RT Journal Article
SR Electronic
T1 Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review
JF Journal of NeuroInterventional Surgery
JO J NeuroIntervent Surg
FD BMJ Publishing Group Ltd.
SP 171
OP 176
DO 10.1136/neurintsurg-2020-016069
VO 13
IS 2
A1 Andre Monteiro
A1 Gustavo M Cortez
A1 Manuel F Granja
A1 Guilherme J Agnoletto
A1 Julia Kranich
A1 Marcus Vinicius R Padilha
A1 Philipp Aldana
A1 Ricardo Hanel
YR 2021
UL http://jnis.bmj.com/content/13/2/171.abstract
AB Background Microcephalic primordial dwarfism (MPD) is a heterogeneous group of rare disorders. Recent studies have reported a significant percentage of patients with MPD suffering from a spectrum of cerebrovascular abnormalities, including intracranial aneurysms (IAs) and moyamoya syndrome. The neurological literature has not as yet specifically assessed IAs in this population. This systematic review aimed to assess the clinical behavior, characteristics, treatment modalities and outcomes of IAs in patients with MPD.Methods We performed a systematic search in PubMed, Ovid MEDLINE and Ovid EMBASE for cases of MPD with IAs. We included three illustrative cases from our institution.Results Twenty-four patients with 71 aneurysms were included in this study. Twelve patients (50%) presented with subarachnoid hemorrhage. The majority of patients were aged ≤18 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3 (IQR 1.8–6) mm, and the most frequent locations were the internal carotid (37.3%) and middle cerebral arteries (23.8%). Concomitant moyamoya disease was reported in nine (37.5%) patients. Median age of aneurysm detection in screened patients was significantly lower than in non-screened patients (P=0.02). Microsurgical clipping (55.3%) and endovascular coiling (26.3%) were the most used modalities. Twenty-two cases were managed conservatively. Overall, mortality occurred in 45.8% of cases.Conclusions Screening for cerebrovascular disease seems reasonable and effective to detect aneurysms at an earlier age in this population. Efforts in the literature to emphasize early and regular screening for these patients can positively impact outcomes in this population, however more evidence is needed.