A case report of Wyburn-Mason syndrome and review of the literature

Introduction

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi.

Methods

We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n?=?26) in the English literature since 1973.

Results

In this review, we report on a 4½-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome.

Conclusion

The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.

     

Embolization of cranial/spinal tumours and vascular malformations with hydrogel microspheres. An experience of 69 cases

Objective: To evaluate polymethyl methacrylate hydrogel microspheres (HMs) as an embolization material in the management of hypervascular craniofacial and spinal lesions.Material and Methods: Sixty-nine patients with vascular lesions of the craniofacial and spinal regions underwent embolization with HM. The pathologies included craniofacial tumours (n=38), cranial arteriovenous malformations (AVMs) (n=7), dural AVM (n=1), cavernous carotid fistula (n=1), spinal tumours (n=7), spinal AVMs (n=6), orbital lesions (n=4) and scalp AVMs (n=5). Surgery was done in 56 patients. The blood loss at surgery, tumour shrinkage, surgical cleavage and ease of removal of tumour was noted from the records. Histopathology was available in 39 patients. A follow-up of 3 months to 6 years was available in 13 patients in whom embolization was the sole treatment. Surgical and histopathological findings were correlated with angio-embolization findings.Results: HMs were easy to inject through the microcatheter with good control. Good devascularization was obtained in 61 patients and partial in 8 patients. Two patients developed complications due to presence of anastomoses between intra- and extracranial circulation and 1 patient due to tumor swelling. Histopathology showed presence of HMs in all the lesions, with minimal inflammatory reaction in 2 patients. Patients with spinal lesions treated with embolization only stabilised in neurologic deficits.Conclusion: HMs are highly suitable as embolization agents in the management of craniofacial and spinal hypervascular lesions.     

Normal Venous Phase Documented during Angiography in Patients with Spinal Vascular Malformations: Incidence and Clinical Implications

BACKGROUND AND PURPOSE:A key angiographic sign observed in patients with spinal vascular malformations is the absence of a normal venous phase. While this finding alone is often believed to rule out a lesion impacting the perimedullary venous drainage, the observation of a venous phase in several patients with vascular malformations led us to reconsider the validity of that sign.MATERIALS AND METHODS:Eighty-one patients with 6 spinal arteriovenous malformations, 16 perimedullary arteriovenous fistulas, 61 spinal epidural or dural AVFs, and 1 paravertebral AVF (2 patients had multiple lesions) were reviewed. The venous phase was defined as normal, absent, or indeterminate. The venous phase timing was analyzed in patients with spinal dural or epidural AVFs.RESULTS:The existence of a venous phase could not be determined for technical reasons in 23 patients. A venous phase was documented in 25 of 58 patients (43%), including 16 of 49 vascular malformations (40.0%) with perimedullary venous drainage. Twelve of the 30 patients (40.0%) with dural or epidural AVFs had a normal venous phase, appearing, on average, 10.1 seconds and best visualized 15.0 seconds after opacification of the artery of Adamkiewicz.CONCLUSIONS:A normal venous phase was observed in 43% of patients with spinal vascular malformations, and within an acceptable delay (<18 seconds) in 40% of slow-flow AVFs. While it remains an important angiographic sign, the observation of a normal venous phase cannot be used to exclude the presence of a vascular malformation or justify interrupting a diagnostic spinal angiogram.

