椎动脉颅内段重复变异MR血管成像的观察分析

目的:探讨椎动脉颅内段重复变异的发生率、磁共振血管成像（MRA）表现特点及其临床意义。方法:回顾性研究。纳入2011年1月—2020年12月聊城市人民医院38 503例患者和体检者的头颈联合或颅脑三维（3D）时间飞跃法（TOF）MRA扫描及最大密度重建（MIP）资料,其中男21 048例、女17 455 例,年龄2～9...     

头颈联合64排螺旋CT血管成像诊断椎-基底动脉成窗变异

目的分析椎-基底动脉及其分支成窗变异的CT血管成像(CTA)表现,提高对该血管变异的认识。方法回顾性分析86例经头颈联合64排CTA诊断为椎-基底动脉及其分支成窗病人的影像学资料,分析椎-基底动脉及分支成窗的出现部位、形态、与周围血管及骨质的关系等特征及其合并症。结果 2051例行头颈联合64排CTA检查的病人中发现椎动脉、基底动脉或其分支成窗变异占4.2%(86例病人的88支血管),其中基底动脉为2.34%(48例),椎动脉1.8%(37例),大脑后动脉3例,小脑上动脉1例。48例基底动脉成窗中,31例位于基底动脉干,16例位于基底动脉起始部。37例椎动脉成窗中,颅内型19例,颅外型16例,颅内-外型2例。15个成窗的"窗"径小于2mm,呈孔状;73个"窗"径较大者中,37个成窗的分支粗细不等,呈"OK"手势征;36个病变分支粗细基本一致,呈部分重复走行。1例伴基底动脉成窗近端动脉瘤,3例伴其他血管的动脉瘤。2例伴大脑前动脉成窗;5例伴左侧椎动脉起源异常。结论头颈联合64排CTA能快速、直观、准确地诊断椎-基底动脉及其分支的成窗变异及其合并症,熟悉椎-基底动脉成窗的CTA特征有助于指导临床制定合理的治疗方案,提高相应治疗中的安全性。     

Complex anomalies of type 1 proatlantal intersegmental artery and aortic arch variations

Purpose

We report a case of type 1 proatlantal intersegmental artery (PIA) associated with multiple anomalies of the aortic arch, and discuss the possible embryonic mechanism and clinical importance of the multiple cerebrovascular variants in this patient.

Methods

A 65-year-old woman with dizziness underwent cerebral magnetic resonance (MR) imaging and head and neck MR angiography using a 3-tesla scanner and computed tomography (CT) angiography using a 64-slice multidetector CT scanner.

Results

MR and CT angiography demonstrated an aneurysm of the distal end of the azygos anterior cerebral arteries and hypoplasia of the proximal right vertebral artery (VA) with an anastomotic artery, between the right internal carotid artery (ICA) and distal right VA that passed through the foramen magnum, indicating a type 1 PIA. She also demonstrated an aberrant right subclavian artery (ARSA) with hypoplasia of the right VA, and the left VA arose directly from the aortic arch.

Conclusion

To our knowledge, this is the first report of a type 1 PIA associated with multiple vascular anomalies of the aortic arch, such as ARSA and origin of the left VA from the arch. In cases of persistent anastomoses between the carotid and vertebrobasilar arteries, such as PIAs, imaging examination should include the aortic arch to identify associated vascular variations.     

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.     

