Tuberous Sclerosis Complex With Multiple Intracranial Aneurysms in an Infant

To date, little is known on the prevalence, incidence, and characteristics of intracranial aneurysms (IA) in patients with tuberous sclerosis complex (TSC). Based on our recent systematic review and two cases treated in our institute, we summarize the current evidence concerning the distinct characteristics of these aneurysms. In contrast to saccular IA in healthy adults, IA in TSC present commonly with large or even giant sac size and fusiform configuration, location predilection on the internal carotid artery remote from the branching zones, remarkable higher prevalence of pediatric cases, inverted sex-ratio, and suspected rapid growth. Although the pathogenesis of IA in TSC is still unclear, all these features might point to the crucial role a congenital defect in the development of IA rather than extrinsic or environmental factors. Furthermore, we discuss the enhancement of the regular magnetic resonance (MR) imaging screening suggested by the last recommendations of the 2012 International TSC Consensus Conference with cranial time-of-flight MR angiography in order to enable timely identification and treatment of frequently complex IA in TSC.

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Does the tuberous sclerosis complex include intracranial aneurysms?

Pediatric Radiology ◽

10.1007/s002470050573 ◽

1999 ◽

Vol 29 (3) ◽

pp. 206-211 ◽

Cited By ~ 39

Author(s):

A. Beltramello ◽

Giovanni Puppini ◽

Andrea Bricolo ◽

Ivo Andrea Bergamo Andreis ◽

Ghassan El-Dalati ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Intracranial Aneurysms

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Tuberous Sclerosis and Multiple Intracranial Aneurysms: Case Report

Neurosurgery ◽

10.1227/00006123-198511000-00012 ◽

1985 ◽

Vol 17 (5) ◽

pp. 797-800 ◽

Cited By ~ 25

Author(s):

Bennett Blumenkopf ◽

Michael J. Huggins

Keyword(s):

Case Report ◽

Prospective Study ◽

Tuberous Sclerosis ◽

Intracranial Aneurysms ◽

Developmental Defects ◽

Multiple Intracranial Aneurysms ◽

A Prospective Study ◽

Arterial Aneurysms ◽

Arterial Dysplasia

Abstract A 6-year-old girl with tuberous sclerosis was found to have multiple intracranial fusiform arterial aneurysms. This represents the fifth reported case of this association. The concepts of an arterial dysplasia being present in cases of tuberous sclerosis and of developmental defects being the cause of some intracranial aneurysms are discussed. The need for a prospective study to assess the prevalence of intracranial aneurysms in patients with tuberous sclerosis is suggested.

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Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome

Interventional Neuroradiology ◽

10.1177/159101990100700410 ◽

2001 ◽

Vol 7 (4) ◽

pp. 337-341 ◽

Cited By ~ 11

Author(s):

Y.L. Chen ◽

C.B. Luo ◽

S.W. Hsu ◽

G. Rodesch ◽

P. Lasjaunias

Keyword(s):

Kidney Disease ◽

General Population ◽

Tuberous Sclerosis ◽

Polycystic Kidney Disease ◽

Tuberous Sclerosis Complex ◽

Intracranial Aneurysms ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Adult Polycystic Kidney Disease ◽

Contiguous Gene

With the advancement of molecular genetics, the deletion of the TSC2/PKD1 gene at chromosome 16p13.3 has been discovered to be responsible for the tuberous sclerosis complex sharing some of the clinical manifestations of autosomal dominant adult polycystic kidney disease such as multiple renal cysts and intracranial aneurysms. The unruptured aneurysm in tuberous sclerosis complex is far beyond the meaning it has in general population. The risk of aneurysmal hemorrhage in tuberous sclerosis complex may be higher than that in autosomal dominant adult polycystic kidney disease due to the synergistic effect of gene deletion and certainly much higher than that in the general population. For such high-risk patients with intracranial aneurysms doomed to subarachnoid hemorrhage, magnetic resonance angiography plays an important role in screening and follow-up, especially more critically for patients with contiguous gene syndrome. Endovascular coil embolization should be the first choice of treatment for unruptured intracranial aneurysms.

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Tuberous sclerosis and multiple intracranial aneurysms

Neurosurgery ◽

10.1097/00006123-198511000-00012 ◽

1985 ◽

Vol 17 (5) ◽

pp. 797???800 ◽

Cited By ~ 2

Author(s):

B Blumenkopf ◽

M J Huggins

Keyword(s):

Tuberous Sclerosis ◽

Intracranial Aneurysms ◽

Multiple Intracranial Aneurysms

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

Journal of Neurosurgery Pediatrics ◽

10.3171/2019.2.peds18661 ◽

2019 ◽

Vol 24 (2) ◽

pp. 174-183

Author(s):

Mehdi Chihi ◽

Oliver Gembruch ◽

Marvin Darkwah Oppong ◽

Bixia Chen ◽

Thiemo Florin Dinger ◽

...

Keyword(s):

Systematic Review ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Intracranial Aneurysms ◽

Developmental Disorders ◽

Internal Carotid ◽

Large Population ◽

Population Based ◽

Healthy Population ◽

Male Patients

OBJECTIVETuberous 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.METHODSThe 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.RESULTSThirty-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.CONCLUSIONSTSC 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.

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