Case Reports in Neurology (Jun 2020)

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome

  • Roshni Dhoot,
  • Katelyn Payne,
  • John K. Fink,
  • Robert M. Pascuzzi

DOI
https://doi.org/10.1159/000507954
Journal volume & issue
Vol. 12, no. 2
pp. 165 – 168

Abstract

Read online

DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. We report an individual in which DiGeorge syndrome was associated with progressive spastic paraparesis. This report extends the clinical phenotype of DiGeorge syndrome and presents the differential diagnosis of progressive spastic paraparesis in individuals with DiGeorge syndrome which provides insight into the clinical evaluation of such individuals.

Keywords