Spinal digital subtraction angiography (SpDSA) is the criterion standard imaging technique for the evaluation of the spinal vasculature and remains essential for the diagnosis and management of spinal vascular malformations (SVMs).¹ The practice of SpDSA requires a sound understanding of the vascular anatomy of the spinal cord, notably its venous system.^2,3 A key angiographic sign observed in patients with SVMs is the absence of a normal venous phase, a phenomenon first reported in 2 cases of spinal dural arteriovenous fistulas (SDAVFs).² It was later suggested that a spinal angiogram could be terminated when “a normal venous phase is visualized and the veins correspond to the defects on the myelogram,” an approach based on the assumption that “if the venous phase of the spinal circulation is normal, this alone rules out DAVF [dural AVF] as the cause of the patient''s symptoms.”⁴ While MR imaging has now supplanted myelography in the work-up of spinal vascular anomalies, the notion that the angiographic pursuit of an SVM can stop after the documentation of a normal venous phase is still widely accepted, though at times more cautiously. Some authors have, for example, suggested that a normal venous phase “usually”⁵ or “reportedly”⁶ allows terminating a diagnostic angiogram or that it only makes the “diagnosis of a fistula less likely.”⁷ To our knowledge, there is, so far, only 1 reported instance of a normal venous phase associated with a vascular malformation draining into the perimedullary system, but this case involved a cranial dural arteriovenous fistula rather than an SVM.⁸Several observations of a morphologically normal venous phase associated with lesions involving the perimedullary venous system have pushed us to reconsider the validity of this angiographic sign. The spinal venous phase was, therefore, evaluated in 81 patients diagnosed with an SVM in our practice during a 5-year period, with particular attention paid to SDAVFs and spinal epidural arteriovenous fistulas (SEAVFs).     

Comparison of 3 Different Types of Spinal Arteriovenous Shunts below the Conus in Clinical Presentation,Radiologic Findings,and Outcomes

BACKGROUND AND PURPOSE:Spinal arteriovenous shunts below the conus constitute 3 types of lesions, which have previously been mainly described in case reports, given their rarity, and are sometimes misdiagnosed. The purpose of this study was to describe the features of each type and compare these types as to epidemiologic features, clinical and radiologic presentations, treatment, and outcomes in a consecutive series of 48 cases.MATERIALS AND METHODS:The prospectively collected data bases of 2 referral centers for spinal vascular lesions were retrospectively reviewed. Spinal arteriovenous shunts below the conus were defined as all dural and intradural shunts below the conus medullaris. Clinical features, radiologic findings, treatment results, and clinical outcomes were assessed.RESULTS:There were filum terminale arteriovenous fistulas in 11 patients (22.9%), radicular arteriovenous shunts in 7 patients (14.6%), and spinal dural arteriovenous fistulas in 30 patients (62.5%). Radicular arteriovenous shunts presented at a younger age (P = .017) and with a higher incidence of back pain symptoms (P = .037). A tethered spinal cord was found in 54.5% of patients with filum terminale arteriovenous fistulas and 23.3% of patients with spinal dural arteriovenous fistulas. After treatment, the angiographic complete obliteration rate was 89.4% and spinal function was improved significantly (P < .001).CONCLUSIONS:Three groups of spinal arteriovenous shunts below the conus can be differentiated according to clinical and radiologic features. Filum terminale arteriovenous fistulas are frequently associated with dysraphic malformations, which may suggest a particular embryologic origin.

