Mortality and morbidity associated with late diagnosis of anorectal malformations in children.

AIM: The aim of this study was to highlight the timing of diagnosis of anorectal malformations and the morbidity and mortality associated with any delay. METHODS: We retrospectively reviewed all patients with anorectal malformations presenting to the Children's Hospital, Leicester between 1998-2005. Patient demographics included age at diagnosis, presenting complaint, type of anorectal malformation and sex. Associated malformations were carefully recorded as well as morbidity and mortality occurring as a consequence of the delay in diagnosis. RESULTS: Out of a total of 52 patients, 28 (53%) had delay in diagnosis of the malformation. This delay was associated with significant morbidity in 19% and sadly included two deaths (4%), both being directly related to the missed diagnosis. CONCLUSION: Despite the established, routine, systematic pre-discharge examination in all neonates, a significant proportion of anorectal malformations are not diagnosed at this time. This delay is the cause of significant morbidity and mortality. Simple perineal examination will clearly identify the existence of all anorectal malformations and therefore such morbidity and mortality is totally avoidable.     

多层螺旋CT三维重建技术在头颈部软组织血管畸形诊治中的应用

目的 探讨多层螺旋CT三维重建对头颈部软组织血管畸形的诊断和临床治疗价值. 方法 2005年6月至2007年10月,对20例头颈部软组织血管畸形,采用64排螺旋CT及三维重建进行扫描分析,根据螺旋CT影像结果选择治疗方法,并进行术后效果评估. 结果 16例患者的螺旋CT影像可完整或部分显示瘤体的边界,清晰显示病灶的立体解剖和空间位置;4例患者的螺旋CT影像均可见异常扩张的供血动脉.根据螺旋CT影像结果,2例唇部静脉畸形患者行手术切除,病损均完全消退;11例颊部和1例口底静脉畸形行区室化硬化治疗,病损完全消退或大部分消退;2例口底静脉畸形行手术切除联合硬化治疗,病损大部分消退;4例动静脉畸形患者行超选择性的动脉栓塞治疗,术后病损部分消退,病损区搏动明显减弱或者消失. 结论 多层螺旋CT三维重建对头颈部软组织血管畸形的诊断和治疗方法的选择具有重要的参考价值.     

胎儿颜面部畸形高频超声尸体解剖学研究

目的研究胎儿尸体颜面部畸形产后高频超声检查的准确性。方法对产前超声检查诊断为严重畸形或染色体检查为异常而引产、且其父母同意尸体解剖的71例引产胎儿颜面部行产后高频超声检查，并将结果与尸体解剖对比。结果产后超声发现71例中共有24例胎儿存在颜面部畸形，共有颜面部畸形51处，经尸体解剖证实，PMFU灵敏度、准确率均达100％。从不破坏尸体完整性、操作的简便性、获得结果的快捷性方面进行评估，51处颜面部畸形中，PM—FU在22处优于尸体解剖。结论产后超声检查为胎儿尸体解剖学检查开辟了新领域，可以作为尸体检查的选择方法之一，在胎儿尸体解剖遇到障碍时代替运用，或在尸体解剖前运用作为尸体解剖思路、步骤、方法等的指导。     

Pathogenesis and genetics of vascular anomalies

Vascular anomalies, divided into vascular tumors and vascular malformations, are localized defects of angiogenesis. Hemangiomas appear soon after birth, grow quickly, and then spontaneously, but slowly, disappear. In contrast, vascular malformations are congenital defects of vascular development that grow proportionately with the child. Most vascular anomalies are considered non-hereditary. However, due to detailed analysis inherited forms have been observed, which has led to identify mutations in three genes causing familial vascular malformations: in the angiopoietin receptor TIE2 in mucocutaneous venous malformations (VMCM), in glomulin in glomuvenous malformations (GVM) and in RASA1 in the newly recognized phenotype capillary malformation-arteriovenous malformation (CM-AVM). Identification of the causative genes has permitted more precise diagnosis and differential diagnosis, evaluation of phenotypic variability among patients with a proven mutation, study of used treatments in more homogeneous patient groups, and elucidation of the etiopathogenic mechanisms behind vascular malformations. Further studies are needed to unravel the role of genetic variations in the various vascular malformations and to unravel the precise molecular mechanisms that lead to development of these vascular lesions. This should provide development of new-targeted therapies.     

