Abstract
PurposeMoyamoya syndrome (MMS) is a rare intracranial arterial vasculopathy which can occur in neurofibromatosis type 1 (NF1) disease, representing a cause of cerebrovascular reserve (CVR) impairment, possibly leading to ischemic stroke. Here, we evaluated noninvasive imaging techniques used to assess CVR in MMS patients, describing clinical and imaging findings in patients affected by MMS-NF1.MethodsFollowing strict inclusion and exclusion criteria, in this retrospective observational study, we evaluated imaging data of nine consecutive MMS-NF1 patients (M/F = 5/4, mean age: 12.6 ± 4.0). Subjects underwent a multimodal evaluation of cerebral vascular status, including intracranial arterial MR Angiography (MRA), MRI perfusion with dynamic susceptibility contrast (DSC) technique, and 99mTc-hexamethylpropyleneamine oxime (HMPAO) SPECT.ResultsIn 8 out 9 patients (88.8%, 6/8 symptomatic), time-to-peak maps were correlated with the involved cerebral hemisphere, while in 6 out 9 patients (66.6%, 5/6 symptomatic), mean transit time (MTT) maps showed correspondence with the affected cerebrovascular territories. Cerebral blood flow (CBF) calculated using DSC perfusion failed to detect the hypoperfused regions instead identified by SPECT-CBF in all patients, while MTT maps overlapped with SPECT-CBF data in all cases and time-to-peak maps in 60.0%.ConclusionsAlthough SPECT imaging still represents the gold standard for CBF assessment, our results suggest that data obtained using DSC perfusion technique, and in particular MTT maps, might be a very useful and noninvasive tool for evaluating hemodynamic status in MMS-NF1 patients.
Highlights
Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder caused by mutations in the neurofibromin tumor suppressor gene, mainly affecting eyes, skin, bones, and central nervous system (CNS) [1, 2]
In only 2/9 cases (22.2%), Cerebral blood volume (CBV) maps showed a significant signal reduction due to chronic hypoperfusion, mainly associated to atrophy and gliosis, while in 3/9 patients (33.3%), no significant asymmetry was found on the CBV maps
We report 9 NF1 patients with vascular involvement undergoing MRI, MR angiography (MRA), and dynamic susceptibility contrast (DSC)-PWI, describing findings and correlations between these different parameters and reporting two cases of NF1 patients with primitive involvement of the vertebro-basilar system, a finding not described yet in literature, to the best of our knowledge
Summary
Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder caused by mutations in the neurofibromin tumor suppressor gene, mainly affecting eyes, skin, bones, and central nervous system (CNS) [1, 2]. The most frequent expression of vascular involvement in NF1 patients is a progressive and significant arteriopathy similar to those observed in moyamoya (MM) disease (MMD), regarded as MM syndrome (MMS) [5] These conditions share a similar diagnostic workflow, clinical presentation, and outcome after surgical revascularization [6], with MMS being defined when MM occurs in Neurol Sci (2021) 42:655–663 association with a well-recognized condition (such as NF1), while subjects without known associated risk factors are classified as MMD patients [5]. Abnormal vascular network with flow voids in the basal ganglia and, especially, in the Sylvian fissures on T2weighted images strengthens the diagnosis of MMD and MMS [11]
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