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24.05.2018 | Review Paper

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience

verfasst von: Marcello Scala, Pietro Fiaschi, Valeria Capra, Maria Luisa Garrè, Domenico Tortora, Marcello Ravegnani, Marco Pavanello

Erschienen in: Child's Nervous System | Ausgabe 7/2018

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Abstract

Background

Moyamoya disease (MMD) is a cerebrovascular disorder characterized by the progressive occlusion of the supraclinoid internal carotid artery (ICA), resulting in the formation of an abnormal cerebral vascular network. When MMD occurs in association with an underlying medical condition, including some distinctive genetic disorders, it is named moyamoya syndrome (MMS). The discrimination between MMD and MMS has been validated by recent genetic researches and international reviews. Similarly to patients suffering from MMD, patients with MMS generally become symptomatic because of ischemic complications, which lead to hemiparesis, transient ischemic events, seizures, and sensory symptoms. RASopathies are a group of neurodevelopmental disorders that can be associated with MMS.

Results

We retrospectively reviewed 18 RASopathy patients with MMS treated at our institution from 2000 to 2015 (16 neurofibromatosis type 1, 1 Costello syndrome, and 1 Schimmelpenning syndrome). Here, we report clinical data, performed surgical procedures, and clinic-radiological outcome of these patients. Most of them received both indirect revascularization and medical therapy.

Conclusions

At the moment, there are no univocal recommendations on which of these two treatment strategies is the treatment of choice in patients with RASopathies and MMS. We suggest that patients with a good overall prognosis (primarily depending on the distinctive underlying genetic disorder) and initial cerebrovascular disease could benefit from a prophylactic surgical revascularization, in order to prevent the cognitive impairment due to the progression of the vasculopathy.

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Titel: When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience
verfasst von: Marcello Scala
Pietro Fiaschi
Valeria Capra
Maria Luisa Garrè
Domenico Tortora
Marcello Ravegnani
Marco Pavanello
Publikationsdatum: 24.05.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Child's Nervous System / Ausgabe 7/2018
Print ISSN: 0256-7040
Elektronische ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-3833-7

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When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience

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