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 Fontenele

Published 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.

Keyphrases

case report
high resolution
primary care
early onset
genome wide
gene expression
photodynamic therapy
growth hormone