108 results match your criteria Brain Imaging in Capillary Telangiectasia


Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations.

NMC Case Rep J 2022 31;9:139-144. Epub 2022 May 31.

Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.

Stenotic developmental venous anomalies (DVAs) often present with neurological deficits. In addition, cerebral capillary telangiectasia (CCT) coexisting with DVA is rarely encountered, and its pathophysiology, including the underlying genetics, and appropriate management remain uncertain. A 46-year-old man without any medical history of note was referred to our hospital with gradually worsening cerebellar ataxia. Read More

View Article and Full-Text PDF

Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia.

Pediatr Neurol 2022 04 30;129:24-30. Epub 2021 Dec 30.

Department of Diagnostic Imaging & Image-Guided Therapy, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a multiorgan vascular dysplasia with limited data regarding its neurovascular manifestations and genotype-phenotype correlation in children. The objective of this study was to describe the neurovascular findings in a large cohort of children with HHT and correlate between phenotype and genotype.

Methods: This retrospective study was conducted on 221 children (<18 years) with a definite or possible diagnosis of HHT based on Curacao criteria, or with positive genetics for the mutated genes of ENG, ACVRL-1, and SMAD-4, who also underwent brain MRI and/or conventional angiography. Read More

View Article and Full-Text PDF

Pearls & Oy-sters: Cerebral Abscess Secondary to Pulmonary Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia.

Neurology 2022 02 8;98(7):292-295. Epub 2021 Dec 8.

From the Department of Clinical Neurosciences (J.I.R., A.K.);Department of Pediatrics (K.W., A.K., M.J.E.), Cumming School of Medicine, University of Calgary; Alberta Children's Hospital Research Institute (A.K., M.J.E.), University of Calgary; Hotchkiss Brain Institute (A.K., M.J.E.), University of Calgary, Alberta, Canada.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition that is linked to a myriad of neurologic complications arising from vascular malformations of the brain, spinal cord, and lungs. Our case describes a previously healthy 3-year-old male who presented to hospital with fever of unknown origin and was found to have a brain abscess stemming from a pulmonary arteriovenous malformation (PAVM). This etiology was identified after a period of diagnostic delay; the medical team was suspicious for a proximal embolic source due to the presence of multiple tiny infarcts seen on MRI of the brain, but transthoracic echocardiogram and head and neck angiogram were unremarkable. Read More

View Article and Full-Text PDF
February 2022

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Genes (Basel) 2021 11 15;12(11). Epub 2021 Nov 15.

Department B, Institut Hédi Rais D'ophtalmologie de Tunis, Tunis 1007, Tunisia.

Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including optical coherence tomography angiography (OCT-A).

Case Presentation: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was 2/10 on the right eye and 3/10 on the left eye. Read More

View Article and Full-Text PDF
November 2021

Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment.

Int J Mol Sci 2021 Aug 21;22(16). Epub 2021 Aug 21.

Division Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, Stanford University, Stanford, CA 94305, USA.

Arteriovenous malformations are a vascular anomaly typically present at birth, characterized by an abnormal connection between an artery and a vein (bypassing the capillaries). These high flow lesions can vary in size and location. Therapeutic approaches are limited, and AVMs can cause significant morbidity and mortality. Read More

View Article and Full-Text PDF

Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations.

Clin Exp Dermatol 2022 Jan 30;47(1):129-135. Epub 2021 Aug 30.

Department of Dermatology, Hospital Universitario de Cabueñes, Gijón, Spain.

Mixed vascular naevus (MVN) is characterized by the co-occurrence of telangiectatic capillary malformation and naevus anaemicus, which can appear as a pure cutaneous phenotype or be combined with systemic manifestations such as brain malformations, neurological abnormalities and musculoskeletal disorders. Recently, GNA11 and GNAQ somatic mutations have been reported in some patients with isolated and syndromic MVN. We report three children with MVN syndrome with generalized cutaneous manifestations and a number of systemic associations not reported to date, including ophthalmological anomalies, musculoskeletal abnormalities such as Sprengel deformity and posterior vertebral fusion anomalies, and septal heart defects. Read More

View Article and Full-Text PDF
January 2022

CT-negative Subarachnoid Hemorrhage Caused by Telangiectasia: A Case Report.

Curr Med Imaging 2021 ;17(10):1262-1265

Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun City, Jilin Province, China.

Introduction: At present, the mechanism of telangiectasia is unknown, but some evidence suggests that it may be related to genetic abnormalities. Telangiectasia may lead to bleeding of multiple sites. CT-negative subarachnoid hemorrhage is rare, which is mostly related to hemorrhage with a little amount of bleeding. Read More

View Article and Full-Text PDF
December 2021

Susceptibility-weighted Imaging: Technical Essentials and Clinical Neurologic Applications.

