OBJECTIVE AND IMPORTANCE: Arteriovenous malformations (AVMs) are generally thought to have a congenital cause. This is the first report of an angiographically proven de novo cerebral AVM in an adult patient without previous vascular abnormality. CLINICAL PRESENTATION: A 26-year-old African-American woman developed multiple cranial nerve deficits and ataxia over the ...

More than half of the patients with vascular anomalies referred to the Vascular Anomalies Clinic at Children's Hospital, Boston, have been misdiagnosed. A major consequence of misdiagnosis is inappropriate treatment, including deferral of necessary treatment and inappropriate use of pharmacotherapy, radiation, surgery, and embolotherapy. Hemangiomas and vascular malformations are distinct ...

Hemimegalencephaly is a rare hamartomatous malformation of the brain, remarkable for its extreme asymmetry. It can be isolated or associated with several neurocutaneous syndromes; less frequently, it also involves the brain stem and cerebellum. Traditionally, hemimegalencephaly has been considered a primary neuroblast migratory disturbance. At present, genetic theories of pathogenesis ...

Normal ears come in a wide variety of sizes and shapes, likely because of the impact of racial and familial characteristics (phenotypes), the complexity of the embryologic development (malformations), and the potential for intrauterine factors such as oligohydramnios or intrauterine compression to produce distinct physical characteristics in normally formed tissues ...

OBJECTIVE: To minimize the risks associated with treating cortical cerebral arteriovenous malformations (AVMs), we developed a technique combining functional imaging and cerebral angiography. The functional loci obtained by performing magnetoencephalography (MEG) are projected onto stereoscopic pairs of a stereotactically derived digital subtraction angiogram. The result is a simultaneous three-dimensional perspective ...

Vascular anomalies in the head and neck area are not infrequent and, in most cases, are congenital in origin. We present a congenital arteriovenous malformation (AVM) of the neck that manifested in a young woman during delivery. Imaging findings on ultrasonography (US), computed tomography (CT) and angiography were inconclusive and ...

OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic resonance imaging at St. Jan Brugge, Brugge, Belgium. PATIENTS: Eight ...

Our purpose was to evaluate the utility of surface anatomy scanning (SAS) of the brain with superimposition of MR angiograms in the diagnosis and presurgical planning of superficial cerebral arteriovenous malformations (AVMs). We performed SAS in 15 patients with superficial cerebral AVMs. Two-dimensional phase-contrast MR angiograms were then obtained in ...

BACKGROUND: Brain arteriovenous malformations (AVMs) represent a potential source of intracranial hemorrhage, especially in young adults, but prospective population-based incidence data on AVM hemorrhage are lacking. We investigated the incidence of first-ever AVM hemorrhage in adults based on population data from the Northern Manhattan Stroke Study (NOMASS). METHODS: NOMASS is ...

Chiari type I malformation is one of the posterior fossa maldevelopments with which different clinical manifestations have been associated. Seizures have only recently been associated with Chiari type I malformation. This study reports on 4 children with epilepsy (2M, 2F; age range 8-15 y) diagnosed with Chiari type I malformation ...

Magnetic resonance imaging (MRI) has had an enormous impact on the practice of medicine, and especially, on the clinical neurosciences. One area in which MRI has had a particularly large impact has been on the analysis and understanding of cerebral malformations. This manuscript describes the manner in which MRI in ...

Because of the spatial limitations of scalp electroencephalographic recordings and the lack of reproducible results using functional MR imaging techniques to map various eloquent areas of the cortex, the accurate mapping of the extent of epileptogenicity and function currently are best accomplished through invasive electrocorticographic recordings and direct cortical stimulation, ...

This study compares the image accuracy of computerized tomography (CT) with that of plain film radiography (PFR) in analyzing the 3-dimensional shape of impacted teeth suspected of being malformed. Eighteen patients with 22 malformed teeth were studied by PFR and CT. Crown shape, root shape, crown/root relationship, and tooth inclination ...

Magnetic resonance is the imaging modality of choice for the evaluation of infants and children with known or suspected cerebral and cerebrovascular abnormalities. Entities described include cephaloceles, holoprosencephaly, dysgenesis of corpus callosum, and anomalies of neuronal migration. Congenital vascular lesions described include aneurysm, arteriovenous malformation, cavernous malformation, and Galenic malformations.

The Arnold-Chiari malformation type I is a rare congenital condition characterized by herniation of the cerebellar tonsils into the upper cervical spinal tract. Various otoneurological manifestations occur in patients with the disease, which has usually been associated with a downbeat type of nystagmus. In this paper a case with this ...

The embryology of the inner ear must be known as many of the inner ear malformations present as a result of the arrest during the various stages of embryology. These malformations are described in this "embryologic" perspective and specific names for certain malformations are no longer used. Both CT and ...

