18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome

Angelina Cistaro, Irene Giovanna Schiera, Piercarlo Fania, Fabio Tognon, Alexandra Liava, Cesare Danesino, Giovanni Albani, Andrea Guala, Alberto Vogrig, Natale Quartuccio

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the first report on the genotype-phenotype patterns and [18F] fluoro-deoxygluycose (18F-FDG) Positron Emission Tomography (PET) findings in two disease-discordant monozygotic twins with Cri du Chat syndrome (CdcS) presenting deletion of 5p, 46, XY, del(5)(p14)/46, XY. One twin showed a severe phenotype; significant 18F-FDG PET hypometabolism (p=0.001) was revealed in the left and right hemispheres, thalamus, cerebellum, and midbrain, whereas hypermetabolism was detected in the left premotor cortex. The other twin presented a mild phenotype; significant hypometabolism was detected only in the right side (parahippoccampal gyrus and cerebellum). Further studies should investigate the causes of phenotypic discordance in twins with CdcS.

Original languageEnglish
Pages (from-to)319-322
Number of pages4
JournalNeurocase
Volume27
Issue number3
DOIs
Publication statusPublished - 2021

Keywords

  • 5p deletion
  • brain
  • cerebral metabolism
  • Cri du Chat
  • PET
  • positron emission tomography

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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