Capillary Telangiectasia Research Articles

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal. Differential diagnosis included cavernous hemangioma, capillary telangiectasia, and cerebellar hemorrhage. Subsequent fetal cerebral MRI showed diffuse bilateral cerebellar modifications, reduced cranio-caudal diameter of the vermis, and pathological elongation and thickening of the superior cerebellar peduncles indicative of the molar tooth sign. Amniocentesis and whole exome sequencing identified two heterozygous truncating variants in the LAMA1 gene: c.3099G > A (p.Trp1033Ter) and c.3699T > A (p.Tyr1233Ter), confirming PBS.) Following the diagnosis, the pregnancy was terminated at 23 weeks and 5 days. Post-mortem examination supported the MRI findings consistent with PBS. This case highlights the importance of integrating ultrasound, MRI, and genetic analysis for accurate prenatal diagnosis and emphasizes the molecular diversity associated with PBS, including the presence of molar tooth sign mimics and a novel c.3699T > A variant.

Angiographic Characteristics in Mild Familial Exudative Vitreoretinopathy with Genetically Confirmed Autosomal Dominant Inheritance

PurposeTo determine the ultra-widefield fluorescein angiographic (UWFA) characteristics of patients with mild familial exudative vitreoretinopathy (FEVR) who had been confirmed to have pathogenic variants of the autosomal dominant (AD) genes of FEVR. DesignSingle center, observational case series. Subjects and ControlsThirty-seven patients with mild FEVR from 27 families who had pathogenic variants of the Norrin/β-catenin genes were studied. The controls consisted of 32 family members who had been confirmed not to carry the pathogenic variants or had heterozygous variants of the autosomal recessive inheritance gene. MethodsSixty-four UWFA images from the patients were compared to 60 UWFA images from the controls. The relative length of the temporal retina to the peripheral avascular retina was determined. The cut-off ratio of the relative lengths for a clinically significant avascular retina (csAR) associated with AD-FEVR was determined using the receiver operating characteristic (ROC) curves. Main Outcome MeasuresThe presence or absence of six peripheral vascular changes: csAR, V-shaped vascular notch, brushy vascular ends, vascular stain, loop vessels and/or anastomosis, and capillary telangiectasia were compared between the patients and the controls. ResultsThe csAR was set at >12% of the length from the ora serrata to the optic disc. The AD-FEVR patients had more frequent retinal changes than the controls for the V-shaped vascular notch (69% vs 2%, P <0.001), brushy vascular ends (78% vs 3%, P <0.001), csAR (83% vs 22%, P <0.001), and vascular stain (70% vs 33%, P <0.001). Loop vessels and/or anastomosis of peripheral vessels were found significantly less frequently in the patients than in the controls (39% vs 73%, P <0.001). No significant difference was found for capillary telangiectasia between the two groups. The combination of the V-shaped vascular notches, brushy vascular ends, and csAR had a sensitivity of 82.8% and specificity of 98.3% with the highest ROC curve of 0.9. ConclusionsThe combination of V-shaped vascular notch, brushy vascular ends, and csAR can be used as a biomarker for AD-FEVR patients who have pathogenic variants of the Norrin/β-catenin genes. These findings will allow more accurate segregation analysis in FEVR families and allow better genetic counseling.

Intracranial cerebrovascular lesions on T2-weighted magnetic resonance imaging.

Magnetic resonance imaging (MRI) of the brain has been implemented to evaluate multiple intracranial pathologies. Non-contrast T2-weighted images are a routinely acquired sequence in almost all neuroimaging protocols. It is not uncommon to encounter various cerebrovascular lesions incidentally on brain imaging. Neuroradiologists should evaluate the routine T2-weighted images for incidental cerebrovascular lesions, irrespective of the primary indication of the study. Vascular structures typically demonstrate a low signal flow-void on the T2-weighted images. In our experience, large cerebrovascular abnormalities are easily visible to a typical neuroradiologist. In this article, we present the spectrum of the characteristic imaging appearance of various intracranial cerebrovascular lesions on routine non-contrast T2-weighted MRI. These include aneurysm, arteriovenous malformation, arterial occlusion, capillary telangiectasia, cavernous malformation, dural arteriovenous fistula, moyamoya, proliferative angiopathy, and vein of Galen malformation.

