Hereditary Haemorrhagic Telangiectasia Cerebrospinal Localization in Adults and Children

Mahadevan, Jeyaledchumy; Ozanne, Augustin; Yoshida, Yuichi; Weon, Yc; Álvarez, H.; Rodesch, Georges; Lasjaunias, P.

doi:10.1177/159101990401000102

Cited by 24 publications

(19 citation statements)

References 19 publications

(19 reference statements)

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“…As pointed out by Fulbright et al, MRI might underestimate HHT-related vascular malformations; however, the large (and potentially dangerous) lesions such as arteriovenous malformations and AV fistulae are readily detectable on routine sequences [6]. The micro-AVMs on the other hand might remain unnoticed on MRI; however, the latter do not tend to bleed in the HHT population [25,26]. Therefore, MRI might constitute an apt method for screening patients with HHT for neurovascular manifestations.…”

Section: Imaging Appearances and Angioarchitecture Of Neurovascular Mmentioning

confidence: 99%

“…The twelve micro-AVMs were equally distributed in patients under and over 15 years of age (six each), whereas of the eight small AVMs seven occurred in adults [25]. Mahadevan et al evaluated 39 patients with HHT but did not specifically look at the age distribution of the different phenotypical appearances [26]. Fulbright et al have reported on the thus far largest group of patients with HHT, however, they mainly focused on MRI and performed angiography only in a small number of cases.…”

Section: Age Dependencymentioning

confidence: 99%

“…Although there is general agreement that micro-AVMs in HHT should not be treated since they do not tend to bleed [25,26], the question on the risk/benefit ratio of treating the other types of vascular HHT manifestations requires further attention. Management approaches across different countries differ markedly.…”

Section: Therapeutic Strategiesmentioning

confidence: 99%

“…In a single patient flow reduction with fibered coils was used prior to glue embolization. In our experience, even partial targeted embolization was found to be beneficial for the patient [26,29]. In a total of 19 children in whom the malformation was not completely embolized, we have 909 months of follow-up [40].…”

Section: Endovascular Approachesmentioning

confidence: 99%

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Hereditary Hemorrhagic Telangiectasia

et al. 2006

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Hereditary hemorrhagic telangiectasia (HHT) is inherited as an autosomal dominant trait with varying penetrance and expressivity. Some of the most devastating consequences of this disease result from cerebral vascular malformations that manifest themselves in either arteriovenous fistulae (AVF), small nidus-type arteriovenous malformations (AVM) or microAVMs with a nidus less than 1 cm in size. HHT displays an age-related penetrance of clinical manifestations: fistulae become symptomatic in early childhood, whereas AVMs are typically encountered in older children and young adults. MicroAVMs in the HHT population did not bleed and were asymptomatic incidental findings in affected patients. Since members of the same family can present with completely different phenotypes of this disease, there seem to be no relationship between the type of mutation and the phenotype of the disease. There seem to be a continuum of vascular abnormalities (from large fistulous areas to small AVMs and micro-AVMs) associated with HHT, most likely being determined by the timing of the revealing event in relation to the maturity of the vessel. Presumably, the trigger of the quiescent genetical abnormality transforms a "dormant" disease into a morphologically and therefore clinically detectable one by impairing a specific vessel segment at a specific (more or less vulnerable) period of time. The nature of this triggering event is, however, yet unclear. Embolization employing superselective glue injection results in a high occlusion rate, esp. in AV fistulae. Since the natural history of neurovascular manifestations of HHT especially in children is associated with high morbidity and mortality, therapeutic intervention is mandatory. In most instances a morphological target can be identified; therefore, even partial and staged treatment can be performed. The endovascular approach employing glue as the embolizing agent represents a safe and efficient way to control the neurovascular phenotypes of HHT. ZusammenfassungDie hereditäre hämorrhagische Teleangiektasie (HHT) ist eine autosomal dominant vererbte Erkrankung mit variabler Penetranz. Einige der klinisch bedeutsamsten Konsequenzen dieser Erkrankung erwachsen aus den neurovaskulären Manifestationen, bei denen man verschiedene Phänotypen nachweisen kann. Das Ziel dieser Arbeit ist es, die unterschiedlichen neurovaskulären Manifestationen der HHT zu typisieren und die therapeutischen Behandlungsoptionen darzulegen. Neurovaskuläre Manifestationen der HHT sind die spinalen arteriovenösen Fisteln (AVF), die zerebralen AVF, die "klassischen" nidusförmigen glomerulären arteriovenösen Malformationen (AVMs) und die Mikro-AVMs (Nidus unter 1cm Größe, ohne verfrühte venöse Drainage). Während die Fisteln (sowohl spinal als auch zerebral) vor allem in der pädiatrischen Population symptomatisch wurden, wurden die glomerulären AVMs und Mikro-AVMs erst im späten Jugendalter und frühen Erwachsenenalter diagnostiziert. Die Phänotypologie der HHT ist variabel und scheint nicht mit der spezifischen Mutation

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Section: Imaging Appearances and Angioarchitecture Of Neurovascular Mmentioning

confidence: 99%

Section: Age Dependencymentioning

confidence: 99%

Section: Therapeutic Strategiesmentioning

confidence: 99%

Section: Endovascular Approachesmentioning

confidence: 99%

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Hereditary Hemorrhagic Telangiectasia

et al. 2006

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“…Pulmonary AVMs are the most common visceral AVM in HHT patients, affecting as many as 37%-59% of adult HHT patients [1]. Spinal AVM/AVFs, a rare presentation of HHT, are seen in 4.5%-8% of patients according to the largest series [5][6].…”

Section: Introductionmentioning

confidence: 99%

Use of Fluorescent Indocyanine Green Angiography During Microsurgical Resection of a Recurrent Giant Perimedullary Cervical Spinal Arteriovenous Fistula in a Patient with Hereditary Hemorrhagic Telangiectasia: A Case Report

Choudhri¹,

Heit²,

Gupta³

et al. 2014

Cureus

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We report the utility of fluorescent indocyanine green (ICG) during the microsurgical resection of a giant perimedullary cervical arteriovenous fistula (GPMAVF) in a young man with hereditary hemorrhagic telangiectasia. ICG angiography is a useful adjunct for understanding angioarchitecture and drainage patterns in spinal arteriovenous malformation (AVM) surgery. Cervical GPMAVF is a rare spinal lesion found in association with hereditary hemorrhagic telangiectasia. This vascular malformation is associated with venous varices in a perimedullary location causing cord compression and vascular steal. This rare case highlights the crucial role of ICG during complex spinal AVM/AVF surgery to obtain angiographic cure.

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