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.
- magnetic resonance angiography
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Contributors AM contributed with data gathering, manuscript writing and illustration drawing. GMC participated in the manuscript editing. MFG performed statistical analysis. GJA provided orientation in the illustrative cases and imaging acquisition. JK and MVRP worked on data gathering. PA provided illustrative cases and manuscript reviewing. RH contributed with illustrative cases, original idea, manuscript editing and reviewing.
Funding This work has been supported by cerebrovascular research grants from the Trinity Love Hoblit Foundation and Interline.
Competing interests RH is a consultant for Medtronic, Stryker, Codman, and Microvention.
Patient consent for publication Obtained.
Ethics approval Informed consent was obtained from the patients reported.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.