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

Abstract

<jats:sec><jats:title>OBJECTIVE</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSIONS</jats:title><jats:p>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.</jats:p></jats:sec>

Demographic, Clinical, and Radiographic Characteristics of Cerebral Aneurysms in Tuberous Sclerosis Complex

“…Most IA in patients with TSC were diagnosed incidentally (36.4%) or due to a new onset of a neurological deficit (21.2%). IA were ruptured in only 7.1% of the cases [11].…”

“…It has a birth incidence of 1 per 5800 and an incidence of 1 per 30,000 in the general population [6]. From all cases between 1900 and 2018 that were published in the English literature, only 33 patients with 42 IA were found [11]. But the incidence of IA in TSC might be higher as reported, as no screening trial has been performed yet.…”

“…The collected series [11] showed a specific demographic pattern. In particular, the male/female ratio was 1.9:1 and 66.7% of the patients were under the age of 18, among them 36.4% were 2 years of age or younger.…”

“…Of the 42 IA, 57.1% were large (size: 10-24 mm) or giant (size: ≥25 mm) and 45.2% had a fusiform configuration. Multiple aneurysms were seen only in 21.2% of the cases and a rapid growth was described and documented only in 2 patients (6%) [11,13].…”

“…Heritable connective tissue disorders such as Marfan syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz syndrome and autosomal dominant polycystic kidney disease (ADPKD) are commonly associated with small saccular aneurysms [10]. Our recent systematic review of the English literature [11] is the first to describe the characteristics of IA in TSC in comparison to the features of IA in healthy adults. Despite the eventuality of a congenital origin in TSC, there are some distinct features that characterize IA in TSC and differentiate them from common nonsyndromal IA.…”