Congenital Intracranial Vascular Malformations in Children : Radiological Overview.

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

뇌교 및 연수 해면상혈관종에 대한 telovelar 접근법의 수술 결과 및 뉘앙스

Background: Brainstem cavernous malformations (CMs) are characterized by dilated sinusoidal channels related to capillary telangiectasia and developmental venous anomalies. Brainstem CM hemorrhages present with focal neurological symptoms, according to their invasive lesions. Surgical removal should be considered for symptomatic and recurrent bleeding of brainstem CMs. Despite the risk of surgery with highly eloquent tissue, surgical removal should be performed to protect patients from stepwise decline due to recurrent hemorrhage. The approaches for treating brainstem CMs are retrosigmoid, far lateral, midline suboccipital with or without telovelar, orbitozygomatic, and supracerebellar-infratentorial. Pontine and medullary CMs are approached via retrosigmoid, far lateral, and suboccipital craniotomies, with or without the telovelar approach. &#x0D; Materials and Methods: The telovelar approach is the standard approach used for pontine brain-stem CMs. Patients with brainstem CMs treated using the telovelar approach were enrolled from three institutions. &#x0D; Results: All three patients had no further neurological deficits after surgery. &#x0D; Conclusions: The surgical results suggest that the telovelar approach for pons and pontomedul-lary junction brainstem CMs is safe and effective.

Prevalence of Retinal Venous Malformations in Patients With Cerebral Cavernous or Arteriovenous Malformations.

Cerebral vascular malformations (CVMs) may result in hemorrhage, seizure, neurologic dysfunction, and death. CVMs include capillary telangiectasias, venous malformations, cavernous malformations, and arteriovenous malformations. Cavernous and arteriovenous malformations carry the highest risk of complications. Retinal venous malformations (RVMs) have been proposed as an associated finding. Our objective was to determine the prevalence of RVMs in patients with high-risk CVMs. We retrospectively reviewed patients diagnosed with cerebral cavernous or arteriovenous malformations (high-risk CVMs) who were evaluated by the ophthalmology service at Northwestern University between 2017 and 2020. Patients were stratified into 3 cohorts based on level of certainty: dilated funduscopic examination (DFE), DFE with any form of ocular imaging, and DFE with complete imaging of the macula. We recorded ophthalmic examination abnormalities, ocular imaging findings, and major CVM complications. We evaluated 156 patients with high-risk CVMs who had undergone DFE. Ocular imaging of any type was performed in 56 patients, of whom 46 had complete imaging of the macula. Zero RVMs were identified in any cohort (95% confidence interval: 0%-1.9% for the entire cohort, 0%-5.4% for any ocular imaging cohort, and 0%-6.5% for the complete macular imaging cohort). Cerebral hemorrhage or seizure occurred in 15%-33% of patients. Associated visual field defects or cranial nerve palsies were found in 14%-20% of patients. Zero RVMs were identified in patients with high-risk CVMs. However, neuro-ophthalmic findings were common. Therefore, we recommend neuroimaging for patients with RVMs and neuro-ophthalmic signs or symptoms. In asymptomatic patients with RVMs, a potential algorithm for neuroimaging is proposed.

Retiform endothelial hyperplasia mimicking cavernous malformation as a late complication of Gamma Knife radiosurgery.

