The status of the cervical spine in preschool children with a history of congenital muscular torticollis

Background: Infants with congenital muscular torticollis are born with an asymmetric range of motion and a muscular imbalance in the cervical spine, as a result of a shortening or excessive contraction of the sternocleidomastoid muscle. Purpose: The study aimed to investigate passive range of motion (PROM) for rotation and lateral flexion, and muscle function of the cervical spine in children that had a history of CMT as infants. Study design: a prospective cohort study. Patient sample: 58 children at the age of 3.5 to 5 years that had been treated for CMT have infants participated in the study. Method: PROM was measured with protractors and muscle function was estimated with a modified Muscle Function Scale. Data from infancy were taken from earlier records. Result: PROM in rotation of the neck was mean 98.7&#176 and PROM in lateral flexion of the neck was mean 69.1&#176. Symmetric PROM of the neck was found in 74% of the children for rotation and in 88% of the children for lateral flexion. Multiple regression showed that gender and PROM in rotation as infants had a significant impact on asymmetric PROM. Forty-five percent of the children had some degree of muscular imbalance in the lateral flexors of the neck. Conclusion: Possible risk factors for later asymmetric PROM are: gender, birth weight, gestation week and PROM in rotation as infants. These factors ought to be taken into consideration when developing guidelines for long-term follow-up.

Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract

Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.

A possible association between cervical erosion in pregnant women and congenital abnormalities in their children-a population-based case-control study

Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with CA and all matched controls without any CA born to wo- men with prospectively and medical record ECP in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA). Results: HCC- SCA contained 22,843 cases and 38,151 matched controls, the informative offspring of 40 (0.18%) case mothers and the newborns of 25 control mothers (0.07%) with ECP were compared and the higher risk for total CA (adjusted OR with 95% CI: 2.7, 1.6-4.4) was found explained by the higher risk of 9 cases with hypospadias (OR with 95% CI: 4.5, 2.1-9.7) and 10 cases with car-diovascular CAs (OR with 95% CI: 3.4, 1.6-7.1), particularly with conotruncal CAs. Conclusions: An unexpected possible association of ECP with higher risk for hypospadias and conotrun-cal cardiovascular CAs was found and these findings are considered as signals that need confirmation or

Role of SOX2 in foregut development in relation to congenital abnormalities

The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two systems, the gas exchange pulmonary system and the gastro-intestinal feeding system, are derived from the same primitive embryonic structure during development, the foregut, which need to be separated before birth. In certain newborns, this separation occurs not or insufficiently, leading to life threatening conditions, sometimes incompatible with life. The development of the foregut, trachea and lungs is influenced and coordinated by a multitude of signaling cascades and transcription factors. In this review, we will highlight the development of the foregut and pulmonary system and focus on associated congenital abnormalities in light of known genetic alterations with specific attention to the transcription factor SOX2.

Congenital anomalies of coronary artery misdiagnosed as coronary dilatations in Kawasaki disease:A clinical predicament

BACKGROUND 2D-echocardiography(2DE)has been the primary imaging modality in children with Kawasaki disease(KD)to assess coronary arteries.AIM To report the presence and implications of incidental congenital coronary artery anomalies that had been misinterpreted as coronary artery abnormalities(CAAs)on 2DE.METHODS Records of children diagnosed with KD,who underwent computed tomography coronary angiography(CTCA)at our center between 2013-2023 were reviewed.We identified 3 children with congenital coronary artery anomalies in this cohort on CTCA.Findings of CTCA and 2DE were compared in these 3 children.RESULTS Of the 241 patients with KD who underwent CTCA,3(1.24%)had congenital coronary artery anomalies on CTCA detected incidentally.In all 3 patients,baseline 2DE had identified CAAs.CTCA was then performed for detailed evaluation as per our unit protocol.One(11-year-boy)amongst the 3 patients had complete KD,while the other two(3.3-year-boy;4-month-girl)had incomplete KD.CTCA revealed separate origins of left anterior descending artery and left circumflex from left sinus[misinterpreted as dilated left main coronary artery(LCA)on 2DE],single coronary artery(interpreted as dilated LCA on 2DE)and dilated right coronary artery on 2DE in case of anomalous origin of LCA from the main pulmonary artery.The latter one was subsequently operated upon.CONCLUSION CTCA is essential for detailed assessment of coronary arteries in children with KD especially in cases where there is suspicion of congenital coronary artery anomalies.Relying solely on 2DE may not be sufficient in such cases,and findings from CTCA can significantly impact therapeutic decision-making.

360° fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis （CIPA） is an autosomal recessive form of sensory neuropathymanifesting with the lack of perception of pain.^1 There have been few reports of Charcot spine in patients with CIPA,^2 and surgery for such cases was accompanied by high revision proportion.^3＇4 The purpose of this report is to describe a patient with CIPA who developed a recurrent Charcot arthropathy in her lumbar spine and was treated by revision surgery, with the aim to discuss the strategy of surgical management for such cases.

Congenital Abnormalities of Kidneys and Urinary Tract in Children at the Dakar University Hospital

Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.

ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

Congenital agenesis of seminal vesicle

Congenital agenesis of the seminal vesicle （CASV） is frequently associated with congenital absence of the vas deferens （CAVD） or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology （ART） was still necessary for them to father children.

Epispadias in a Child with Intact Prepuce: A Rare Congenital Abnormality

Epispadias is a rare genitourinary malformation, more so is epispadias with intact prepuce. Incidence of epispadias with intact prepuce is not known however, there are few case reports and a case series. We present a 5-year-old boy brought to our facility by his parent for circumcision. Further evaluation revealed a short penis with broad base and intact prepuce. The preputial slit was dorsally oriented. On retracting the prepuce, there was corona epispadias with wide and healthy urethral plate. No meatal stenosis or chordee noticed. Other findings were normal. He had epispadias repair. The postoperative period was uneventful. Three months after operation, the prepuce was easily retractable over the penis and the penis was cosmetically acceptable.

Descriptive Study:Congenital Malformations in Pediatric Patients of a Public Maternity Hospital of the City of Manaus,Amazonas

The Pan American Health Organization(PAHO)defines congenital malformation as any functional or structural anomaly in the development of the fetus,due to factors originating before birth,whether genetic,environmental or unknown.The aim of the present study was to identify the frequency of malformations,the type of congenital malformations and to correlate this with risk factors in live-born infants,using SLB data.The data were collected through consultation of the medical records of live-born infants of the Balbina Mestrinho Maternity Hospital,15,621 live births were reported,of which 248(1.58%)presented congenital malformations.There was a higher prevalence of malformations among live-born males(49.7%),with Apgar≥7 at the first and fifth minute,gestational age ranging from 37-41 weeks,with 46%being born with appropriate weight between 3,000-4,000 g.The association of two or more defects was observed in 38.7%of the total cases and isolated anomalies in 67.3%,with predominance of alterations of the digestive system(26.3%),followed by malformations of the musculoskeletal system(21.2%),nervous system(20.2%)and cleft lip/cleft palate(9.1%).The results presented here may guide strategic actions to improve care for families of people with congenital malformations.

Congenital heart disease

970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

胎儿菱脑融合产前超声表现

目的 观察胎儿菱脑融合(RES)产前超声表现。方法 回顾性分析15胎单胎RES,观察其产前颅内、外超声表现。结果 15胎(15/15,100%)均表现为小脑横径低于同孕周胎儿正常值第3百分位数及双侧小脑半球融合;其中14胎(14/15,93.33%)小脑蚓部完全、1胎(1/15,6.67%)部分缺失;4胎(4/15,26.67%)第四脑室不显示,11胎(11/15,73.33%)第四脑室指数(4Vi)<1;未见蚓部与小脑半球间“分裂线”征。14胎(14/15,93.33%)合并颅内、外畸形,其中13胎(13/14,92.86%)合并颅内其他畸形、10胎(10/14,71.43%)合并颅外畸形;1胎(1/15,6.67%)未见其他畸形。结论 产前超声中,胎儿RES主要表现为小脑横径小、小脑蚓部完全或部分缺失、第四脑室不显示或发育异常及双侧小脑半球融合,易合并颅内、外其他畸形。

先天性右单支冠状动脉畸形并第三冠状动脉1例

患者女,69岁,反复活动后心前区压榨样疼痛半年、加重3天,持续1 h后逐渐缓解;否认其他特殊病史。查体未见明显异常。24 h动态心电图显示偶发多源房性期前收缩、部分连发伴反复短阵房性心动过速,偶发室性期前收缩伴短阵室性心动过速。实验室检查:高敏肌钙蛋白-Ⅰ0.07 ng/ml,高敏C反应蛋白2.27mg/L。

