Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association

•6p genomic region rearrangements can be associated with moyamoya angiopathy.•6p region becomes a candidate genetic locus for cerebral vasculopathies.•Brain magnetic angiogram is suggested in individuals carrying 6p rearrangements.•CGH-array could be considered in patients with otherwise unexplained moyamoya.

BackgroundMoyamoya syndrome represents an etiologically heterogeneous cerebral evolutive angiopathy. It can be associated with both well-characterized and recently described genetic conditions with mendelian inheritance.Case reportWe report the case of a moyamoya angiopathy in a prematurely born girl affected by congenital heart defect, mild facial dysmorphism, mild neurodevelopmental delay and borderline cognitive profile, associated to a de novo complex rearrangement involving the terminal segment of the short arm of chromosome 6.ConclusionTo the best of our knowledge, this is the second case described of pediatric moyamoya syndrome associated with a 6p complex rearrangement. Adding this case to the pertinent literature, we discuss the pathogenic role of rearrangements in 6p region in moyamoya syndrome and suggest to investigate in this region potential genes involved in angiogenesis or vascular homeostasis.