Bilateral duplicated internal jugular veins: case study and literature review

A rare bilateral duplication of the internal jugular vein (IJV) was discovered during cadaveric dissection. From each jugular foramen, a single IJV descended to the level of the hyoid bone then divided into medial and lateral veins. The medial IJVs traveled in the carotid sheath; the lateral IJVs coursed posterolateral to the sheath across the lateral cervical region (posterior triangle) of the neck. On the right side, medial and lateral IJVs entered the subclavian vein separately. C2-C3 anterior rami and the suprascapular artery passed between the medial and lateral IJVs. The right external jugular vein passed aberrantly between the heads of the sternocleidomastoid muscle (SCM) into the subclavian vein anterior to the lateral IJV. On the left side, the medial IJV drained into a large bulbous jugulovertebrosubclavian (JVS) sinus that received six main vessels. The lateral IJV diverged posterolaterally toward the border of the trapezius muscle, received the transverse cervical vein, and then turned sharply anteromedially to drain into the JVS sinus. The lateral IJV also gave an aberrant additional large vein that passed laterally around the omohyoid muscle before entering the JVS sinus. The left external jugular vein paralleled the anterior border of SCM before passing posterolaterally to terminate in the JVS sinus. Jugular vein anomalies of this magnitude are very rare. Determining the frequency of multiple IJVs is hampered by inconsistent terminology. We suggest that IJV duplication differs from fenestration anatomically and, potentially, developmentally. Criteria for characterizing IJV duplication and fenestration are proposed. The mechanism of development and the clinical significance of multiple IJVs are discussed.     

Intracranial arterial fenestrations: frequency on CT angiography and association with other vascular lesions

Fenestrations (segmental duplications) of the intracranial arteries are rare anomalies, felt to result from incomplete fusion of primitive embryologic vessels. They have been associated with aneurysms and other vascular lesions. The rate of fenestrations based on published angiographic series has been much lower than that at cadaveric series. The purpose of this study is to determine the frequency of fenestrations and associated vascular lesions at CTA. A total of 504 sequential CTA studies from 2005 to 2006 were retrospectively reviewed for the presence of fenestrations, aneurysms and other vascular lesions. Fenestrations were present in 53 patients (11%). Their frequency was not significantly different in patients referred for aneurysm indications, when compared to those referred for non-aneurysm indications. As expected, there was a much higher frequency of aneurysms in the former group. Associated vascular lesions were relatively uncommon. Aneurysms were present at the fenestration site in three patients, and remote from the fenestration site in eight. One fenestration patient with an associated aneurysm at the fenestration site also had an AVM remote from the fenestration. The frequency of fenestrations in this study was higher than in previously published radiologic studies, suggesting that fenestrations are relatively common, and may be more frequently visualized using cross-sectional imaging. Association with aneurysms and other vascular lesions was relatively uncommon. Our results do not support the theory that fenestrations predispose a patient to aneurysms or vascular malformations remote from the site of the fenestration. Although the association of aneurysms at the site of fenestrations is well documented, our results do not show an overall higher rate of aneurysm formation in patients with fenestrations compared to those without.     

有孔型椎基底动脉的磁共振增强血管成像研究简

目的分析有孔型椎基底动脉的磁共振增强血管成像（CEMRA）的影像学表现及相关血管性病变,提高对该血管异常影像学特征的认识。方法收集自2013年2月至2013年10月635例行头颈部CEMRA检查患者.其中男性337例,女性298例;年龄23～97岁,平均年龄62.4岁。将其图像传人工作站Volumeview软件行后处理,进行最大信号强度投影（MIP）.对图像进行分析。结果有孔型椎基底动脉共22例,其中有孔型基底动脉18例（检出率2.83％）,有孔型椎动脉4例（检出率0.63％）。有孔型椎基底动脉的异常血管形成圆孔状、裂隙样或凸透镜样形态。22例有孔型椎基底动脉中5例有孔基底动脉可见小脑下前动脉（AICA）开口于有孔血管。1例伴有烟雾病,1例合并前交通动脉瘤伴颅内出血,13例同时伴有动脉粥样硬化。结论颅内有孔型椎基底动脉的检出率约3.46％,有孔型血管尚可合并动脉瘤等其他血管性病变.CEMRA结合常规扫描能清楚显示和诊断有孔型椎基底动脉这一少见的血管异常。     

Duplication 3q(q21 → qter) without limb anomalies

We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.     

Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: A study of 50 patients

Aside from congenital heart disease, anomalies associated with unilateral hypoplasia of the depressor anguli oris muscle have not been well-documented in large series. We evaluated the associated anomalies in 50 infants or children with this disorder (male:female = 2:1) and found accompanying anomalies in 35 (70%) of 50 cases. They included anomalies of the head and neck (48%), heart (44%), skeleton (22%), genitourinary tract (24%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%). Nearly half of our cases (22/50) had at least 2 associated systemic anomalies. Failure to thrive and psychomotor retardation were found in 5 (10%) and 3 (6%) patients, respectively, on follow-up. Three infants died neonatally of severe heart disorders, and the other one died of central nervous system anomalies. The above findings indicate that a thorough search for associated anomalies, particularly in the cardiovascular system, should be performed in all newborns with asymmetric crying face. Am. J. Med. Genet. 71:215–218, 1997. © 1997 Wiley-Liss, Inc.     

Computed tomography and magnetic resonance angiography in the evaluation of aberrant origin of the external carotid artery branches

Aim of our study was to evaluate the prevalence of aberrant origin of the branches of the external carotid artery (ECA) in 97 patients by computed tomography (CTA) and magnetic resonance angiography (MRA) and to compare the accuracy of these two techniques in the visualization of the ECA system. All patients underwent CTA and MRA examination of the head and neck. Multiplanar and volumetric reformations were obtained in all cases. For each set of images, the presence of aberrant origin of the branches of the external carotid artery was investigated. MRA and CTA images of each patient were compared to define their information content. Anatomical anomalies were found in 88 heminecks, with a prevalence of 53.3%. In the 61 patients in whom the CTA was performed before the MRA, the latter method showed only 92% of abnormalities detected at the first examination; in the 36 patients in whom MRA was performed first, CTA identified all of the anomalies highlighted by the former, adding 12 new. Knowledge of the anomalies of origin of the ECA branches is essential for the head and neck surgeon; the high prevalence of anomalies found in our series as in the previous studies indicates the opportunity to perform a CTA or a MRA of the head and neck before any surgical or interventional procedure. CTA is the method of choice in the evaluation of anomalies of origin of the branches of the ECA and in the definition of their course.     

Head and neck cancer screening in homeless communities: HEAL (Health Education, Assessment, and Leadership)

Homeless persons are at high risk for medical illness, particularly for head and neck cancers, but they face several barriers to receiving adequate health care. We conducted cancer screening and education about head and neck cancer risk factors in one such population (n = 325). Although 41.4% of the participants reported at least 1 otolaryngologic sign or symptom, and 8.6% reported having 2 or more symptoms, most of them (72.3%) had received no medical care. The symptom reported most often was a change in voice (17.2%). In all, 11% of the participants were referred for head or neck cancer evaluation, and 9% of those undergoing biopsy had a malignancy that was later treated. Nearly 75% of participants had at least a ninth-grade education. However, although 71.2% knew that the use of tobacco can lead to lung cancer, 78.9% did not recognize that it can also lead to head or neck cancer. In this population, cigarette smoking was associated with more than doubled odds of follow-up medical care (odds ratio, 2.31). Head and neck cancers cause substantial morbidity and mortality. Community outreach programs can be an excellent starting point to improving early detection and health education for underserved communities.     

A restraining apparatus for Chelonians

A restraining system for the head and neck of tortoises or turtles is described which, when associated with a standard electrode carrier, can be used as a stereotaxic apparatus for Chelonians. The apparatus designed has two basic systems: one for holding the neck, the other for holding the head. They are associated with a standard electrode carrier in a common platform. Restraining apparatus.     

Diprosopus (partially duplicated head) associated with anencephaly: a case report

Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.     