3.0T小翻转角3D快速稳态进动成像显示胎儿脊柱发育畸形

目的观察3.0T小翻转角(FA)3D快速稳态进动成像(FIESTA)显示胎儿脊柱发育畸形的价值。方法回顾性分析43胎因产前超声提示脊柱异常而接受脊柱MR检查,包括2D单次激发快速自旋回波(2D SSFSE)、2D FIESTA、2D磁敏感加权成像(SWI)及3D FIESTA的单胎胎儿,以Likert量表对图像显示胎儿颈、胸、腰骶椎质量进行主观评分,计算图像信噪比(SNR)及对比度噪声比(CNR),并对各序列进行比较。结果各序列图像显示胎儿颈、胸及腰骶椎质量主观评分、SNR及CNR差异均有统计学意义(P均<0.001)。2D SSFSE与2D FIESTA、2D SWI与3D FIESTA显示胎儿腰骶椎质量主观评分差异无统计学意义(P均>0.05),而其余序列显示胎儿颈、胸及腰骶椎质量主观评分结果两两比较差异均有统计学意义(P均<0.05)。3D FIESTA所示胎儿颈椎SNR、胸椎SNR及CNR均高于2D SSFSE、2D FIESTA及2D SWI(P均<0.05),所示颈椎CNR高于2D SSFSE及2D FIESTA(P均<0.05)、腰骶椎SNR高于2D SWI(P<0.05)而腰骶椎CNR高于2D SSFSE及2D SWI(P均<0.05)。结论3.0T小FA FIESTA有助于检出胎儿脊柱发育畸形。

z-score值联合节段分析法诊断胎儿圆锥动脉干畸形的研究

目的:探究超声心动图z-score值联合节段分析法在产前诊断胎儿心脏圆锥动脉干畸形中的价值。方法:选取2020年1月—2021年1月我院行胎儿心脏超声检查正常的胎儿1896例,构建大动脉各节段的孕周(GA)—z-score模型,选取2021年5月-2023年4月我院超声科进行胎儿心脏超声检查的1989例胎儿为研究对象,测量胎儿主动脉瓣环(AV)、升主动脉(AAO)、主动脉弓(ARCH)、降主动脉(DAO)、主动脉峡部、肺动脉瓣环(PV)、主肺动脉(MPA)、左肺动脉(LPA)、右肺动脉(RPA)内径,计算胎儿大动脉血管内径z-score值,结合节段分析法,诊断胎儿圆锥动脉干发育畸形。结果:共检出正常胎儿1927例,胎儿圆锥动脉干畸形62例,其中法洛四联症15例,完全性大动脉转位9例,右室双出口7例,主动脉增宽2例,主动脉缩窄6例,肺动脉增宽10例,肺动脉狭窄4例,主动脉瓣狭窄、肺动脉增宽合并永存左上腔静脉1例,双主动脉弓2例,主动脉弓离断1例,永存动脉干1例,肺动脉闭锁1例,右位主动脉弓并左锁骨下动脉迷走3例,误诊2例,漏诊1例,诊断灵敏度98.4%,特异度99.9%,阳性预测值96.8%,阴性预测值99.9%。z-score值联合节段分析法与二维超声联合节段分析法诊断结果具有统计学差异。结论:采用超声心动图z-score值联合节段分析法诊断胎儿圆锥动脉干畸形的类型,评估病变程度以及预后具有显著性,对指导优生优育具有重要意义。

紫绀型和非紫绀型先天性心脏病患儿的凝血参数特点

目的 凝血异常是未矫正先天性心脏病患儿的严重并发症和死亡原因,本研究旨在筛查先天性心脏病患儿凝血异常的患病率和相关因素,并比较紫绀型和非紫绀型患儿的凝血异常情况。方法 纳入年龄在0~3岁于2016年1月至2019年12月在中国医学科学院阜外医院就医的未矫正先天性心脏病患儿650例,包括245例紫绀型先天性心脏病和405例非紫绀型先天性心脏病。统计紫绀型与非紫绀型先天性心脏病患儿全血细胞计数和凝血常规检测结果,使用血小板计数、凝血酶原时间、活化部分凝血活酶时间、D-二聚体、纤维蛋白原和纤维蛋白降解产物测定值判断是否发生凝血异常。结果 紫绀型和非紫绀型先天性心脏病患儿凝血异常发生率分别是60.4%和44.7%。红细胞数、血红蛋白浓度、红细胞比容、红细胞体积分布宽度与血小板计数、凝血酶原时间、活化部分凝血酶原时间相关性具有统计学意义(P<0.05)。结论 未经矫正的先心病患儿凝血异常是常见的,相较于非紫绀型先天性心脏病患儿,紫绀型先天性心脏病患儿凝血异常更易发生。