《欧洲血管外科学会临床实践指南·慢性静脉疾病管理》中静脉畸形相关内容解读

长期以来对先天性静脉畸形的认识极其混乱,误诊误治现象相当普遍,规范医疗行为迫在眉睫。2015年6月发表在欧洲血管外科学会官方刊物《European Journal of Vascular and Endovascular Surgery》上的《欧洲血管外科学会临床实践指南·慢性静脉疾病管理》第6章中,评论了先天性血管畸形的分类,特别关注于先天性静脉畸形以及累及静脉系统的混合型先天性血管畸形包括Klippel-Trenaunay综合征和Parkes-Weber综合征的病因、临床特征、诊断和治疗,对进一步提高对静脉畸形的诊治水平具有重要的指导意义。     

Prenatal diagnosis of urinary tract malformation

Malformation of the urinary tract (UT) is among the most common of all congenital malformations. Prior to the common usage of prenatal ultrasound, these anomalies were undetected until pediatric complications prompted investigation. When diagnosed and treated in early infancy, children with urinary tract malformations have a much better prognosis than when diagnosis is delayed beyond 1–2 years. Since the first report of the prenatal diagnosis of polycystic kidney disease by Garrett et al. in 1970, most forms of congenital urinary tract malformation have been diagnosed antenatally with the use of sonography. A review of the normal and abnormal development of the urinary system, some genetic aspects of UT malformations, and an overiew of the major UT anomalies and their prenatal diagnosis is presented.     

体感诱发电位检查在先天性脊柱侧凸神经功能评估中的价值

目的 探讨体感诱发电位(SEP)检查在伴脊髓发育畸形的先天性脊柱侧凸(CS)中的诊断价值.方法 回顾性分析2001年9月到2007年9月诊治的187例CS患者临床资料,其中男性85例,女性102例;年龄3～22岁,平均13.8岁.所有患者均行全脊髓磁共振检查判断是否存在脊髓发育畸形.分析术前SEP的峰潜伏期及左、右侧峰潜伏期差值.SEP波形消失、峰潜伏期延长及峰潜伏期不对称定义为SEP异常.比较有无脊髓发育畸形患者的临床特征及SEP异常发生率的差异.结果 共有32例患者伴脊髓发育畸形.CSⅢ型(混合型)伴脊髓发育畸形比例(30.8%)高于Ⅰ型和Ⅱ型(P＜0.05).伴脊髓发育畸形组平均侧凸Cobb角大于无脊髓发育畸形组(P＜0.05),而两组平均后凸Cobb角差异无统计学意义(P＞0.05).伴脊髓发育畸形组SEP异常率与无脊髓发育畸形相比,差异有统计学意义(x2=4.70,P＜0.05).结论 SEP检查可以评估CS患者的神经功能状态,对CS伴脊髓发育畸形具有辅助诊断价值.     

The pattern and frequency of congenital heart disease among blacks

The types of cardiac malformations in 804 black patients of all ages in whom the diagnosis was confirmed by cardiac catheterization, surgery or autopsy are reported. The most frequent anomalies were ventricular septal defect, patent ductus arteriosus and tetralogy of Fallot. Among infants under 1 year of age, complete transposition of the great vessels accounted for the third-largest group of malformations. While pulmonary venous anomalies were extremely rare and hypoplastic left heart defects rare in the neonate, it is not considered that a racial predilection for differences in the frequency of various cardiac malformations exists. The frequency of coarctation of the aorta in the group as a whole was not lower than that found in studies among whites. Among black patients of all ages with heart disease (studied in a hospital environment) congenital cardiac malformations ranked as the second most common form of heart disease with a frequency of 26%. Among children aged 15 years or less, congenital heart disease ranked first with a frequency of 53%. It is suggested that a diagnosis of congenital heart disease is not made in the majority of blacks born with such malformations.     

