Moyamoya disease and Moyamoya syndrome: uncommon progressive cerebrovascular disorders–clinical report in 6 children and literature review

Abstract Background Moyamoya disease (MMD) refers to an isolated, usually bilateral vasculopathy of undetermined origin characterized by a chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Moyamoya syndrome (MMS) refers to the same Moyamoya angiographic findings when the anomaly is found in association to various inherited or acquired conditions. We report herewith the clinical and neuroradiological evaluation conducted on six children presenting with MMD and MMS together with a wide revision of the literature. Method The medical records of patients with age < 18 years, admitted to the Pediatric Clinic of Catania University and the Pediatric Unit of the Cannizzaro Hospital Catania, Italy between 2006 and 2023 were analyzed. The children here reported were selected according to the results of neuroradiological investigations related to the Magnetic Resonance Imaging (MRI) diagnostic criteria for MMD 2021 Revised Version. Results Six children with MMD were selected for this study: four children with genetic disorders including Neurofibromatosis type 1, Down syndrome, Marfan syndrome, partial chromosomal duplications: two observed during neuroradiological investigations for mycoplasma meningoencephalitis and for traumatic brain injury. Sex, age at diagnosis, type of vascular complications, presenting symptoms and signs, treatment, and short time clinical and neurological follow-up was reported. Conclusions This study shows that MMD is a disorder presenting with a wide, heterogeneous clinical expression frequently associated with underlying congenital and acquired manifestations.