先天性心脏病术后近期严重神经系统异常的相关因素分析

目的总结先天性心脏病(简称先心病)体外循环术后近期(1个月内)发生神经系统异常患儿的临床特征,分析术后近期发生严重神经系统异常的高危因素。方法回顾性分析2016年2月至2020年4月浙江大学医学院附属儿童医院心脏重症监护室(cardiac intensive care unit,CICU)收治的73例因先心病行体外循环下心脏手术,术后1个月内发生神经系统异常患儿的临床资料。根据是否需要接受抗癫痫治疗、外科手术干预及高压氧康复治疗将患儿分为严重神经系统异常组(n=15)和非严重神经系统异常组(n=58),对比两组患儿先心病类型、年龄、体重、体外循环时间、主动脉阻断时间、CICU滞留时间、住院时间、是否存在撤机后再插管以及围手术期心肺复苏(cardiopulmonary resuscitation,CPR)史等资料,采用单因素分析和二元Logistic回归分析先心病患儿手术后近斯发生严重神经系统异常的影响因素。结果经单因素分析发现,体外循环时间和主动脉阻断时间长、应用体外膜肺氧合(extracorporeal membrane oxygenation,ECMO)、合并气道狭窄、术后撤机后再插管、有围手术期心肺复苏史及非计划再次心血管手术是术后发生严重神经系统异常的相关因素(P<0.05)。Logistic回归分析结果提示:体外循环时间延长(OR=1.014,95%CI:1.002~1.025)和主动脉阻断时间延长(OR=1.030,95%CI:1.001~1.059)、撤机后再次插管(OR=0.157,95%CI:0.037~0.669)是术后发生严重神经系统异常的独立危险因素。结论先心病体外循环心内直视手术后实施程序化神经系统功能监测和评估有利于早期发现神经功能异常,临床上应避免长时间的体外循环、主动脉阻断及撤机后再次插管,以减少严重神经系统异常并发症的发生。

MRKH综合征合并卵巢恶性肿瘤一例

MRKH综合征(Mayer-Rokitansky-Küster-Hauser syndrome)是一种较为罕见的先天性女性生殖器官发育障碍综合征,以无阴道及子宫发育不全为特征。该病患者具有发生盆腔合并症的风险,但由于其发病率低,治疗上缺乏经验总结,容易发生误诊漏诊。报告1例MRKH综合征合并巨大卵巢浆液性乳头状癌病例的诊治情况。该类患者通常拥有正常的卵巢结构,妇科医生应当警惕卵巢病变的风险,术前配合磁共振成像检查可提高诊断敏感性,通过腹腔镜手术可更清晰地明确盆腔情况同时降低手术损伤;年轻的卵巢癌患者可考虑保留健侧卵巢以保证内源性激素,而残基子宫则建议切除以降低病变风险。该例患者术后肝功能明显异常,最终予诺雷得抑制卵巢功能以择期启动化疗;卵巢癌化疗方案仍适用于该类患者且随访疗效满意。通过结合文献分析,旨在提高妇科医生对MRKH综合征患者盆腔合并症的认识和警觉。

耳轮棘在儿童复杂性耳前瘘管手术中的意义

目的:探讨耳轮棘部分切除在儿童复杂性耳前瘘管手术中的应用意义。方法:回顾性分析2017年6月—2021年2月收治的78例复杂性耳前瘘管患儿临床资料和局部病变特点,探讨耳轮棘在术中的意义。结果:78例患者自然瘘口均位于耳轮脚前方,其中73例瘘管紧贴耳轮软骨膜达耳轮棘,5例既往手术已切除瘘口的复发病例残留病变均位于耳轮棘。全部病例术后均无复发。结论:手术是根治复杂性耳前瘘管的唯一方法,术中主动解剖耳轮棘可显露深部病变位置和范围,耳轮棘部分切除可减少复发,也可避免因耳轮软骨切除过多导致局部畸形。