Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.
Paulo Ribeiro NóbregaFrancisco Bruno Santana da CostaPedro Gustavo Barros RodriguesThais de Maria Frota VasconcelosDanyela Martins Bezerra SoaresJéssica Silveira AraújoDaniel Aguiar DiasManoel Alves Sobreira-NetoAnderson Rodrigues Brandão de PaivaPedro Braga NetoFernando KokEveline Gadelha Pereira FontenelePublished in: BMC neurology (2022)
With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing.