18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.
Neurocase
; 27(3): 319-322, 2021 06.
Article
en En
| MEDLINE
| ID: mdl-34338587
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fluorodesoxiglucosa F18
/
Síndrome del Maullido del Gato
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Neurocase
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Italia