Spinal arteriovenous lesions are rare and complex neurovascular diseases that can be categorized according to embryologic considerations,¹ anatomic and imaging features,² or their locations.³ Among the spinal vascular malformations, arteriovenous shunts below the conus medullaris include some particular groups of lesions and are sometimes misdiagnosed due to similar clinical and radiologic presentations, which are worth addressing and differentiating separately.⁴ This group of lesions is distant from the spinal cord,^5,6 presents mainly with progressive myelopathy rather than hemorrhage, and may be associated with dysraphic malformations, which suggest a unique embryologic origin. If diagnosis and angioarchitecture are correctly identified, treatment is relatively simple compared with spinal vascular lesions in other locations.^7,8According to their feeding arteries, we can classify 3 different types of spinal arteriovenous shunts below the conus: shunts fed by the artery of the filum terminale (filum terminale arteriovenous fistulas [FTAVFs]), shunts fed by dural branches (spinal dural arteriovenous fistulas [SDAVFs]), and shunts fed by radicular arteries (radicular arteriovenous shunts [rAVSs]). Previously, these types of vascular malformations have been described mainly in smaller case series or case reports. Since Djindjian et al⁹ reported the first case of FTAVF, several case reports^10–13 and 2 patient series studies^14,15 have been published. rAVSs that are located on a nerve root of the cauda equina have been reported in 2 cases to date.¹⁶ SDAVFs in this region can have lumbar or sacral segmental artery supply and constitute approximately 23% of the dural AVFs in larger series.¹⁷ Clinical and epidemiologic features, their relative proportion to each other, and the associated malformations of these 3 different shunts below the conus have not been described however, and the differential diagnoses of the 3 groups have not been investigated in greater detail, presumably given their rarity.In this study, we review a series of 48 spinal arteriovenous shunts below the conus derived from the combined prospectively maintained data bases of 2 referral centers (Xuanwu Hospital, Beijing, China and Toronto Western Hospital, Toronto, Canada) and thus aim to compare epidemiologic features, clinical presentations, MR imaging and angiographic findings, treatment, and outcomes of 3 types of lesion at this location.     

Analysis of 30 Spinal Angiograms Falsely Reported as Normal in 18 Patients with Subsequently Documented Spinal Vascular Malformations

BACKGROUND AND PURPOSE:The early diagnosis of spinal vascular malformations suffers from the nonspecificity of their clinical and radiologic presentations. Spinal angiography requires a methodical approach to offer a high diagnostic yield. The prospect of false-negative studies is particularly distressing when addressing conditions with a narrow therapeutic window. The purpose of this study was to identify factors leading to missed findings or inadequate studies in patients with spinal vascular malformations.MATERIALS AND METHODS:The clinical records, laboratory findings, and imaging features of 18 patients with spinal arteriovenous fistulas and at least 1 prior angiogram read as normal were reviewed. The clinical status was evaluated before and after treatment by using the Aminoff-Logue Disability Scale.RESULTS:Eighteen patients with 19 lesions underwent a total of 30 negative spinal angiograms. The lesions included 9 epidural arteriovenous fistulas, 8 dural arteriovenous fistulas, and 2 perimedullary arteriovenous fistulas. Seventeen patients underwent endovascular (11) or surgical (6) treatment, with a delay ranging between 1 week and 32 months; the Aminoff-Logue score improved in 13 (76.5%). The following factors were identified as the causes of the inadequate results: 1) lesion angiographically documented but not identified (55.6%); 2) region of interest not documented (29.6%); or 3) level investigated but injection technically inadequate (14.8%).CONCLUSIONS:All the angiograms falsely reported as normal were caused by correctible, operator-dependent factors. The nonrecognition of documented lesions was the most common cause of error. The potential for false-negative studies should be reduced by the adoption of rigorous technical and training standards and by second opinion reviews.

Spinal vascular malformations can be subdivided into high-flow and low-flow lesions. The high-flow group includes spinal arteriovenous malformations and prominent perimedullary arteriovenous fistulas (PmAVF, Merland type 2 and 3¹). The low-flow group is principally made of spinal dural (SDAVF) and spinal epidural arteriovenous fistulas (SEAVF) as well as less common small PmAVFs (Merland type 1). Although the detection of fast-flow lesions is generally straightforward with noninvasive imaging because of the large size of the vessels involved, low-flow anomalies—which are more frequent—can represent a major diagnostic challenge. Low-flow arteriovenous fistulas typically occur in older men presenting with a venous hypertensive myelopathy secondary to the drainage of the fistula into the perimedullary venous system.^2–5 They are characterized by progressive courses and narrow therapeutic windows, yet their diagnoses are often established with considerable delay, if at all.⁵ This situation is in large part related to their nonspecific clinical presentations and the ambiguous noninvasive imaging characteristics of venous hypertensive myelopathy. Spinal DSA, the “gold standard” technique for the investigation of spinal vascular anomalies, remains necessary to identify and characterize these lesions. Modern spinal DSA is associated with extremely low risks of neurologic or systemic complications,⁶ but it is a technically demanding procedure that requires a methodical approach to offer a high diagnostic yield.This article analyzes the clinical and imaging characteristics of 18 patients with proved spinal vascular malformations but initial angiographic investigation reported as normal. The purpose of this review was to identify the factors that led to missed findings or inadequate studies and propose strategies aimed at reducing their impact.     

Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings

Benign vascular lesions can be classified into two categories depending on clinical behaviour and endothelial cell characteristics: neoplasms (haemangiomas) and vascular malformations. However, intraosseous vascular anomaly, previously called intraosseous haemangioma, is a very rare malformation. In our previous study, we described the first hereditary form of intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS). Characteristic findings are autosomal recessive inheritance, severe and diffuse intraosseous vascular malformation in all craniofacial bones without soft tissue involvement and associated mid-line abnormalities such as umbilical hernia and supra-umbilical raphe. In this paper, we discuss the imaging findings of this new disorder in detail.     

Sonographic evaluation of renal masses: Correlations with angiography

The value of sonography in the diagnosis of renal masses in a series of 119 consecutive histologically confirmed cases is presented. Sonography correctly identified 92% of the cystic and 90% of the solid renal masses. Causes of incorrect diagnoses included lesions smaller than 2 cm, masses in the left upper pole, diffusely infiltrating urothelial tumors, echogenic fatty lesions (early in our experience), and acute abscesses and hematomas. Angiography in the same series of cases correctly diagnosed 80% of the cystic and 88% of the solid renal masses. Avascular lesions were the main cause for equivocal or incorrect angiographic diagnoses. We conclude that sonography is more definitive than angiography in the diagnosis of avascular masses, while angiography excels when the lesion is vascular or small. Combining the sonographic and angiographic findings allowed accurate diagnosis in over 99% of the cases.     

Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years

BACKGROUND AND PURPOSE:Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.MATERIALS AND METHODS:Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.RESULTS:Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (ENG) mutations and 12.5% in activin receptor-like kinase (1ACVRL1) mutations.CONCLUSIONS:Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder affecting vascular beds in multiple organ systems. Pathognomonic vascular lesions in HHT include arteriovenous malformations and telangiectasias of the skin, mucous membranes, and visceral organs, including the lung, liver, gastrointestinal tract, brain, and spinal cord.¹ HHT is diagnosed clinically by using the Curacao criteria,² which include spontaneous and recurrent epistaxis, mucocutaneous telangiectasias (lips, oral cavity, face and fingers), visceral AVMs (brain, liver, gastrointestinal, lung, and so forth), and a diagnosis of HHT in a first-degree relative by using the same criteria. Patients who meet ≥3 of the 4 criteria are labeled as having “definite HHT,” while those with 2 of the 4 criteria are labeled as having “possible” or “suspected” HHT.³Patients with HHT can present with myriad CNS complications, including vascular malformations of the brain and spinal cord. There has been much interest in studying the prevalence, characteristics, and natural history of brain AVMs (BAVMs) and other vascular anomalies in patients with HHT due to their associated morbidity. While several studies have examined the prevalence of vascular malformations and anomalies in patients with HHT, few have sought to provide a detailed characterization of the anatomic, angiographic, and clinical correlates of these lesions. The aims of the present study were the following: 1) to determine the prevalence of cerebral vascular lesions, including BAVMs and nonshunting vascular lesions such as developmental venous anomalies (DVAs), intracranial aneurysms, and cavernous malformations in the HHT population; 2) to subclassify BAVMs by using previously described criteria⁴; and 3) to determine whether there are any associations between the presence of BAVMs and demographic variables, vascular lesions in other organs, and genetic mutation status.     