Venous malformations are the most common vascular malformations. However, confusion with respect to terminology and imaging guidelines continues to result in improper diagnosis and treatment. An appropriate classification scheme for vascular anomalies is important to avoid the use of false generic terms. Adequate imaging in association with clinical findings is ...

The imaging armamentarium for imaging head and neck vascular lesions and the imaging features of each have been reviewed. Imaging is an indispensable part of the diagnosis and treatment planning of these lesions. The architecture and vascularity of these lesions are keys to their correct diagnosis. High-flow lesions (AVMs and ...

OBJECTIVE: The Chiari I malformation is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Although Chiari I malformation is considered to derive from a mesodermal disorder resulting in underdevelopment of the posterior fossa relative to its content, evidence for a possible heterogeneous etiology ...

BACKGROUND: Three-dimensional (3-D) imaging using computed tomography or magnetic resonance imaging data is well known for surgical planning of complex lesions in neurosurgery. In dermatology, percutaneous and intralesional Nd:YAG laser therapy is well established for numerous types of vascular malformations. Diagnostic imaging using ultrasound, computed tomography, or magnetic resonance imaging ...

Vascular malformations are anatomically subdivided according to the predominant channel anomaly into either capillary, arterial, venous, lymphatic, or combinations. They can be further subdivided into high- or low-flow malformations. Any lesion that has an arterial component is considered a high-flow malformation. Once the diagnosis of a vascular malformation is made, ...

Spatial resolution remains one of the major problems and goals in spinal imaging. The high spatial resolution afforded by a novel sequence, constructive interference in steady state (CISS), provides a further refinement to MRI, the modality of choice in the investigation of suspected intraspinal pathology. Both complex and subtle abnormalities ...

OBJECTIVE: The purpose of this study was to analyze clinical data and magnetic resonance imaging (MRI) findings for patients with asymptomatic, incidentally identified syringomyelia associated with Chiari I malformations who were monitored for more than 10 years, and to clarify the natural history of these lesions. METHODS: The clinical records ...

The authors have developed a new stereoscopic liquid crystal display that provides real-time 3-dimensional image viewing without special eyeglasses. The device consists of 3 major parts: (1) an image display composed of a 10.4-inch color liquid crystal plate with a resolution of 640 x 480, (2) an automatic head tracking ...

Three young patients with transient or intermittent focal neurological signs suggesting brain stem involvement are described, in whom high field MRI showed focal areas of hyperintensity in T2 weighted spin echo images, hypointensity in T2* weighted gradient echo images, and enhancement in postcontrast T1 weighted images consistent with unruptured capillary ...

Cerebral perfusion brain scintigraphy obtained in six unselected patients (age newborn to 14 years) from among 50 children with vein of Galen malformations was used in conjunction with magnetic resonance imaging to determine the basis of the neurological and cognitive abnormalities in patients with vein of Galen malformations (VGMs). Five ...

We present the angiographic and MR imaging course of a 62-year-old man with a right parietal high-flow arteriovenous malformation (AVM), which was diagnosed because of seizures. A spontaneous, complete, and asymptomatic occlusion of the AVM was confirmed by a second angiography 3 months later. The possible mechanisms leading to the ...

We describe three patients in whom we used MRI, including diffusion- and perfusion-weighted imaging (DWI, PWI) in conjunction with endovascular therapy. Two had intracranial aneurysms and one an arteriovenous malformation (AVM). The aneurysms were treated by coil embolisation or detachable balloons for proximal artery occlusion; the AVM was obliterated by ...

Limited in vivo data exist on the dysmorphology of the cranial base in nonsyndromic craniosynostosis. Few studies have documented the effect of calvarial surgery for synostosis on endocranial morphology. Previous work has suggested that the dysmorphology of the endocranial base is diagnostically specific for metopic, sagittal, and unicoronal sutures. The ...

BACKGROUND: "Glomangiomas" are benign cutaneous vascular lesions consisting of convoluted, abnormally formed venous channels lined by cuboidal and oval epithelioid, alpha-actin-positive, glomus cells. Three different clinical variants of glomangioma have been recognized: solitary, multiple, and nodular, or plaquelike. Inheritable forms are common. OBJECTIVE: We describe in 7 patients (2 of ...

PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of ...

Cerebral venous malformations have been diagnosed by angiographic features and are considered to be a benign anomaly. However, ample evidence indicates that stroke or similar symptomatology occurs in patients harboring a cerebral vascular malformation that was diagnosed angiographically as a venous malformation. The purpose of the study is to confirm ...

OBJECTIVE: Four types of cavernous malformations (Types I-IV) have been described on the basis of their magnetic resonance imaging (MRI) appearance. The nature of the Type IV cavernous malformation is unclear. It has been suggested that these small lesions, which are well observed only on gradient echo MRI scans, are ...

We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging ...

BACKGROUND AND PURPOSE: We investigated the use of hypofractionated stereotactic radiotherapy (HFSR) to reduce adverse radiation effects in comparison to single-fraction stereotactic radiosurgery (SRS) for intracranial arteriovenous malformations (AVMs). MATERIALS AND METHODS: This study includes 53 intracranial AVMs treated between 1991-1998. HFSR was selected for 26 AVMs with a maximum ...

Cyclopia is a rare foetal malformation characterized by a single palpebral fissure and a proboscis associated with severe brain malformation. Approximately 1.05 in 100 000 births including stillbirths are identified as cyclopian. Cyclopia is not compatible with life. The authors present an anatomical and histological study of the fronto-orbito-maxillary region ...

The crested breed of domestic duck (Anas platyrhynchos f. dom.) has been described as a variety which has high pre- and postnatal mortalities, malformations in skull and brain anatomy, and several central nervous deficiencies. In addition, intracranial tissue accumulations have been diagnosed in purebred Crested ducks. The incidence, heredity and ...

OBJECTIVE AND IMPORTANCE: Superficial siderosis is a rare but potentially devastating syndrome caused by recurrent subarachnoid hemorrhage. We present three cases of superficial siderosis associated with multiple cavernous malformations, and we review previous reports of superficial siderosis attributable to vascular malformations. CLINICAL PRESENTATION: Patients most commonly present with progressive sensorineural ...

We present the first report of extramedullary hematopoiesis (EMH) in an encephalocele. The patient was a new-born with semilobar holoprosencephaly, a frontoethmoidal encephalocele, and a large subdural hematoma. The encephalocele appeared as a hemorrhagic mass, protruding from the forehead to cover the right eye, without involvement of the sinuses or ...

OBJECTIVE: We previously reported the resolution of syringohydromyelia without cerebellar tonsillar ectopia in five patients after posterior fossa decompression of the so-called Chiari 0 malformation. A sixth patient is described. In this study, the anatomy of the posterior fossa is analyzed using radiological imaging, enabling features of the posterior fossa ...

We report a case of a 35-year-old patient presenting with a unique asymptomatic malformation associating extralobar pulmonary sequestration communicating with a bronchogenic cyst of the esophageal wall via the aortopulmonary window, dextroisomerism, and complete agenesia of the left pericardium. Despite computed tomography (CT) scan and magnetic resonance imaging (MRI), the ...

The case of an adult harboring a vein of Galen arteriovenous malformation (VGAM) is reported. Diagnosis was established by computed tomography (CT) and digital subtraction angiography and confirmed afterwards by transcranial color-coded sonography (TCCS). The patient's course after endovascular treatment was then consecutively monitored by TCCS until complete occlusion was ...

BACKGROUND AND PURPOSE: Macrocrania is a common pediatric clinical condition affecting up to 5% of the population. The purpose of this study was to determine clinical and imaging predictors that are useful in the differentiation of disorders requiring surgical treatment from those that can be treated medically in children with ...

BACKGROUND AND PURPOSE: Developmental changes in hippocampal formations (HFs) have been reported in association with agenesis of the corpus callosum, lissencephaly, and holoprosencephaly. The purpose of this study was to evaluate the developmental changes in HFs in patients with a variety of other congenital brain malformations. METHODS: MR images of ...

A 19-year-old male presented with sudden onset of right hemiparesis caused by left cerebral hemorrhage. Cerebral angiography demonstrated no vascular abnormality, and the hematoma was removed surgically. At operation, no abnormal vascular lesion was found in the brain adjoining the hematoma. Two years later, magnetic resonance (MR) imaging demonstrated a ...

BACKGROUND AND PURPOSE: The importance of the anterior choroidal artery (AChA) is related to its supply of crucial anatomic structures, such as the internal capsule. Angiographically, the AChA can be detected in 71% to 98% of patients, but as yet, its visibility on MR images has not been evaluated. Our ...

The diagnosis of Chiari I malformation and associated syringomyelia is often made in childhood. Since the advent of magnetic resonance imaging, these abnormalities are increasingly detected incidentally. Despite incomplete understanding of the natural history of asymptomatic Chiari I malformations, the current recommendation is to consider prophylactic surgical intervention in those ...

Vaginal arteriovenous malformations are rare entities and their most common presentation is vaginal haemorrhage. This case report describes a 22-year-old woman who presented at 20 weeks of gestation with slow growing soft and tender swelling at anterior vaginal wall. Diagnosis was confirmed as vaginal vascular malformation on contrast enhanced magnetic ...

Detailed knowledge of the angioarchitecture of arteriovenous malformations (AVMs) is necessary in determining the optimal timing and method of treatment of these challenging lesions. Many techniques are available for studying the functionality of surrounding cortical structures of AVMs. These include the use of positron emission tomography, functional magnetic resonance imaging, ...

A case of symptomatic congenital arteriovenous malformation detected in an adult patient is presented. The diagnosis was not suspected clinically but was demonstrated by CT and digital subtraction angiography. Although very rare, a congenital arteriovenous malformation of the posterior mediastinal aorta could present as a catastrophic event if it ruptures. ...