Gamma Knife radiosurgery (GKRS) is a powerful tool for the management of arteriovenous malformations; however, newly formed mass lesions resembling cavernous malformations are a rare late complication of GKRS. In this retrospective study, the authors tried to clarify the unique histological features of these mass lesions. The authors retrospectively reviewed the clinical course of 889 patients who had undergone GKRS for arteriovenous malformations at their institute from 1991 to 2021. Among the 848 patients who had been followed up periodically with neuroradiological imaging, 37 developed a mass lesion mimicking a cavernous malformation and underwent surgical removal of the lesion. The median volume of the original nidus was 3.7 cm3 (range 0.07-30.5 cm3), and the median prescription dose was 21 Gy (range 12-25 Gy). The histological characteristics and radiological and clinical features of the 37 patients were investigated. Histological examination showed an organized hematoma and a structure termed "retiform endothelial hyperplasia" (RFEH) consisting of endothelium forming multiple lumen-like vascular channels mimicking cavernous malformations but lacking the subendothelial connective tissue that forms the typical vascular wall structure found in cavernous angioma and capillary telangiectasia. RFEH was detected a median of 10.8 years (range 3.2-27.4 years) after GKRS. Neuroimaging showed hematoma surrounded by massive brain edema in all 37 patients. Symptoms caused by mass effect of the lesion and perifocal edema worsened relatively rapidly but completely disappeared after surgery. No recurrence or morbidity occurred after the surgery. The delayed formation of RFEH that is mimicking a cavernous malformation neuroradiologically but is histologically distinct from a vascular malformation is a potential complication of GKRS. Its progressive clinical course suggests that surgical removal should be considered for symptomatic patients and/or patients with an apparent radiological mass sign.

Radiation Retinopathy: Pathogenesis, Diagnosis, and Treatment

Radiation retinopathy is chronic retinopathy that usually after radiotherapy with delayed onset (6 months-3 years) and slow progression. The primary vascular event is endothelial cell loss. Clinically affected individuals may be asymptomatic or may describe decreased visual acuity. Combining anamnesis, complete ophthalmologic examination, and multimodal imaging is essential for diagnosis. The ophthalmological examination may reveal signs of retinal vascular disease such as microaneurysms (the first structural change detected ophthalmoscopically), cotton wool spots, retinal hemorrhages, perivascular sheathing, capillary telangiectasia, macular edema, and optic nerve head edema. Optical coherence tomography can detect macular edema, intraretinal hyperreflective spots that may develop secondary to ischemia, disorganization in the inner retinal layers, and deterioration in the outer retina. Fundus fluorescein angiography helps detect capillary perfusion anomalies and other signs of vascular disease. Diabetic retinopathy, retinal vein occlusion, ocular ischemic syndrome, hypertensive retinopathy, Coats' disease, and parafoveal telangiectasia should be considered in the differential diagnosis, and sometimes these diseases may accompany radiation retinopathy. Currently, there is still no standard treatment for radiation retinopathy. Anti-vascular endothelial growth factors (anti-VEGF) and steroid therapy are among the effective treatment options. Retinal laser photocoagulation can be applied for neovascular complications. For macular edema, focal laser photocoagulation was less effective than anti-VEGF and steroid therapy in terms of functional gain.

Bilateral macular telangiectasias with macular edema in a patient on incessant diethylcarbamazine medication – A case report

Macular telangiectasia is characterized by bilateral alterations of the macular capillary network and neurosensory atrophy, but it is very rarely associated with macular edema. Presented here is a case with bilateral macular capillary telangiectasias with severe macular edema and subretinal fluid accumulation. Here, a proposed mechanism for the injury to the capillaries, causing telangiectasias and edema, is the toxicity of drug diethylcarbamazine, which the patient had been self-administering for lymphatic filariasis for 20 years. The drug at increased concentrations is known to accentuate free radical–mediated cellular injury by inhibiting the lipooxygenase pathway.

Relation of interdigitation zone changes and right-angle vessels in Macular Telangiectasia Type-2 (MacTel).