Imaging findings of vascular lesions in the head and neck

Vascular lesions of the head and neck include vascular neoplasms, vascular malformations, and hypervascular lesions, derived from nonvascular soft-tissue elements. We retrospectively evaluated magnetic resonance imaging and computed tomography images of vascular lesions located in the head and neck. Twelve patients (seven males, five females) aged 1–68 years (mean age, 35.25 years) were included in this study. Most of the vascular lesions in our study were histologically diagnosed. The lesions were as follows: a hemangioma located in the parotid space (n=1); a hemangioendothelioma located in the parotid space (n=1); a hemangiopericytoma located in the larynx (n=1); a juvenile angiofibroma located in the nasopharynx (n=1); a glomus tumor located in the carotid bifurcation (n=1); venous malformations located in the parapharyngeal space, the pterygoid area, the orbital space, and the larynx (n=4); lymphatic malformations located in the parotid space and the supraclavicular area (n=2); and an arteriovenous malformation located in the infratemporal fossa (n=1). We present rare vascular lesions of the head and neck, which have typical radiological findings.The International Society for the Study of Vascular Anomalies (ISSVA) classification system provides an approach based on histopathology, clinical course, and treatment (1). The ISSVA classification system divides vascular anomalies into two primary biological categories: vascular neoplasms and vascular malformations. Vascular neoplasms include infantile hemangioma, congenital hemangioma, hemangioendothelioma, tufted angioma, angiosarcoma, and dermatologic acquired vascular neoplasms. Vascular malformations include low-flow malformations (capillary, venous, and lymphatic), high-flow malformations (arterial malformation, arteriovenous malformation, and arteriovenous fistula), and combined malformations (i.e., venolymphatic malformation). Vascular neoplasms have increased endothelial cell turnover (i.e., they proliferate and undergo mitosis), whereas vascular malformations are structural abnormalities of the capillary, venous, lymphatic, and arterial system that grow in proportion to the child (1). There are also lesions, which demonstrate marked neovascularity despite being derived from nonvascular soft-tissue elements. These hypervascular lesions should be distinguished from the vascular endothelial cell-derived neoplasms existing in the ISSVA classification system.We retrospectively evaluated magnetic resonance imaging (MRI) and computed tomography (CT) images of vascular lesions located in the head and neck, between 2005 and 2008 in our institution. Twelve patients (seven males, five females) aged 1–68 years (mean age, 35.25 years) were included in this study. Informed consent was obtained from all patients. We identified two vascular neoplasms existing in the ISSVA classification sytem: a congenital hemangioma and a hemangioendothelioma. In addition, we identified a hemangiopericytoma, a juvenile angiofibroma, and a glomus tumor, which are hypervascular lesions derived from nonvascular soft-tissue elements. There are four venous malformations, two lymphatic malformations, and an arteriovenous malformation in our study. Most of these vascular lesions were histologically diagnosed. Examinations were performed by a 16-slice CT and a 1.5 Tesla magnetic resonance scanner.     

Cranial MR imaging in hypomelanosis of Ito

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome frequently associated with neurologic abnormalities. Approximately 95 cases have been reported in the literature. Intracranial findings demonstrated by magnetic resonance imaging in a patient with HI include hemimegalencephaly, abnormal white matter signal, and small discrete bilateral periventricular cysts. No gray matter heterotopias or other migrational abnormalities were identified. Periventricular cystic lesions have not been described previously in this condition.     

Spontaneous resolution of low-flow spinal arteriovenous fistulas

Purpose

Spinal vascular anomalies with arteriovenous blood shunting include spinal arteriovenous malformations (SAVMs) and spinal arteriovenous fistulas (SAVFs), which are distinguished by the presence or absence of an interposed nidus. SAVFs can be further characterized based on their location (perimedullary, dural, or extradural) and flow pattern (high-flow versus low-flow shunts). The spontaneous resolution of a spinal vascular malformation, i.e., the complete disappearance—in the absence of therapeutic measures—of a lesion previously identified by angiography, seems to represent an exceptional phenomenon.