Radiology 2021 04 23;299(1):3-26. Epub 2021 Feb 23.

From the CIRD Centre d'Imagerie Rive Droite, Geneva, Switzerland (S.H.); Faculty of Medicine of the University of Geneva, Geneva, Switzerland (S.H.); Department of Surgical Sciences, Division of Radiology, Uppsala University, Uppsala, Sweden (S.H.); CIMC Centre d'Imagerie Médicale de Cornavin, Geneva, Switzerland (S.H.) Departments of Neurology and Radiology, Wayne State University, Detroit, Mich (E.M.H.); Department of Biomedical Imaging and Image-guided Therapy, Medical University Vienna, Vienna, Austria (M.M.T.); Queen Square Institute of Neurology, University College London, London, England (F.B.); Centre for Medical Image Computing (CMIC), Institute of Healthcare Engineering, University College London, London, England (F.B.); and Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centre, Amsterdam, the Netherlands (F.B.).

Susceptibility-weighted imaging (SWI) evolved from simple two-dimensional T2*-weighted sequences to three-dimensional sequences with improved spatial resolution and enhanced susceptibility contrast. SWI is an MRI sequence sensitive to compounds that distort the local magnetic field (eg, calcium and iron), in which the phase information can differentiate. But the term is colloquially used to denote high-spatial-resolution susceptibility-enhanced sequences across different MRI vendors and sequences even when phase information is not used. Read More

View Article and Full-Text PDF

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clin Genet 2021 05 20;99(5):650-661. Epub 2021 Jan 20.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Read More

View Article and Full-Text PDF

Neonatal bilateral cerebral high flow fistulae leading to detection of a HHT-family carrier.

Interv Neuroradiol 2021 Aug 22;27(4):547-552. Epub 2020 Dec 22.

Department of Neurosurgery at the University of North Carolina School of Medicine, Chapel Hill, NC, USA.

Cerebral and spinal cord high-flow arteriovenous fistulae (HFAVF) are part of the spectrum of lesions found in Hereditary Hemorrhagic Telangiectasia (HHT). HFAVF consist of communications between large arteries and veins without interposed nidi or capillary transitions. The association between HHT and cerebral or spinal HFAVF in children has been reported and suggested as a potential marker for HHT. Read More

View Article and Full-Text PDF

Pulmonary arteriovenous malformation managed by VATS lobectomy.

Rozhl Chir 2020 ;99(10):467-471

Pulmonary arteriovenous malformation (PAVM) is formed by abnormal connections between pulmonary arteries and veins that bypass the pulmonary capillaries and transport deoxygenated blood through pulmonary veins to the left heart. This causes insufficient oxygenation of blood in the lungs. This condition remains symptomless for a long period of time. Read More

View Article and Full-Text PDF
November 2020

A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.

Am J Ophthalmol Case Rep 2020 Dec 27;20:100985. Epub 2020 Oct 27.

West Virginia University Eye Institute, 1 Medical Center Dr, Morgantown, WV, 26506, USA.

Purpose: To report a rare case of bilateral occlusive juxtafoveolar retinal telangiectasias associated with central nervous system lesions and renal impairment.

Observations: A 47-year-old woman presented to clinic with subjective vision loss in the right eye with best-corrected visual acuity (BCVA) 20/80. Fundoscopic examination, fluorescein angiography (FA), and optical coherence tomography with adjunct angiography (OCT/OCT-A) revealed macular microhemorrhages, enlarged foveal avascular zones (FAZ), and occlusive juxtafoveal telangiectasis with pruning of the macular capillaries in both eyes. Read More

View Article and Full-Text PDF
December 2020

Appearance of an unusual ring enhancing brain capillary telangiectasia on 3.0T MRI with dynamic susceptibility contrast perfusion.

Radiol Case Rep 2020 Aug 23;15(8):1331-1334. Epub 2020 Jun 23.

Department of Radiology and Imaging Sciences, Emory University School of Medicine, 1364 Clifton Road, Suite BG23, Atlanta, GA 30322, USA.

We present the appearance of brain capillary telangiectasia on 3.0T magnetic resonance imaging (MRI) perfusion. A 42-year-old female presented with intermittent left arm weakness and paresthesia. Read More

View Article and Full-Text PDF

Brain capillary telangiectasias: from normal variants to disease.

Acta Neurochir (Wien) 2020 05 6;162(5):1101-1113. Epub 2020 Mar 6.

Mayo Clinic Department of Radiology, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55905, USA.