体表静脉畸形的诊断与治疗进展

体表静脉畸形(Peripheral venous malformations)是指位于头颈部、躯干或四肢的蓝紫色血管发育异常病灶,多见于皮肤和皮下组织,亦可见于黏膜或肌肉。尽管体表静脉畸形属于良性的血管畸形病变,但其生长与身体发育同步,不会自行消退,容易造成容貌缺陷和功能障碍,应积极进行诊断与治疗。本文就体表静脉畸形的临床诊断及常见治疗方法进行综述。     

GLUT-1: an extra diagnostic tool to differentiate between haemangiomas and vascular malformations.

The differential diagnosis between juvenile haemangiomas, vascular malformations, pyogenic granulomas and normally proliferative endothelium (granulation tissue) on the basis of histology alone is sometimes difficult. This is important because haemangiomas, are self-limiting and vascular malformations are not. We report our experience of using the immunohistochemical marker GLUT-1 to distinguish haemangiomas from vascular malformations following the initial report by North and Colleagues (1998). We studied a total of 50 specimens from patients with vascular anomalies, and found that GLUT-1 reactivity was positive in 18 out of 19 juvenile haemangiomas, negative in two out of two noninvoluting congenital haemangiomas (NICH) and negative in 29 out of 29 vascular malformations, that included capillary malformations, lymphatic malformations, venous malformations and arteriovenous malformations (95% sensitivity, 100% specificity). Pyogenic granulomas (n = 4) and granulation tissue samples (n = 4) were used as negative controls. Placenta tissue was used as positive control. GLUT-1 accurately distinguishes haemangiomas from vascular malformations, and as a result from this work, we use this technique in routine histopathological differentiation of vascular anomalies.     

Diagnosis and treatment of vascular brain-stem malformations

Vascular malformations are a common cause of spontaneous brain-stem hemorrhage in young normotensive individuals. These lesions are no longer cryptic. Magnetic resonance (MR) imaging has renewed interest in the treatment of this disorder because of the precise accuracy in diagnosis and localization of these lesions that it affords. The MR image demonstrates characteristic findings of multiple hemorrhages of varying ages surrounded by a hypointense peripheral zone of hemosiderin. Five cases of vascular brain-stem malformation diagnosed with MR imaging are described. The vascular malformations could be demonstrated as "flow void" areas in three cases. Three patients were treated surgically and vascular malformations were confirmed: all three patients improved postoperatively. Two patients were treated nonsurgically; one of these recovered from a second hemorrhage and the other experienced neurological deterioration after a single hemorrhage. High-energy radiotherapy was not effective for the one vascular malformation treated by this method. This experience suggests that surgical exploration should be considered for vascular brain-stem malformations when the diagnosis is confirmed by MR criteria and the clinical course and lesion are both progressive in character.     

Life-threatening hemorrhage from a congenital hemangioma caused by birth trauma

Pediatric surgeons frequently diagnose and treat vascular malformations. We present the case of a boy born with a large congenital hemangioma of the flank that ruptured during birth, resulting in life-threatening hemorrhage, requiring emergent excision. Prenatal diagnosis may help to identify such lesions, and pediatric surgeons must be ready to treat emergent complications of vascular malformations.     

Congenital intestinal malformations: clinical evaluation and specific treatment. Case report and literature review

A case of acute abdomen due to diastasic perforation of the right colon by volvulus on mesenterium commune with associated agenesis of the left kidney and urogenital malformations in a young woman is reported. The case emphasizes the complexity and the polymorphism of congenital abdominal malformations, particularly predisposing to volvulus, that can represent a really challenge for emergency surgeon. The A.A. analyze literature about congenital intestinal anomalies to evaluate clinical, diagnostic and therapeutical problems, and they remark features to take into consideration in emergency: clinical history in non-operated patient of abdominal pain and biliary vomit with spontaneous resolutions; nutritional compromise; hypothetical diagnosis of anorexia or food intolerance; malformations in other organs or systems and, one mostly, young age. The correct interpretation of these symptoms can suggest suspicious of an occlusive complication due to intestinal malformations. Radiological data and the exploratory laparotomy or laparoscopy will confirm our intuition. If otherwise diagnosis of the cause underlying the chronic recurrent abdominal pain are delayed, surgical operation in emergency condition will be more aggressive and anatomical structures sacrificed.     