Methods

This study retrospectively analyzed seven patients with spontaneously resolving spinal vascular malformations observed by the senior author between January 2008 and April 2017.

Results

A total of 143 spinal vascular malformations were angiographically evaluated during the considered time period, including nine spontaneously resolving SAVFs in six patients, seven spinal epidural fistulas, and two spinal dural arteriovenous fistula.

Conclusion

The “spontaneous” resolution of spinal vascular malformations appears to selectively involve SAVFs. While vessel wall alterations previously documented on the venous side of SAVFs may play an important role in the regression of these lesions, angiography seems to represent a significant contributing factor, probably through the prothrombotic properties of nonionic contrast agents.

     

Cross-sectional imaging of idiopathic solitary renal vein varix: Report of two cases

Two cases of solitary renal vein varices are reported which presented as incidental findings on abdominal computed tomography (CT) and were initially thought to represent retroperitoneal lymph nodes. Contrast-enhanced CT, magnetic resonance imaging (MRI), and Doppler ultrasound (US), all demonstrated the vascular nature of these masses suggesting the correct diagnosis. When a rounded soft tissue density mass is seen on noncontrast-enhanced CT either in or contiguous to the renal hilum, a renal vein varix must be excluded. Doppler US, MRI, or dynamic contrast-enhanced CT should be done to exclude a renal varix as the cause.     

Abnormal origins of the long head of the biceps tendon can lead to rotator cuff pathology: a report of two cases

Previous case reports have highlighted various anomalous origins of the long head of the biceps tendon (LHBT) that do not originate from the superior glenoid labrum or supraglenoid tubercle. Yet, these cases were all reported as incidental findings and were not thought to cause any significant shoulder pathology. We present the magnetic resonance (MR) imaging and clinical treatment of two cases where aberrant intra-articular origins of the long head of the biceps tendon from the anterior edge of the supraspinatus tendon may have contributed to symptomatic rotator cuff pathology. Arthroscopy confirmed MR findings of partial articular-sided supraspinatus lesions in close proximity to the anomalous origins and treatment with tenodesis of the LHBT successfully relieved symptoms. Although rare occurrences with subtle and potentially misleading imaging findings, it is important to be aware of aberrant origins of the LHBT that may contribute to concomitant rotator cuff pathology.     

Magnetic resonance spectroscopy markers of axons and astrogliosis in relation to specific features of white matter injury in preterm infants

Introduction

Punctate white matter lesions (pWMLs) and diffuse excessive high signal intensity (DEHSI) are commonly observed signal abnormalities on MRI scans of high-risk preterm infants near term-equivalent age. To establish whether these features are indicative abnormalities in axonal development or astroglia, we compared pWMLs and DEHSI to markers of axons and astrogliosis, derived from magnetic resonance spectroscopy (MRS).

Methods

Data from 108 preterm infants (gestational age at birth 31.0 weeks?±?4.3; age at scan 41.2 weeks?±?6.0) who underwent MR examinations under clinical indications were included in this study. Linear regression analyses were used to test the effects of pWMLs and DEHSI on N-acetyl-aspartate (NAA) and myoinositol concentrations, respectively.

Results

Across the full sample, pWMLs were associated with a reduction in NAA whereas moderate to severe DEHSI altered the normal age-dependent changes in myoinositol such that myoinositol levels were lower at younger ages with no change during the perinatal period. Subgroup analyses indicated that the above associations were driven by the subgroup of neonates with both pWMLs and moderate to severe DEHSI.

Conclusion

Overall, these findings suggest that pWMLs in conjunction with moderate/severe DEHSI may signify a population of infants at risk for long-term adverse neurodevelopmental outcome due to white matter injury and associated axonopathy. The loss of normal age-associated changes in myoinositol further suggests disrupted astroglial function and/or osmotic dysregulation.     