Background: Brain capillary telangiectasias (BCTs) are small, dilated capillary networks in the brain that are most commonly asymptomatic. Though rare, symptomatic cases of BCTs have been reported, and it is therefore important to understand the nature of these lesions in order to facilitate proper recognition. Relative to other intracranial vascular malformations, updated information on the various epidemiologic, radiographic, and pathologic features of BCTs within the published literature may be inadequate. Read More

View Article and Full-Text PDF

Supracerebellar Approach to Radiation-Induced Giant Capillary Telangiectasia Within Juvenile Pilocytic Astrocytoma of Upper Brainstem.

World Neurosurg 2019 Dec 31;132:57. Epub 2019 Aug 31.

Skull Base and Cerebrovascular Laboratory, University of California, San Francisco, California, USA; Department of Neurological Surgery, University of California, San Francisco, California, USA. Electronic address:

Radiation-induced telangiectasia of the central nervous system has been described predominantly in children, with up to 20% of patients affected after 3-41 years of radiotherapy. We present the case of a 45-year-old male with a pontine pilocytic astrocytoma treated with standard-dose radiation for 6 weeks in 1993. He developed a 3-cm multicystic, hemorrhagic brainstem lesion but was asymptomatic. Read More

View Article and Full-Text PDF
December 2019

Paradoxical Brain Embolism Caused by Isolated Pulmonary Arteriovenous Fistula Successfully Treated with Recombinant Tissue Plasminogen Activator.

J Stroke Cerebrovasc Dis 2019 Jul 18;28(7):e100-e101. Epub 2019 Apr 18.

Department of Neurology, Osaka City University Graduate School of Medicine, Osaka City, Japan.

Pulmonary arteriovenous fistula (PAVF), a vessel malformation connecting the pulmonary circulation to the systemic circulation while bypassing the pulmonary capillaries, can cause paradoxical cerebral infarction. It is often associated with hereditary hemorrhagic telangiectasia (HHT), a genetic disease characterized by multiple dermal, mucosal, and visceral telangiectasia causing recurrent bleeding. Paradoxical cerebral embolism caused by PAVF without HHT is rare. Read More

View Article and Full-Text PDF

[Robot-Assisted Laparoscopic Prostatectomy for Patient with Hereditary Hemorrhagic Telangiectasia: A Case Report].

Hinyokika Kiyo 2018 Dec;64(12):505-508

The Department of Urology, Nara Prefecture General Medical Center.

A 69-year-old man who had a history of several nasal hemorrhages and transfusions presented with hereditary hemorrhagic telangiectasia. He was referred to the previous hospital due to the elevation of prostate specific antigen (PSA) to 17.2 ng/ml, and was diagnosed with prostate cancer (cT3aN0M0, Gleason 4 + 5). Read More

View Article and Full-Text PDF
December 2018

Hereditary Hemorrhagic Telangiectasia - Early Childhood Presentation with Hepatic Failure.

J Coll Physicians Surg Pak 2018 Sep;28(9):S195-S197

Department of Pediatrics, Shifa College of Medicine, Islamabad.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. Read More

View Article and Full-Text PDF
September 2018

Pulmonary arteriovenous malformations: diagnosis.

Cardiovasc Diagn Ther 2018 Jun;8(3):325-337

Department of Radiology, UT Southwestern Medical Center, Dallas, Texas, USA.

Pulmonary arteriovenous malformations (PAVMs) are rare, abnormal low resistance vascular structures that connect a pulmonary artery to a pulmonary vein, thereby bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. The spectrum of PAVMs extends from microscopic lesions causing profound hypoxemia and ground glass appearance on computed tomography (CT) but with normal catheter angiographic findings to classic pulmonary aneurysmal connections that abnormally connect pulmonary veins and arteries. These malformations most commonly are seen in hereditary hemorrhagic telangiectasia (HHT). Read More

View Article and Full-Text PDF

Metabolic Changes of Brain Developmental Venous Anomalies on F-FDG-PET.

Acad Radiol 2019 04 28;26(4):443-449. Epub 2018 Jun 28.

Department of Neuroradiology, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104. Electronic address:

Rationale And Objectives: To determine the metabolic effects of developmental venous anomalies (DVAs) and to correlate those effects with conventional magnetic resonance imaging (MRI) findings.

Materials And Methods: We conducted a retrospective review of MRI and brain 18F-fluorodeoxyglucose positron emission tomography (F-FDG-PET) examinations in subjects with DVAs. Conventional MRI was used to determine DVA number, location, size, and associated parenchymal findings such as atrophy, hemorrhage, cavernoma, capillary telangiectasia, cortical dysplasia/polymicrogyria, and white matter signal abnormality. Read More

View Article and Full-Text PDF

Eight-and-a-Half Syndrome: A Combination of Intracranial Capillary Telangiectasia and Hematencephalon.