To study the relation between interdigitation zone (IDZ) and right-angle vessel (RAV) in Macular Telangiectasia Type-2 (MacTel). A total of 43 eyes of 38 patients with presence of definite RAV on colour fundus photograph (Gass and Blodi-only stage-3) were confirmed on multimodal imaging. The relation of IDZ changes and associated ellipsoid zone (EZ) alterations on spectral-domain optical coherence tomography (OCT) with RAV were studied at baseline and these OCT changes were followed up in 15 eyes over a mean of 3.86 years. A total of 58 RAVs were found in the 43 eyes and 53/58 (91.3%) RAVs were associated with IDZ alterations in 39 eyes. On follow-up, IDZ attenuation progressed to IDZ loss and subsequent EZ attenuation and loss. A pre-existing IDZ loss was associated with subsequent EZ defect (P = 0.002). In 36 eyes that had OCT angiography, eyes with RAV showed deep capillary plexus telangiectasia in all 36 (100%) eyes and 32/36 (89%) eyes showed IDZ changes with or without EZ loss. IDZ attenuation and/or loss are associated with RAV and may serve as predictor of EZ loss in MacTel.

Predictive factors for microvascular recovery after treatments for diabetic retinopathy

BackgroundTo identify factors associated with microvascular recovery after intravitreal bevacizumab or panretinal photocoagulation (PRP) in diabetic retinopathy (DR).MethodsWe retrospectively reviewed 320 eyes/patients with DR treated with intravitreal bevacizumab and/or PRP. Two consecutive fluorescein angiographies (FAs) of each eye were compared. The number of microaneurysms and the area of capillary non-perfusion were calculated automatically using ImageJ software. Microvascular recovery was defined as a marked reduction in the numbers of microaneurysms (< 20%) or a marked reduction in the area of capillary non-perfusion (< 50%) in 45-degree fields or a complete regression of new vessels in ETDRS 7 standard fields. Baseline FA findings and changes in the ocular and systemic factors were analyzed.ResultsTwenty-eight (8.8%) of the 320 total eyes were found to meet the criteria of microvascular recovery after the treatments. Multivariate analysis revealed the presence of diffuse capillary telangiectasis (P = .003) and late disc leaking (P = .007) on baseline FA and a reduction of glycated hemoglobin (P = .005) during the follow-up period were predictive factors of microvascular recovery after the treatments. Although the microvascular recovery group presented with a significant improvement of BCVA after the treatments, the baseline BCVA could not predict the microvascular recovery after the treatments.ConclusionsDiffuse capillary telangiectasis or late disc leaking on baseline FA and improved glycemic control positively predicted the microvascular recovery after treatments for DR.

In Response to: Dicpinigaitis AJ, Ogulnick JV, Mayer AS, Gandhi CD, Al‐Mufti F. Increase in Ruptured Cerebral Arteriovenous Malformations and in the United States: Unintended Consequences of the ARUBA Trial? Stroke Vasc Interv Neurol . 2022;0:e000442. https://doi.org/10.1161/SVIN.122.000442

In Response to: Dicpinigaitis AJ, Ogulnick JV, Mayer AS, Gandhi CD, Al‐Mufti F. Increase in Ruptured Cerebral Arteriovenous Malformations and in the United States: Unintended Consequences of the ARUBA Trial? <i>Stroke Vasc Interv Neurol</i> . 2022;0:e000442. https://doi.org/10.1161/SVIN.122.000442

Pontine capillary telangiectasia mimicking active demyelinating plaque in a patient with multiple sclerosis.

Pontine capillary telangiectasia mimicking active demyelinating plaque in a patient with multiple sclerosis.

Atlas of Nervous System Vascular Malformations: A Systematic Review.

Vascular malformations are frequent in the head and neck region, affecting the nervous system. The wide range of therapeutic approaches demand the correct anatomical, morphological, and functional characterization of these lesions supported by imaging. Using a systematic search protocol in PubMed, Google Scholar, Ebsco, Redalyc, and SciELO, the authors extracted clinical studies, review articles, book chapters, and case reports that provided information about vascular cerebral malformations, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 385,614 articles were grouped; using the inclusion and exclusion criteria, three of the authors independently selected 51 articles about five vascular cerebral malformations: venous malformation, brain capillary telangiectasia, brain cavernous angiomas, arteriovenous malformation, and leptomeningeal angiomatosis as part of Sturge–Weber syndrome. We described the next topics—“definition”, “etiology”, “pathophysiology”, and “treatment”—with a focus on the relationship with the imaging approach. We concluded that the correct anatomical, morphological, and functional characterization of cerebral vascular malformations by means of various imaging studies is highly relevant in determining the therapeutic approach, and that new lines of therapeutic approaches continue to depend on the imaging evaluation of these lesions.

