Paediatric cerebrovascular syndromes: imaging clues to a diagnosis

Central nervous system (CNS) vascular syndromes are being increasingly recognized and diagnosed in the paediatric population. Their rarity and complexity makes diagnosis challenging. These syndromes can present in a number of different ways clinically and radiologically. A systematic method of image interpretation often reveals a pattern, allowing the diagnosis to be narrowed or further testing to be directed. Although the CNS vascular appearance itself is rarely specific, additional information gleaned from imaging other systems aids in pattern recognition. We retrospectively reviewed paediatric cases of CNS vasculopathy with a confirmed diagnosis of a syndromic disorder. We recorded the predominant CNS vascular appearance in each case, and assessed imaging clues from multiple systems, including brain, orbits, skull, spine, long bones, viscera, and skin. Several of these syndromes also had systemic vascular involvement, which allowed further categorization. Some imaging patterns allowed a specific diagnosis to be made. In other cases, the constellations of imaging appearances helped distinguish between clinically similar phenotypes. The imaging pattern within each paediatric CNS vascular syndrome is fairly consistent, and awareness of these syndromes and expected imaging patterns allow the radiologist to suggest further imaging or targeted genetic testing.