Results:The study included 70 patients with FBCAs.In total,41 (58.6%) patients had a type Ⅰ FBCA,and 29 (41.1%) had a type ⅡFBCA.A cystic mass was present in 34 (48.6%) patients.Sixty-two (88.6%) patients had a history of incision and drainage and nine (12.8%) had a history of excision surgery in other hospitals.The accuracy rate of magnetic resonance imaging was higher than ultrasound and much higher than computed tomography.Thirtyeight (92.7%) type Ⅰ FBCAs had no close relationship with the facial nerve.The facial nerve in 14 (48.3%) patients with type Ⅱ FBCAs was located superficial to and above the mass.Fifteen (51.7%)type Ⅱ facial nerves were located on the deep side of the mass.All patients in the study had an abnormal external auditory canal (EAC).Three patients had temporary facial palsy that resolved within one week.Eleven patients with type Ⅰ FBCAs had mild EAC stenosis.No recurrence was observed.Interpretation:Type Ⅱ FBCAs had a close relationship with the facial nerve,especially when the lesion was located in the mandible angle.All patients with FBCAs had an EAC abnormality.The abnormal skin and cartilage of the EAC should be excised together to avoid recurrence.

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing

Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis.

成人鳃裂畸形患者临床分析

目的探讨成人鳃裂畸形的临床特征、检查手段及疗效。方法回顾性分析2011年11月~2021年12月宁波大学附属第一医院手术的25例成人鳃裂畸形患者,分析治疗疗效及术后并发症情况。结果成人鳃裂畸形男女比例为7∶18,病程(113.92±154.20)个月。囊肿型16例,瘘管型9例。第一鳃裂来源5例,第二鳃裂来源17例,第三鳃裂来源3例。就诊于耳鼻咽喉头颈外科18例、口腔科6例、甲状腺外科1例。MRI检查可显示病变及走行。术后复发7例(28%),其中囊肿型者1例,瘘管型者6例。3例累及腮腺、面神经;2例累及同侧甲状腺、颈鞘、喉返神经。所有患者均手术治愈,无面瘫、声嘶等并发症。结论成人鳃裂畸形就诊科室分布广,涉及解剖复杂,相关科室提高对该病的认知程度和外科处理能力,避免漏诊误诊,减少疾病复发及相关并发症的出现。

First Cases of Amygdaloid Cyst in Adults in Djibouti: Case Report of Two Patients

Amygdaloid cysts are rare cystic benign tumors due to congenital malformations resulting from an anomaly of embryonic development of the upper laterocervical region, originating from the second branchial cleft. They represent approximately 2% of all laterocervical tumors and 6% to 85% of anomalies of the second branchial cleft. This anomaly of the second branchial cleft is a frequent reason for consultation in the pediatric population but is relatively rare in adults. We report the cases of two patients aged 23 and 34 years with no particular pathological history. They were presenting a laterocervical swelling, one right and the other left, painless, evolving for two years for the first and for 10 years for the second, gradually increasing in volume without any other associated signs the diagnosis of which after radiological exploration (ultrasound and CT scan) was that of an amygdaloid cyst. A cervicotomy with anatomopathological examination of the surgical specimen confirmed the diagnosis of the amygdaloid cyst. The objective is to analyze the anatomo-clinical and therapeutic particularities of this pathology and to compare it with data from the literature.

第一鳃裂囊肿及瘘管的手术治疗

第一鳃裂囊肿及瘘管临床较少见,手术较复杂,手术后易出现面瘫。我们采用显微镜下切除囊肿或瘘管上皮层的方法治疗第一鳃裂囊肿及瘘管,方法简单,效果满意。1.1临床资料。从2002年1月～2017年6月收治第一鳃裂囊肿及瘘管49例,男29例,女20例,年龄3～65岁,均为单侧发病,左侧28例,右侧21例,其中囊肿8例,瘘管41例,合并先天性外耳道狭窄12例。

乳突径路定位茎乳孔面神经后切除复杂性第一鳃裂瘘管或囊肿临床研究

目的 探讨复杂性第一鳃裂瘘管或囊肿手术切除的有效径路。方法 回顾性分析2010年1月-2021年8月复旦大学附属眼耳鼻喉医院收治的13例复杂性第一鳃裂瘘管或囊肿患者,所有患者均在显微镜下采用乳突完壁切除,开放茎乳孔并定位面神经,随后解剖腮腺面神经总干,在保护面神经及保留腮腺解剖结构前提下行第一鳃裂瘘管或囊肿切除。结果 本研究中男4例,女9例,年龄7-68岁,病史10-420个月不等,既往手术切除史8例,反复切开引流病史5例。随访时间4个月-11年。术前颞骨MRI T2WI平扫示病变为高信号,同面神经解剖关系密切。所有患者病变完全切除,1例患者切口感染,其余病例切口均Ⅰ期愈合,术后3个月面神经H-B I级,纯音测听示手术耳平均听阈,气导听阈16 d B,骨导听阈8 d B。所有患者无外耳道狭窄,无涎瘘、口干及Frey综合征发生;2例患者术后短暂出现唇角歪斜,H-B II级,经治疗随访2个月后面瘫恢复,术后颞骨MRI平扫示瘘管已被切除,13例患者均未见复发。结论 复杂性第一鳃裂瘘管或囊肿与面神经的解剖关系密切,显微镜下乳突完壁式切除后能定位茎乳孔面神经,随后能快速,准确解剖腮腺面神经总干,有效切除瘘管或囊肿,避免损伤面神经。

