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

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.

KEYWORDS:

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

Acknowledgments

The authors would like to acknowledge the ABC (Associazione Bambini Cri du Chat) for continuous support and the patients and their families. We especially thank Sylvia Teresa Del Testa for inspiringthe start of the study.

Disclosure statement

No potential conflict of interest was reported by the authors.

Availability of data and material (data transparency)

The data are available upon request