Management of anesthesia in cerebellum cavernous with developmental venous anomaly that causes acute cerebellar bleeding following COVID-19 infection

Cerebellum cavernous also known as cavernous hemangioma is a vascular malformation of the cerebellum, usually with characteristics that appear on the magnetic resonance image (MRI). Cerebellum cavernous is the third most malformation of the cerebellum after venous anomalies and capillary telangiectasis with an incidence of 0.5% of the General population usually not noticed until a hemorrhagic event occurs. Cavernomas can be seen in conjunction with developmental venous anomaly (DVAs) in 20% (range 20%-40%) cases, in which case they are known as mixed vascular malformations. We describe anaesthetic management in a 28-year-old woman with cerebellum cavern with developmental venous anomaly (DVAs) that causes acute bleeding. Occipital craniectomy for cerebellar tumor resection is performed using neuronavigation under total intravenous anesthesia and scalp block using 0.5% ropivacaine without complications. The surgery lasts for six hours and the cavernomas can be removed completely. The patient was discharged home on the fifth day of postoperative surgery with no neurological deficit.

Capillary telangiectasia

Brain capillary telangiectasia is usually a small collection of dilated capillary-like vessels. In most cases it is aharmless incidental finding with no clinical significance. They are most commonly located in the pons. In terms of image morphology, they show brush-like signal extinction in T2*/SWI (susceptibility-weighted imaging) sequences and contrast enhancement in T1-weighted images. Other sequences are usually unremarkable unless they involve unusually large capillary telangiectasias. Angiographically they usually remain silent. Sometimes they are associated with venous abnormalities and/or cavernomas. Their distinctive radiographic features usually allow for areliable diagnosis. Differential diagnostic considerations, such as differentiation from atumorous or inflammatory process, are sometimes necessary.

Pathological Spectrum of Vascular Malformations of the Central Nervous System: A Single Institution Experience of a Decade

Abstract Background Vascular malformations (VMs) of the central nervous system comprise a variety of lesions that could affect the arteries, veins, or capillaries. Materials and Methods We analyzed the histopathological features of all the VMs diagnosed at our centre over a decade. Results Intracranial VM included arteriovenous malformation (AVM) (53%), cerebral cavernous malformations (CCMs) (45%), capillary telangiectasia (2%), venous angioma (0.5%), and arteriovenous fistula (AVF) (0.5%). In spinal VMs, capillary telangiectasia (40%) were the most common, followed by cavernomas (34%), AVF (16%), and AVMs and venous angiomas (5%). Clinical presentation varied from focal deficit to features of raised intracranial tension. Conclusion Imaging and histopathology plays an important role in the diagnosis and management of VMs. Histopathological examination is essential for characterization of the VMs, which influences the prognosis.

One-year follow-up of optical coherence tomography angiography microvascular findings: macular telangiectasia type 2 versus tamoxifen retinopathy.

To compare microstructural and microvascular changes in eyes with macular telangiectasia type 2 (MacTel2) and in those with tamoxifen retinopathy (TR) at baseline and at the 1-year follow-up using optical coherence tomography (OCT) and OCT angiography (OCTA). We followed up patients diagnosed with MacTel2 or TR for at least 1year. We included 17 patients with MacTel2 (31 eyes) and 15 with TR (25 eyes) who discontinued tamoxifen use after a TR diagnosis. We performed OCT and OCTA at baseline and after 1year. Patients with MacTel2 and TR showed intraretinal cavitation, ellipsoid zone (EZ) loss, and capillary telangiectasia in the superficial and deep plexuses. EZ disruption predominantly affected the temporal region in MacTel2 (32%) and was limited to the foveal center in TR (24%). Vascular density (VD) was significantly reduced within the deep temporal parafovea and superficial fovea in MacTel2 and TR eyes, respectively. After 1year, the MacTel2 eyes showed enlarged EZ loss, proliferative vascular invasion, and increased VD (p = 0.021) in the temporal deep plexus compared with TR eyes. After 1-year follow-up, the MacTel2 eyes showed proliferative vascular remodeling, particularly in the temporal parafovea of the deep plexus with EZ loss progression, whereas the TR eyes maintained their baseline capillary rarefaction.