胎儿颈部囊性包块的MRI诊断与鉴别

目的:总结分析28例胎儿颈部囊性包块的MRI特点,提高产前MRI诊断水平。方法:搜集经产前超声检查发现的28例胎儿颈部囊性病变,于3d内行胎儿颈部MRI检查,回顾性分析28例病例的临床及影像资料。结果:28例胎儿颈部囊性包块中16例位于左侧,3例位于颈部正中,9例位于右侧;其中6例跨越中线;11例囊内有分隔。28例胎儿颈部囊性包块内信号特点均表现为T1WI低信号、T2WI高信号,2例在新生儿期T1WI信号不同程度增高,内可见气液平面和液液平面。经手术或引产后病理证实确诊为淋巴管瘤15例(其中1例位于颈前体积较小的淋巴管瘤出生后自然消退),腮裂囊肿8例,甲状舌管囊肿1例,食道闭锁4例。结论:胎儿MRI检查能够弥补胎儿超声检查的不足,获得更多产前诊断信息。

青蒿和槟榔制剂浸泡对锦鲤非特异性免疫因子活性、鳃及鳃丝组织病变的影响

在水温(28.5±1.0)℃下,将初始平均体质量(45.00±3.00)g的锦鲤(Cyprinus carpio)放入780 mm×575mm×467 mm(实际加水110 L)的养殖箱中,采用槟榔(Areca catechu L.)和青蒿(Artemisia carvifolia)1∶1混合制剂粉碎后无纺布挂袋药浴,浸泡浓度分别为0 mg·L^(-1)(对照组)、6.25 mg·L^(-1)(A组)、12.5 mg·L^(-1)(B组)、125mg·L^(-1)(C组)和250 mg·L^(-1)(D组)。试验开始的第0 d、3 d、6 d、9 d、12 d和15 d随机取出3尾鱼测定血清中C3a、C5aR、PGE2、PGF-2a、LZM和IL-6含量及鳃部表观变化,研究这两种中草药浸泡对锦鲤非特异性免疫因子活性、鳃及鳃丝组织病变的影响。结果表明,同一天中,浸泡组C3a、PGE2、PGF-2a和LZM含量显著上升(P<0.05),C5aR和IL-6含量无显著变化(P>0.05);同浓度的C3a、C5aR、PGE2、PGF-2a、LZM和IL-6的含量随浸泡时间延长先升高后降低,其中D组中含量变化最大。切片显示,在试验第0 d,鱼的鳃丝正常,无病变。在试验第9 d,各浸泡组鳃丝末端均无血细胞增多导致的膨大现象,炎症细胞未增多;而对照组鳃丝红肿溃烂。由此可见,此中药配方在适量范围内可以调节锦鲤体内的炎性因子,增强非特异性免疫。浸泡浓度250 mg·L^(-1)组效果较好。

罕见先天性右面部不典型面横裂伴颊瘘及下颌骨角化囊肿1例报道

面横裂属于颅面裂畸形中的一种临床类型。面横裂是一种较唇腭裂更为少见的先天性面裂畸形,其发生是由于胚胎时上颌突与下颌突未能完全融合所致,表现为口角至颊部呈水平裂开,除口颊畸形外,还可伴有第一鳃弓的发育畸形,如颜面一侧发育不良,耳前瘘管及附耳等畸形。面横裂的发生机制目前尚不清楚,可能与遗传、营养或环境因素有关。本文就临床中发现的1例先天性右面部不典型面横裂伴颊瘘合并同侧下颌骨角化囊肿的病例进行报道,具有一定的临床参考价值。

胃镜技术在第三鳃裂瘘管诊治中的应用

第三鳃裂异常患病率为2％-8％，在胚胎发育时第三鳃裂如果没有完全闭塞，就会形成囊肿、瘘口或者瘘管。在临床上表现为复发性的颈部脓肿或者急性化脓性甲状腺炎，以左侧居多。钡餐造影、CT、磁共振或内镜检查均可明确诊断。以往研究认为在第三鳃裂瘘管的诊断上钡餐造影和喉镜检查最为有效。近年来我科将胃镜技术应用于第三鳃裂瘘管的术前诊断和术中辅助手术，报道如下.

健康宣教及心理干预对第一二鳃弓综合征患儿遵医行为及家属护理满意度的影响

目的探讨健康宣教及心理干预对第一二鳃弓综合征患儿遵医行为及家属护理满意度的影响。方法150例行序列治疗的第一二鳃弓综合征患儿分为两组,对照组行常规护理干预,研究组在对照组基础上行健康宣教及心理干预,比较两组患儿的遵医行为及家属护理满意度。结果干预后,研究组患儿的合理饮食、配合检查、坚持服药、规律作息评分均高于对照组,家属护理满意度高于对照组(P<0.05)。结论健康宣教联合心理干预可改善第一二鳃弓综合征患儿的遵医行为,提升家属护理满意度。

外、中耳畸形与鳃裂囊肿

鳃源性耳畸形包括各类外，中耳畸形和鳃裂囊肿畸形，后者约占鳃源性畸形的1%。鳃裂囊肿与源于第2鳃弓神经之面神经解剖关系密切，术后避免误伤已为临床工程师所重视。文献中则罕有报导鳃裂囊肿并有外，中耳畸形者（如外耳道骨性闭锁或外耳道狭窄畸形），

鳃裂畸形的诊治

鳃裂畸形属先天性疾病,是胚胎发育过程中鳃沟与咽囊发生异常穿破或未完全闭合而形成,可表现为颈侧部的囊肿、瘘管或窦道。临床上较少见,容易误诊,治疗不当易复发。我们近期收治2例鳃裂畸形患者,通过复习相关文献,分析总结如下。