Intracranial aneurysms in patients with tuberous sclerosis complex: a systematic review

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OBJECTIVE

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease. Arterial wall developmental disorders, such as aneurysms, in association with TSC have been well described for extracranial vasculature. The characteristics of intracranial aneurysms (IAs) in TSC have not previously been addressed in the literature. This systematic review was performed to identify and assess the distinct characteristics of IAs in patients with TSC.

METHODS

The authors searched PubMed, Scopus, and Web of Science for publications describing cases of TSC and IA reported before August 7, 2018. They also report 2 cases of IAs in TSC patients treated at their own institution.

RESULTS

Thirty-three TSC patients with a total of 42 IAs were included in this review. Three individuals presented with subarachnoid hemorrhage. The IAs were large or giant in 57.1% and fusiform in 45.2% of the cases. Most of the IAs (61.9%, 26 of 42) originated from the internal carotid artery. There was a higher prevalence of pediatric cases (66.7%) and male patients (63.6%, 21 of 32 individuals with known sex) among the collected series.

CONCLUSIONS

TSC patients with IAs are characterized with a higher proportion of large/giant and fusiform IAs and young age, suggesting rapid aneurysmal growth. Furthermore, there is a distinct location pattern of IAs and an inverse sex ratio than in the healthy population. Large population-based patient registers are required to improve the understanding of epidemiology and pathophysiology of IA formation in TSC.

ABBREVIATIONS ACA = anterior cerebral artery; ACoA = anterior communicating artery; ADPKD = autosomal dominant polycystic kidney disease; ASA = acetylsalicylic acid; DSA = digital subtraction angiography; IA = intracranial aneurysm; ICA = internal carotid artery; MCA = middle cerebral artery; MRA = magnetic resonance angiography; MRI = magnetic resonance imaging; PCA = posterior cerebral artery; PCoA = posterior communicating artery; PRISMA = Preferred Reporting Items for Systematic Reviews and Meta-Analyses; SAH = subarachnoid hemorrhage; STA = superficial temporal artery; TOF = time-of-flight; TSC = tuberous sclerosis complex; UIA = unruptured intracranial aneurysm.

Article Information

Correspondence Mehdi Chihi: University Hospital Essen, University of Duisburg-Essen, Essen, Germany. mehdi.chihi@uk-essen.de.

INCLUDE WHEN CITING Published online May 10, 2019; DOI: 10.3171/2019.2.PEDS18661.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

Headings

Figures

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    Case 1. A and B: TOF-MRA images obtained at initial presentation (A), showing an 8-mm-diameter left cavernous ICA aneurysm, and 5 months later, showing rapid growth (B, diameter 13.8 mm). C: DSA image obtained when the patient was 14 months old showing an aneurysm diameter of 18.8 mm. D: DSA image obtained immediately after treatment (coil embolization of the aneurysm and parent vessel occlusion). E and F: DSA images showing that the left hemisphere was still perfused by collateral blood flow from the right ICA through the ACoA (E) and from the left PCA through the left PCoA (F).

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    Case 2. A and B: DSA images showing an anterior (A) and a lateral (B) view of the incidental 9-mm-diameter saccular aneurysm of the right ICA. C and D: 3D reconstructions of both views. Clipping was successfully performed. E and F: Postoperative DSA images showing occlusion of the intradural portion of the aneurysm, with a small extradural aneurysm remnant.

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    PRISMA diagram detailing the specifics of the systematic literature review.

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