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

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  • Department of Neurosurgery, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
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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.

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Contributor Notes

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.

  • 1

    Aeron G, Abruzzo TA, Jones BV: Clinical and imaging features of intracranial arterial aneurysms in the pediatric population. Radiographics 32:667681, 2012

  • 2

    Aissi M, Younes-Mhenni S, Jerbi-Ommezzine S, Boughammoura-Bouatay A, Frih-Ayed M, Sfar MH: [Tuberous sclerosis and intracranial aneurysms: a rare association.] Rev Neurol (Paris) 166:935939, 2010 (French)

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3

    Beall S, Delaney P: Tuberous sclerosis with intracranial aneurysm. Arch Neurol 40:826827, 1983

  • 4

    Beez T, Steiger HJ, Hänggi D: Evolution of management of intracranial aneurysms in children: a systematic review of the modern literature. J Child Neurol 31:773783, 2016

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 5

    Beltramello A, Puppini G, Bricolo A, Andreis IAB, el-Dalati G, Longa L, : Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature. Pediatr Radiol 29:206211, 1999

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6

    Blumenkopf B, Huggins MJ: Tuberous sclerosis and multiple intracranial aneurysms: case report. Neurosurgery 17:797800, 1985

  • 7

    Boronat S, Shaaya EA, Auladell M, Thiele EA, Caruso P: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol 29:912919, 2014

  • 8

    Brill CB, Peyster RG, Hoover ED, Keller MS: Giant intracranial aneurysm in a child with tuberous sclerosis: CT demonstration. J Comput Assist Tomogr 9:377380, 1985

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 9

    Can A, Xu J, Volovici V, Dammers R, Dirven CM, MacRae CA, : Fusiform aneurysms are associated with aortic root dilatation in patients with subarachnoid hemorrhage. World Neurosurg 84:16811685, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 10

    Chen YL, Luo CB, Hsu SW, Rodesch G, Lasjaunias P: Tuberous sclerosis complex with an unruptured intracranial aneurysm: manifestations of contiguous gene syndrome. Interv Neuroradiol 7:337341, 2001

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 11

    Copley DJ: Case of the season. Semin Roentgenol 20:107109, 1985

  • 12

    Davidson S: Tuberous sclerosis with fusiform aneurysms of both internal carotid arteries manifested by unilateral visual loss and papilledema. Bull Los Angeles Neurol Soc 39:128132, 1974

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 13

    dos Santos MLT, Spotti AR, dos Santos RMT, Borges MA, Ferrari AF, Colli BO, : Giant intracranial aneurysms: morphology and clinical presentation. Neurosurg Rev 36:117122, 2013

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 14

    Gomez MR: Criteria for diagnosis, in Tuberous Sclerosis. New York: Raven Press, 1988

    • Export Citation
  • 15

    Guttman M, Tanen SM, Lambert CD: Visual loss secondary to a giant aneurysm in a patient with tuberous sclerosis. Can J Neurol Sci 11:472474, 1984

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 16

    Ho KL: Intraventricular aneurysm associated with tuberous sclerosis. Arch Neurol 37:385386, 1980

  • 17

    Huang J, McGirt MJ, Gailloud P, Tamargo RJ: Intracranial aneurysms in the pediatric population: case series and literature review. Surg Neurol 63:424433, 2005

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 18

    Hung PC, Wang HS, Chou ML, Wong AMC: Tuberous sclerosis complex with multiple intracranial aneurysms in an infant. Pediatr Neurol 39:365367, 2008

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 19

    Jabbarli R, Dinger TF, Darkwah Oppong M, Pierscianek D, Dammann P, Wrede KH, : Risk factors for and clinical consequences of multiple intracranial aneurysms: a systematic review and meta-analysis. Stroke 49:848855, 2018

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 20

    Jones BV, Tomsick TA, Franz DN: Guglielmi detachable coil embolization of a giant midbasilar aneurysm in a 19-month-old patient. AJNR Am J Neuroradiol 23:11451148, 2002

    • Search Google Scholar
    • Export Citation
  • 21

    Jurkiewicz E, Jóźwiak S: Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis. Pediatr Radiol 36:463, 2006

  • 22

    Juvela S, Porras M, Poussa K: Natural history of unruptured intracranial aneurysms: probability of and risk factors for aneurysm rupture. J Neurosurg 93:379387, 2000

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 23

    Koroknay-Pál P, Lehto H, Niemelä M, Kivisaari R, Hernesniemi J: Long-term outcome of 114 children with cerebral aneurysms. J Neurosurg Pediatr 9:636645, 2012

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 24

    Krueger DA, Northrup H, Roberds S, Smith K, Sampson J, Korf B, : Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255265, 2013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 25

    Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, : A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 12:19001907, 1997

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 26

    Martin N, de Broucker T, Cambier J, Marsault C, Nahum H: MRI evaluation of tuberous sclerosis. Neuroradiology 29:437443, 1987

  • 27

    Mizutani T, Miki Y, Kojima H, Suzuki H: Proposed classification of nonatherosclerotic cerebral fusiform and dissecting aneurysms. Neurosurgery 45:253260, 1999

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 28

    Moher D, Liberati A, Tetzlaff J, Altman DG: Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Int J Surg 8:336341, 2010

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29

    Morita A, Kirino T, Hashi K, Aoki N, Fukuhara S, Hashimoto N, : The natural course of unruptured cerebral aneurysms in a Japanese cohort. N Engl J Med 366:24742482, 2012

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 30

    Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B, : Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:243254, 2013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 31

    Nseir G, Golshayan D, Barbey F: Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome. Ren Fail 35:866868, 2013

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 32

    Osborne JP, Fryer A, Webb D: Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615:125127, 1991

  • 33

    Requejo F, Ceciliano A, Cardenas R, Villasante F, Jaimovich R, Zuccaro G: Cerebral aneurysms in children: are we talking about a single pathological entity? Childs Nerv Syst 26:13291335, 2010

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 34

    Sabat SB, Cure J, Sullivan J, Gujrathi R: Tuberous sclerosis with multiple intracranial aneurysms: atypical tuberous sclerosis diagnosed in adult due to third nerve palsy. Acta Neurol Belg 110:8992, 2010

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 35

    Shelton JB, Ramakrishnaiah R, Glasier CM, Phillips PH: Cavernous sinus syndrome from an internal carotid artery aneurysm in an infant with tuberous sclerosis. J AAPOS 15:389391, 2011

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 36

    Snowdon JA: Cerebral aneurysm, renal cysts and hamartomas in a case of tuberous sclerosis. Br J Urol 46:583, 1974

  • 37

    Spangler WJ, Cosgrove GR, Moumdjian RA, Montes JL: Cerebral arterial ectasia and tuberous sclerosis: case report. Neurosurgery 40:191194, 1997

  • 38

    Swarnkar A, Jungreis CA, Peel RL: Central odontogenic fibroma and intracranial aneurysm associated with tuberous sclerosis. Am J Otolaryngol 19:6669, 1998

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 39

    Wang B, Tu YF, Tsai YS: Teaching NeuroImages: Huge carotid artery aneurysm in TSC2/PKD1 contiguous gene syndrome. Neurology 89:e93e94, 2017

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 40

    Yi JL, Galgano MA, Tovar-Spinoza Z, Deshaies EM: Coil embolization of an intracranial aneurysm in an infant with tuberous sclerosis complex: a case report and literature review. Surg Neurol Int 3:129, 2012

    • Crossref
    • Search Google Scholar
    • Export Citation

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