Brain Arteriovenous Malformations in Patients With Hereditary Hemorrhagic Telangiectasia: Clinical Presentation and Anatomical Distribution

Saleh, Maha; Carter, Melissa T.; Latino, Giuseppe A.; Dirks, Peter B.; Ratjen, Félix

doi:10.1016/j.pediatrneurol.2013.07.021

Cited by 25 publications

(12 citation statements)

References 43 publications

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“…It is characterized clinically by mucocutaneous telangiectasias, with the presence of single or multiple AVMs in 9%-25% of patients. 35,42 The phakomatosis cerebrofacial arteriovenous metameric syndrome (CAMS) consists of brain and orbit AVMs with retinal or retrobulbar lesions. Some patients with complete expression manifest high-flow maxillofacial or mandibular AVMs, manifesting life-threatening epistaxis or gingival hemorrhage.…”

Section: Molecular and Cellular Biology Associated With Syndromic Avmsmentioning

confidence: 99%

Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment

Rangel-Castilla¹,

Russin²,

Martinez-del-Campo³

et al. 2014

FOC

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Object Arteriovenous malformations (AVMs) are classically described as congenital static lesions. However, in addition to rupturing, AVMs can undergo growth, remodeling, and regression. These phenomena are directly related to cellular, molecular, and physiological processes. Understanding these relationships is essential to direct future diagnostic and therapeutic strategies. The authors performed a search of the contemporary literature to review current information regarding the molecular and cellular biology of AVMs and how this biology will impact their potential future management. Methods A PubMed search was performed using the key words “genetic,” “molecular,” “brain,” “cerebral,” “arteriovenous,” “malformation,” “rupture,” “management,” “embolization,” and “radiosurgery.” Only English-language papers were considered. The reference lists of all papers selected for full-text assessment were reviewed. Results Current concepts in genetic polymorphisms, growth factors, angiopoietins, apoptosis, endothelial cells, pathophysiology, clinical syndromes, medical treatment (including tetracycline and microRNA-18a), radiation therapy, endovascular embolization, and surgical treatment as they apply to AVMs are discussed. Conclusions Understanding the complex cellular biology, physiology, hemodynamics, and flow-related phenomena of AVMs is critical for defining and predicting their behavior, developing novel drug treatments, and improving endovascular and surgical therapies.

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Section: Molecular and Cellular Biology Associated With Syndromic Avmsmentioning

confidence: 99%

Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment

Rangel-Castilla¹,

Russin²,

Martinez-del-Campo³

et al. 2014

FOC

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“…Эти мальфор мации, особенно при высоком артериальном давле нии, могут кровоточить и быть причиной внутриче репных кровоизлияний и/или судорог. Средний возраст больных с внутричерепными кровоизлия ниями при НГТ составляет 25 лет, реже оно может развиться в неонатальном периоде [35][36][37].…”

Section: клиника и диагностикаunclassified

Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment

Baydarova¹,

Тупикин²,

Andreytseva³

2016

Dok. gastroenterol.

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“…Infectious causes such as abscesses or fungal lesions of the brain are possible in children. Cavernous malformations, 24 arteriovenous malformations, 25 and congenital malformations 26 may lead to seizure and/or neurologic changes and mimic tumor on imaging. Rare causes like Rosai-Dorfman 27 or Langerhans cell histiocytosis (LCH) 28 should be considered, especially with diabetes insipidus and pituitary stalk changes, which are often seen with LCH.…”

Section: Differential Diagnosismentioning

confidence: 99%

Childhood Cancer for the Primary Care Physician

Radhi

Fulbright

Ginn

et al. 2015

Primary Care: Clinics in Office Practice

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Brain Arteriovenous Malformations in Patients With Hereditary Hemorrhagic Telangiectasia: Clinical Presentation and Anatomical Distribution

Cited by 25 publications

References 43 publications

Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment

Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment

Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment

Childhood Cancer for the Primary Care Physician

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