J Stroke Cerebrovasc Dis 2018 Jul 12;27(7):e135-e137. Epub 2018 Apr 12.

Department of Nerve medical center, The First Hospital of Changsha, Changsha, China.

Eight-and-a-half syndrome, a combination of one-and-a-half syndrome and ipsilateral facial palsy, was first described by Eggenberger in 1998. Intracranial capillary telangiectasia (ICT) is a rare type of latent cerebral vascular malformation characterized by a number of small, dilated, and thin-walled blood capillaries with normal brain tissues between them. Susceptibility weighted imaging is the recommended diagnostic method to detect ICT. Read More

View Article and Full-Text PDF

Optical coherence tomography angiography: A comprehensive review of current methods and clinical applications.

Prog Retin Eye Res 2017 09 29;60:66-100. Epub 2017 Jul 29.

Department of Biomedical Engineering, University of Washington Seattle, Seattle, WA 98195, United States.

OCT has revolutionized the practice of ophthalmology over the past 10-20 years. Advances in OCT technology have allowed for the creation of novel OCT-based methods. OCT-Angiography (OCTA) is one such method that has rapidly gained clinical acceptance since it was approved by the FDA in late 2016. Read More

View Article and Full-Text PDF
September 2017

Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management.

Pediatr Neurosurg 2017 31;52(4):261-267. Epub 2017 May 31.

Division of Pediatric Epilepsy, Department of Pediatric Neurology, Rainbow Babies and Children's Hospital, and Department of Neurology and Neurosurgery, The Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.

We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Read More

View Article and Full-Text PDF

Cerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations.

Clin Infect Dis 2017 08;65(4):595-603

NHLI Cardiovascular Sciences, Imperial College London, London, UK.

Background: Cerebral abscess is a recognized complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored.

Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with computed tomography-confirmed PAVMs (including 403 [90. Read More

View Article and Full-Text PDF

Symptomatic capillary telangiectasia of the pons: three pediatric cases diagnosed by suspectibility-weighted imaging.

Childs Nerv Syst 2016 Nov 19;32(11):2261-2264. Epub 2016 May 19.

Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Besevler, 06510, Ankara, Turkey.

Introduction: Brain capillary telangiectasias (BCT) are small, clinically benign, usually asymptomatic and rarely seen lesions during childhood. Large symptomatic BCT during childhood are extremely rare, with only a few reports in the literature. They usually cannot be detected easily on conventional magnetic resonance imaging and angiography. Read More

View Article and Full-Text PDF
November 2016

Vascular Disorders of the Cerebellum in Children.

Neuroimaging Clin N Am 2016 Aug;26(3):435-58

Department of Radiology, Mount Sinai Medical Center, Box 1234, One Gustave Levy Place, New York, NY 10029, USA; Department of Neurosurgery, Mount Sinai Medical Center, One Gustave Levy Place, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai Medical Center, One Gustave Levy Place, New York, NY 10029, USA.

Key differences exist in the epidemiology, pathophysiology, and clinical presentation of vascular lesions of the cerebellum in children versus adults. An understanding of these differences and an appreciation of the distinct imaging features of these lesions aid in distinguishing normal vascular variations from pathology, in predicting lesion etiology, and in directing effective treatment strategies. This paper reviews the embryogenesis of the normal vascular system of the cerebellum and brainstem and then discusses the clinical and imaging features of the common vascular lesions affecting these structures in the pediatric population. Read More

View Article and Full-Text PDF

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing-like attacks in a pediatric patient found to have a pontine capillary telangiectasia and developmental venous anomaly: A case report exploring the root of the problem.

Cephalalgia 2017 Oct 24;37(11):1093-1097. Epub 2016 Jun 24.

1 Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada.

Introduction Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)-like attacks are rarely reported in the pediatric population and may remain undiagnosed and under-investigated as a result. Case presentation We present a case of a 15-year-old male with intermittent, episodic, right-sided brief headaches most in keeping with SUNCT, initially diagnosed as paroxysmal hemicrania, but with no response to indomethacin. The pain was likewise not responsive to typical migraine treatments or steroids. Read More

View Article and Full-Text PDF
October 2017

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

J Neurosurg Pediatr 2016 Jul 1;18(1):79-82. Epub 2016 Apr 1.

Departments of 1 Neurology.

The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. Read More

View Article and Full-Text PDF