Radiotherapy alone for pediatric patients with craniopharyngioma.

Radiotherapy alone, without tumor-directed surgery, may be appropriate for selected patients with craniopharyngioma reducing the risks associated with neurosurgery. Understanding outcomes for patients with craniopharyngioma treated with radiotherapy alone will further refine patient selection and treatment options. Since 2002, 13 children, adolescents and young adults, with craniopharyngioma were treated with radiotherapy alone and followed for disease control and functional outcomes at a single institution. The median age at treatment was 13years (range, 3-21years). All patients received 54Gy/54Gy(RBE) in 30 fractions. Five patients were treated with intensity-modulated photon therapy, four with passively scattered proton therapy, and four with intensity-modulated proton therapy. With a median follow-up of 5years (range 3months-14years), all patients were alive. One experienced tumor progression 8.5years after treatment. No significant changes in vision, hearing or neurologic function attributed to radiotherapy. Hormone deficiencies and body mass index were within the expected range at baseline and 5years after treatment. There was no evidence of cognitive decline based on assessment of IQ, memory and attention. Unexpected complications included single cases of out-of-field malignancy, white matter changes, large vessel narrowing, and pontine capillary telangiectasia. Six patients had sphenoid bone abnormalities on follow-up imaging attributed to radiotherapy. Radiotherapy alone is an important treatment option to consider when radical resection is contraindicated, or surgical intervention is not required to alleviate symptoms. Disease control and functional outcomes are excellent after radiation therapy alone in appropriately selected patients.

NCMP-05. LEFT BASAL GANGLIA/INTERNAL CAPSULE GLIOBLASTOMA WITH MEMORY LOSS FROM CONTRALATERAL RADIATION INDUCED VASCULOPATHIES

Abstract INTRODUCTION Radiation induced cerebral vasculopathy encompasses a complex and broad range of effects such as ischemia, hemorrhage, vascular malformation, capillary telangiectasias, and large vessel stenosis caused by pathological reorganization of tissue after radiation exposure. Necrosis and inflammation induce damage and demyelinating changes to other vessels over the corresponding areas that may occur months to years after brain irradiation. Here we report an unusual case of hemorrhagic basal ganglia/internal capsule glioblastoma followed by contralateral basal ganglia/internal capsule acute infarct with resulting acute transient global amnesia followed by chronic memory impairment. CASE REPORT A 58-year old man was diagnosed with a hemorrhagic left basal ganglia/internal capsule mass after presenting with severe headaches, agitation, and vomiting. Glioblastoma (IDH wild type by sequencing, MGMT unmethylated) was identified on resection. He underwent radiotherapy and concurrent and adjuvant (12 cycles) temozolomide. Serial surveillance brain MRI scans demonstrated multiple incidental vascular abnormalities including subacute right basal ganglia/internal capsule ischemic infarct, right temporal cavernoma, and right temporal intra-parenchymal hemorrhage approximately 1, 2, and 3 years after diagnosis, respectively. Approximately 4 years after diagnosis, he presented with transient global amnesia and imaging demonstrated right basal ganglia/internal capsule ischemic stroke. DISCUSSION Bilateral basal ganglia/internal capsule damage from stroke has been reported as causing memory impairment (Tatemichi TK et al, Neurology 1992;42:1966-79; PMID 1407580). Here we report memory impairment from unilateral basal ganglia/internal capsule tumor and contralateral infarct following brain radiotherapy as another mechanism of neurocognitive injury. Our case highlights the significance of continuing to surveil for these findings as new neurologic symptoms may mimic tumor progression.