Arteriovenous malformations of the brain: A teratologic challenge

Warkany, Josef; Lemire, Ronald J.

doi:10.1002/tera.1420290304

Cited by 13 publications

(11 citation statements)

References 162 publications

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“…In neurosurgical materials the incidence of cerebral vascular malformations varies from 0,5 to 9,0% [145,180,189,191,255]. In a personal study 5% of all intracranial space-occupying lesions were confirmed either by biopsy or autopsy [120].…”

Section: Incidencementioning

confidence: 98%

“…In autopsy series, their overall incidence ranges from 0,2 to 0,6% (see Table II), and they represent around or more than 50% of all cerebral vascular malformations (Table IV). Their incidence ranges from 1,5 to 9% (average 4%) of intracranial [120,139,144,187,212,255,265] and 3,3 to 11% of the spinal space occupying lesions [81,121,190,192] with a suggested ratio of brain to spinal cord AVMs of 8:1 [54,55] to 4:1 [151]. The gross appearance of AVMs is highly variable, and their size ranges from small, angiographically invisible lesions, sometimes called cryptic malformations [159,166,212] to large, comprehensive lesions whose arterial and venous channels involve large areas of the brain and/or spinal cord.…”

Section: Arteriovenous Malformations (Avm)mentioning

confidence: 99%

“…The development of the cerebral arteries which parallels that of aortic arch system has been extensively reviewed by Padget [184,185], Lemire et al [147], Kaplan [126]; and a review of the fetal cerebral arteries in relation to brain development has been published by Kier [130] and Warkany and Lemire [255]. This overview of the embryology of the vascular system of the brain suggests that the abnormal development that results in vascular and particularly AV malformations must occur very early in gestation probably at about 3 weeks of gestation when the embryo has a crown-rump lenght of 2,5 to 3 mm.…”

Section: Embryologymentioning

confidence: 99%

“…[11,120,121], their congenital origin is strongly supported by their frequent coexistence with other congenital anomalies and dysplasias [255]. Positive family histories of AVMs are obtained in 3,7% and associated congenital malformations occur in 2,5% [98].…”

Section: Pathogenesismentioning

confidence: 99%

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Vascular malformations of the central nervous system: A morphological overview

Jellinger

1986

Neurosurg. Rev.

243

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Vascular malformations of the central nervous system (C.N.S.) are classified by size, location, and morphologic type, distinguishing capillary telangiectasias, cavernous malformations, venous angiomas, arteriovenous malformations (AVMs) including varix of the great vein of Galen, and other vascular malformations (e.g. Sturge-Weber syndrome). The morphology and predominant location pattern of the different types of vascular malformations in the brain and spinal cord, and their embryology are reviewed. In the brain and its coverings, all types mainly AVMs and venous angiomas do occur, representing 5-9% of all intracranial space-occupying lesions and 20-40% of the sources of surgically treated intracranial hemorrhages. 50-80% of the angiomas are located in the cerebral hemispheres, 10-18% in central brain areas (basal ganglia, internal capsule, choroid plexus), and 10-30% in the posterior fossa. The major types of cerebral vascular malformations are described with reference to their anatomical features, location, chief arterial and venous supply, and prominent complications. Spinal vascular malformations, accounting for 3 to 12% of spinal space-occupying lesions, include vertebral, extradural, dural, subpial and intramedullary angiomas which occur as isolated or complex vascular anomalies and may involve various covering layers at the same level. The preferential occurrence of angiomas on the dorsal surface of the cord and in the caudal regions is related to the embryologic development of spinal vasculature. Frequent association of spinal angiomas (20-25%) with other vascular anomalies and dysplasias emphasizes their hamartomatous nature and developmental origin. Spinal angiomas include capillary telangiectasias with extra- or intradural and, rarely, intramedullary location, cavernomas, mainly arising in vertebral bodies, venous angiomas, mainly located in vertebral bodies and in the extradural space, and AVMs constituting the commonest type, that may affect both the pial and radicular vessels and can penetrate into the cord. They present as simple AV fistulas, cirsoid angiomas with localized vascular plexuses and large complex convolutions ("juvenile" type). The complications of spinal angiomas include subarachnoid hemorrhage, rare epidural hematoma, hematomyelia, compression lesions of the cord and roots, and ischemic changes causing chronic progressive radiculomyelopathy, previously referred to as Foix-Alajouanine syndrome. Chronic damage to the cord and spinal roots results from pressure effects, thrombosis of the abnormal vessels, disorders of venous drainage, and "steal" phenomena related to the vascular anomalies.

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Section: Incidencementioning

confidence: 98%

Section: Arteriovenous Malformations (Avm)mentioning

confidence: 99%

Section: Embryologymentioning

confidence: 99%

Section: Pathogenesismentioning

confidence: 99%

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Vascular malformations of the central nervous system: A morphological overview

Jellinger

1986

Neurosurg. Rev.

243

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“…Warkany and Lemire recognized that AVMs "are generally considered congenital, although patients usually are adults 20 to 60 years of age and few have signs or symptoms that go back to early life". They acknowledge that AVMs "are puzzling to teratologists because they occur sporadically and are unassociated with congenital malformations outside the central nervous system", and point out "the unsatisfactory state of our understanding of these malformations … and recommend them to teratologists for further study" [12]. In his 1996 paper on the embryological basis of AVMs, Mullan noted that the "theories of origin are not susceptible to experimental proof and should be accepted or rejected on the basis of the available evidence" [8].…”

Section: Theories Of Pathogenesismentioning

confidence: 99%

Central Nervous System Vascular Malformations

Davidson¹,

Stoodley²

2012

Congenital Anomalies - Case Studies and Mechanisms

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Genetic disorders that masquerade as multiple sclerosis

Natowicz

Bejjani

1994

Am. J. Med. Genet.

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There are many genetic disorders that have signs and symptoms suggestive of multiple sclerosis and that may easily be overlooked in the evaluation of both adult and pediatric multiple sclerosis patients. The recognition of a genetic disorder as the cause of a patient's "multiple sclerosis" phenotype has important implications not only for the patient, but often also for others in the patient's family who may be at risk for the same disease. We present here a review of single gene disorders that can masquerade as multiple sclerosis. For each disorder, the major clinical and biochemical characteristics are discussed, together with the appropriate testing to screen for and confirm the diagnosis. In addition, guidelines are presented for when to suspect an underlying genetic condition in a patient with a diagnosis of definite or probable multiple sclerosis. The great variety of genetic disorders that can masquerade as multiple sclerosis and the many implications of a genetic diagnosis underscore the importance of recognizing genocopies of multiple sclerosis.

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Arteriovenous malformations of the brain: A teratologic challenge

Cited by 13 publications

References 162 publications

Vascular malformations of the central nervous system: A morphological overview

Vascular malformations of the central nervous system: A morphological overview

Central Nervous System Vascular Malformations

Genetic disorders that masquerade as multiple sclerosis

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