Congenital vascular malformations: when and how to treat them

Congenital vascular malformations may involve arterial, venous, and lymphatic structures, can present in a variety of forms, and present many diagnostic and therapeutic challenges. Two-thirds of all congenital vascular malformations are predominantly venous, and their management will be emphasized in this article, because of the focus of this issue. The majority of the venous malformations are asymptomatic and should be treated conservatively. However, the clinical presentation of venous malformations associated with lymphatic anomalies is variable, and management may be more challenging. The diagnosis and management of arteriovenous malformations is straightforward. Selective catheter-directed embolization of the feeding arteries, occasionally followed by tumor excision, is the treatment of choice. Hemangiomas often will grow rapidly and then begin to regress. When they produce troublesome symptoms and are well localized, they should be excised. Deeply seated or diffuse malformations require a complete diagnostic evaluation to select the most appropriate time and type of intervention. Both our own experience and that of others can provided some basis for therapeutic recommendations in treating the different vascular malformations.     

Recurrent epididymitis in a child without genitourinary malformations: a case report

The patient was a 12-year-old boy, who was brought to our hospital with a chief complaint of swelling and pain in the right scrotum. Color Doppler ultrasonography showed blood flow in the right testis and increased blood flow at the right epididymis. Our diagnosis was right epididymitis, and the swelling of the scrotum was improved by antibiotics. Since there was recurrence, right epididymectomy was performed. Histological diagnosis was chronic epididymitis. Postoperative, screening for abnormalities in the urinary tract revealed no malformations. Recurrent epididymitis in a child without genitourinary malformations is a very rare pathology.     

Persistent cloaca: are we ready for a correct prenatal diagnosis?

Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.     

Genetic factors related to intracranial arteriovenous malformations

Genetic studies are interesting not only in the diagnosis and screening of new cases within a family harboring a particular disease, but also in understanding the underlying genetic and molecular factors related to that disease. Such studies revealed 3 categories of cerebral arteriovenous malformations in relationship to possible genetic factors. The first one concerns cerebral arteriovenous malformations in relationship to inherited diseases where a genetic support is clearly identified. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) represents the most classical picture. The second category corresponds to familial cases of cerebral arteriovenous malformations were several members and relatives of the same family harboring the pathology without clear demonstration of any genetic basis. The third category includes cerebral arteriovenous malformations described in association with neurocutaneous disorders issued from maldevelopment events. Sturge-Weber disease and Wyburn-Mason syndrome best illustrate this category. A review of these categories will help in a better understanding of some genetic issues related to cerebral arteriovenous malformations.     

Imaging of cerebral arteriovenous malformations and dural arteriovenous fistulas

Imaging plays a major role in the identification, grading, and treatment of cerebral arteriovenous malformations and cerebral dural arteriovenous fistulas. Digital subtraction angiography is the gold standard in the diagnosis and characterization of these vascular malformations, but advances in both magnetic resonance imaging and computed tomography, including advanced imaging techniques, have provided new tools for further characterizing these lesions as well as the surrounding brain structures that may be affected. This article discusses the role of conventional as well as advanced imaging modalities that are providing novel ways to characterize these vascular malformations.     

Cavernous malformations of the optic chiasma

Summary Two cases of cavernous malformation of the optic chiasm are reported, and 12 previously reported cases are reviewed.The first patient presented with gradually progressive and the second patient with a subacute chiasmal syndrome. Total excision was performed in both cases. Visual function improved slightly after surgery in the first patient while the other showed marked improvement.Although cavernous malformations are angiographically occult, pre-operative diagnosis has become possible based on the characteristic features such as repeated haemorrhages in multiple sinusoidal structures as revealed by magnetic resonance imaging (MRI). A gliotic interspace between the malformation and normal neural tissue provides a plane of cleavage for dissection which permits total excision without causing new deficits.Review of previously reported cases revealed that chiasmal cavernous malformations haemorrhage more frequently than those in the brain. Early diagnosis with total excision is the treatment of choice for cavernous malformations of the optic chiasma.     

Management of combined vascular malformations

Like single-channel-type vascular malformations, combined lesions are categorized as slow-flow and fast-flow lesions. Many of the combined vascular malformations are associated with soft tissue and skeletal hypertrophy. This article discusses the diagnosis, management, and treatment of patients with capillary lymphaticovenous malformation, capillary-arteriovenous malformation, and capillary-arteriovenous fistulas and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies syndrome.