Dataset Information

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

ABSTRACT:

Purpose

Moyamoya 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.

Methods

Following 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.

Results

In 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%.

Conclusions

Although 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.

SUBMITTER: D'Amico A

PROVIDER: S-EPMC7843564 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Publications

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

D'Amico Alessandra A Ugga Lorenzo L Cocozza Sirio S Giorgio Sara Maria Delle Acque SMDA Cicala Domenico D Santoro Claudia C Melis Daniela D Cinalli Giuseppe G Brunetti Arturo A Pappatà Sabina S

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 20200710 2

<h4>Purpose</h4>Moyamoya 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.<h4>Methods</h4>Following strict inclusion and exclusion criteria, in this retrospective obser ...[more]

PMID: 32651859

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Project description:BACKGROUND AND PURPOSE:There is a critical need for a reliable and clinically feasible imaging technique that can enable prognostication and selection for revascularization surgery in children with Moyamoya disease. Blood oxygen level-dependent MR imaging assessment of cerebrovascular reactivity, using voluntary breath-hold hypercapnic challenge, is one such simple technique. However, its repeatability and reliability in children with Moyamoya disease are unknown. The current study sought to address this limitation. MATERIALS AND METHODS:Children with Moyamoya disease underwent dual breath-hold hypercapnic challenge blood oxygen level-dependent MR imaging of cerebrovascular reactivity in the same MR imaging session. Within-day, within-subject repeatability of cerebrovascular reactivity estimates, derived from the blood oxygen level-dependent signal, was computed. Estimates were associated with demographics and intellectual function. Interrater reliability of a qualitative and clinically applicable scoring scheme was assessed. RESULTS:Twenty children (11 males; 12.1 ± 3.3 years) with 30 MR imaging sessions (60 MR imaging scans) were included. Repeatability was "good" on the basis of the intraclass correlation coefficient (0.70 ± 0.19). Agreement of qualitative scores was "substantial" (κ = 0.711), and intrarater reliability of scores was "almost perfect" (κ = 0.83 and 1). Younger participants exhibited lower repeatability (P = .027). Repeatability was not associated with cognitive function (P > .05). However, abnormal cerebrovascular reactivity was associated with slower processing speed (P = .015). CONCLUSIONS:Breath-hold hypercapnic challenge blood oxygen level-dependent MR imaging is a repeatable technique for the assessment of cerebrovascular reactivity in children with Moyamoya disease and is reliably interpretable for use in clinical practice. Standardization of such protocols will allow further research into its application for the assessment of ischemic risk in childhood cerebrovascular disease.

Project description:BACKGROUND:Surgical revascularization is often performed in patients with moyamoya, however routine tools for efficacy evaluation are underdeveloped. The gold standard is digital subtraction angiography (DSA); however, DSA requires ionizing radiation and procedural risk, and therefore is suboptimal for routine surveillance of parenchymal health. OBJECTIVE:To determine whether parenchymal vascular compliance measures, obtained noninvasively using magnetic resonance imaging (MRI), provide surrogates to revascularization success by comparing measures with DSA before and after surgical revascularization. METHODS:Twenty surgical hemispheres with DSA and MRI performed before and after revascularization were evaluated. Cerebrovascular reactivity (CVR)-weighted images were acquired using hypercapnic 3-Tesla gradient echo blood oxygenation level-dependent MRI. Standard and novel analysis algorithms were applied (i) to quantify relative CVR (rCVRRAW), and decompose this response into (ii) relative maximum CVR (rCVRMAX) and (iii) a surrogate measure of the time for parenchyma to respond maximally to the stimulus, CVRDELAY. Measures between time points in patients with good and poor surgical outcomes based on DSA-visualized neoangiogenesis were contrasted (signed-rank test; significance: 2-sided P < .050). RESULTS:rCVRRAW increases (P = .010) and CVRDELAY decreases (P = .001) were observed pre- vs post-revascularization in hemispheres with DSA-confirmed collateral formation; no difference was found pre- vs post-revascularization in hemispheres with poor revascularization. No significant change in rCVRMAX post-revascularization was observed in either group, or between any of the MRI measures, in the nonsurgical hemisphere. CONCLUSION:Improvement in parenchymal compliance measures post-revascularization, primarily attributed to reductions in microvascular response time, is concurrent with collateral formation visualized on DSA, and may be useful for longitudinal monitoring of surgical outcomes.

Project description:Objective Neurofibromatosis type 2 (NF2) patients report that swallowing and speech problems significantly affect their quality of life, but the etiology of these phenomena is poorly understood. Swallowing and speech deficits may arise due to the neuropathy of involved nerves, due to posterior fossa tumor growth, or as iatrogenic effects from neurosurgical procedures to remove these tumors. This study aims to identify the natural history of swallowing and speech deficits in an NF2 cohort and to characterize the factors that may lead to those deficits. Methods Subjects ( n = 168) were enrolled in a prospective, longitudinal study of NF2 with yearly imaging and clinical exams. The patients completed a self-reported questionnaire that included responses regarding subjective swallowing and speech dysfunction. A formal speech-language pathology evaluation and modified barium swallow (MBS) study (reported as American Speech-Language Hearing Association [ASHA] swallowing independency score from 1 through 7) was obtained when a speech/swallowing deficit was reported on the questionnaire. Results Of the 168 enrolled subjects, 55 (33%, median age = 31 years) reported subjective speech and/or swallowing deficits. These patients underwent one ( n = 37) or multiple ( n = 18) MBS studies during 44.8 ± 10.4 months follow-up. During MBS, a majority demonstrated near-normal swallowing (ASHA score >6, 82%), and no evidence of aspiration (aspiration/laryngeal penetration score = 1, 96%). Prior to initial MBS consultation, 38 (69%) patients had undergone relevant neurosurgical procedures. In those with recent (<1 week) posterior fossa surgery ( n = 12), 2 (17%) patients had severe dysphagia and high aspiration risk on postoperative MBS. Both of these patients recovered to functionally independent swallowing status. Unilateral ( n = 10) or bilateral ( n = 6) tongue deficits unrelated to previous history suggestive of hypoglossal nerve injury were detected on clinical examination. There was a correlation between the presence of dysarthria and tongue deficits and tumors associated with the hypoglossal canal noted on imaging. Conclusion A large proportion of patients with NF2 report speech and swallow deficits that are not evident on objective measurements. We also found hypoglossal neuropathy unrelated to prior surgical interventions. Our findings suggest that swallowing and speech problems in NF2 are associated with lower cranial nerve neuropathy, some due to compressive effects of posterior fossa tumors. Adaptation over the course of the disease allows for the compensation of these deficits and subsequent normal findings on objective testing.

Dataset Information

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

Purpose

Methods

Results

Conclusions

Publications

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

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