Computed tomographic findings in suburothelial hemorrhage

Retroperitoneal hemorrhage with associated intramural hemorrhage into the renal pelvis and proximal ureter is a well documented complication of coagulation defects. The urographic characteristics of this condition have been well documented by several authors [1–4], but to our knowledge the computed tomographic (CT) findings in patients with this condition have not been reported previously. We describe the CT findings in 2 such cases; one related to thrombocytopenia in leukemia, and the other to anticoagulant therapy in a patient with Budd-Chiari syndrome.     

Ultrasonographic evaluation of peyronie’s disease

High-resolution ultrasonography was performed on 58 patients with Peyronie’s disease and on 6 healthy men; in 3 patients the examination was repeated during medical treatment for a follow-up period of 4 months. Peyronie’s plaques always corresponded to abnormal echographic findings. In 54/58 cases (93%) they appeared as hyperechoic lesions. In 4 cases (7%) the plaques were hypoechoic and corresponded to a localized widening of the pericavernous tissues: this condition was observed more frequently in the earliest stages of the disease. There was good agreement between the palpable size of the plaques and their size measured by ultrasonography, with some degree of clinical overestimation of the smallest lesions. Calcified mature plaques corresponded to dense hyperechoic lesions with acoustical shadowing. High-resolution ultrasonography is proposed as a first-line diagnostic approach and as a reliable follow-up examination for Peyronie’s disease. The possibility of differentiating calcified plaques from the more recent ones is helpful to allow a correct choice of medical or surgical treatment.     

Sudden death and the forensic evaluation of neurocutaneous syndromes

On occasion the forensic evaluation of individuals who have died suddenly and unexpectedly may reveal intracranial vascular abnormalities such as capillary, venous- and arteriovenous malformations. Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems. These unusual conditions include Sturge–Weber, Osler–Weber–Rendu, Klippel–Trenaunay, Von Hippel-Lindau, Proteus and Wyburn-Mason syndromes in addition to ataxia telangiectasia. Causes and mechanisms of unexpected death include epileptic seizures, intracranial haemorrhage and thromboses. Differentiating these conditions at autopsy is important because of variable inheritance patterns and occasionally inaccurate clinical classifications. The autopsy evaluation requires review of the medical and family histories, and full external and internal examinations with photographic documentation and histologic sampling of lesions. Formal neuropathology, storage of blood and tissues for molecular studies if required, and liaison with a medical geneticist should be considered.     

Cerebrofacial venous metameric syndrome—spectrum of imaging findings

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or “metameric” distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide spectrum of CVMS phenotypical presentations exist with various metameric distributions of slow-flow vascular lesions including facial venous vascular malformations, developmental venous anomalies, venous angiomas, cavernous malformations (cavernomas), dural sinus malformations, and maybe even vascular tumors such as cavernous hemangiomas. Awareness of the various manifestations as described herewith is important for treatment and screening purposes.     

External hydrocephalus: radiologic spectrum and differentiation from cerebral atrophy

The MR scans of 24 patients who had findings previously reported to be characteristic of occult cerebral vascular malformations were reviewed to demonstrate that such findings may also occur in primary or secondary neoplasms. Eighteen of the 24 patients were found to have hemorrhagic neoplasms. Additional criteria, such as multiplicity of lesions and the presence of edema, were of some help in differentiating between occult vascular malformation and hemorrhagic neoplasm. In certain cases, CT was necessary to provide further information, such as the presence of calcification; however, an absolute and accurate diagnosis was impossible in several cases. The striking similarity on MR between cryptic vascular malformation and some hemorrhagic neoplasms is most likely due to the unifying mechanisms that underlie the evolution of extravascular intracerebral blood. Although the preponderance of neoplastic etiologies in our series may be partly due to the strong bias in our sample population toward patients with tumors, it seems clear that when an MR scan discloses findings "typical" of an occult vascular malformation, consideration must also be given to the generally more serious possibility of underlying neoplasm.