Variations in the intracranial vertebrobasilar system

Aim The aim of our study was to demonstrate some possible variations in the vertebrobasilar system (VBS) in the Turkish population and to compare our results with the literature. Materials and methods The VBS samples were taken from 109 fresh forensic autopsies and one anatomic cadaver. The widths of the vertebral artery (VA), the basilar artery (BA) and their branches were measured; dominancy and hypoplastic arteries, as well as the types of variations and their locations, were determined. Results Hypoplastic VA was observed at rates of 20.2% on the right, 14.4% on the left and 4.8% bilaterally. The vertebrobasilar junction was found to be either at the level of bulbopontine sulcus (20%), below the sulcus (67%) or above the sulcus (12%). BA variations were observed as duplications of the proximal (0.9%) and distal segments (1.8%). Anterior spinal artery (ASA) originated as a single trunk in 12.5% of the cases. ASA arose from a transverse anastomosis connecting VAs in 6.3% of the cases. Furthermore, 15.6% of ASAs were double. The observed variations in the superior cerebellar artery were early bifurcation (7.2% on the right, 12.7% on the left), fenestration (4.5% on the right, 7.2% on the left), duplication (14.5% on the right, 12.7% on the left) and origin as a common trunk (6.3% on the right, 10% on the left). Conclusion Our results show that a high percentage of variations can be seen even in a small number of cases. We believe that our data are clinically important because, for example, variations are a factor which increases the incidence of aneurism and thrombus. We also think our results will contribute to the demography of our country and to clinical medicine.     

Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome

We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations.     

Prenatal diagnosis of the duplication 17p11.2 associated with Potocki–Lupski syndrome in a foetus presenting with mildly dysmorphic features

Duplication 17p11.2 (Potocki–Lupski syndrome (PTLS) MIM# 610883) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for other genomic disorders this duplication is typically de novo and is not associated with advanced maternal age or advanced paternal age. Herein we describe a prenatal diagnosis of duplication 17p11.2. This diagnosis was not suspected as the prenatal ultrasound findings were non-specific; however, BACs-on-Beads™ technology and array comparative genomic hybridization (aCGH) confirmed the common ∼3.7 Mb duplication. Evaluation of the foetus following termination of pregnancy revealed mildly dysmorphic features as well as congenital anomalies not previously reported in PTLS, specifically left pulmonary isomerism, an abnormally positioned left coronary orifice and nodular cerebellar heterotopia. This report exemplifies the utility of prenatal testing using new genomic technologies even when there are no multiple anomalies on foetal ultrasound. This report also exemplifies the utility of foetal autopsy in the identification of “occult” congenital anomalies.     

An overview and update on soft tissue lesions of the head and neck

Soft tissue lesions of the head and neck encompass a broad range of pathological entities associated with different prognoses and requiring different treatments. All pathologists will encounter a wide range of soft tissue tumours in whatever specialist area they practice. Getting the diagnosis ‘right the first time’ is critical for patients to be offered optimal treatment. Molecular testing can help reach the correct diagnoses and this arena is developing fast. However, pathologists should not rely unquestioningly on special tests, whether it is immunohistochemistry or whole genome sequencing as no test is entirely specific or sensitive. Pathologists should provide a diagnosis in the context of all tests including the histology along with medical imaging and the patient's symptoms, signs and family history. This article reviews key clinical, pathological and histologic features of tumours most commonly presenting in the head and neck region, including those most recently described.     

Fatal subarachnoid hemorrhage due to traumatic rupture of the vertebral artery

Massive fatal subarachnoid hemorrhage maximal in the posterior fossa following minor trauma to the head and neck was first attributed to rupture of a vertebral artery (VA) in 1971. Typically, a young, healthy, but intoxicated man receives a minor blow and immediately collapses and dies within minutes. Early reports suggested an extracranial site of rupture with upward tracking of blood into the subarachnoid space. In few cases has this site of rupture been histologically verified, and more recent reports have drawn attention to intracranial rupture of the VA. We describe herein six cases in which the intracranial segment of the VA was the site of traumatic rupture, a site which can be demonstrated by careful examination of the most proximal segment of the VA attached to the brain in the course of routine brain removal.     

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190–30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.     

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay

The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4.