18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome

Angelina Cistaro, Natale Quartuccio, Arnoldo Piccardo, Piercarlo Fania, Marianna Spunton, Alexandra Liava, Cesare Danesino, Giovanni Albani, Andrea Guala

Research output: Contribution to journalArticlepeer-review


Cri du chat syndrome (CDCS) is a rare genetic disease that is caused by a deletion in the short arm of chromosome 5 (5p) and has a variable clinical spectrum. To our knowledge, no study in the literature has ever applied 18F-FDG PET/CT to investigate alterations in brain glucose metabolism in these subjects. The aims of this study were to detect differences in brain 18F-FDG metabolism in CDCS patients with different clinical presentations and identify possible brain metabolic phenotypes of this syndrome. Methods: Six patients (5 male and 1 female; age range, 10-27 y) with CDCS were assessed for the presence of cognitive and behavioral symptoms using a battery of neuropsychologic tests and then classified as having either a severe or a mild phenotype. The patients then underwent brain 18F-FDG PET/CT. The PET/CT findings were compared with an age- and sex-matched control group using statistical parametric mapping (SPM). Whether there was an association between different clinical phenotypes and 18F-FDG PET/CT findings was investigated. Results: Four patients had the severe phenotype, and 2 patients demonstrated the mild phenotype. SPM single-subject analysis, and a group analysis in comparison with the control cohort, revealed significant hypometabolism in the left temporal lobe (Brodmann areas [BAs] 20, 36, and 38), in the right frontal subcallosal gyrus (BA 34) and caudate body, and in the cerebellar tonsils (P < 0.001). Hypermetabolism (P = 0.001) was revealed in the right superior and precentral frontal gyrus (BA 6) in the patient group, compared with the control cohort. In SPM single-subject analysis, the hypermetabolic areas were detected only in patients with the severe phenotype. Conclusion: This study revealed different patterns of brain glucose metabolism in patients with the severe and mild phenotypes, compared with control subjects. In particular, abnormal hypermetabolism in the brain, as evaluated by18F-FDG PET/CT, seems to correlate with the severe CDCS phenotype.

Original languageEnglish
Pages (from-to)1195-1199
Number of pages5
JournalJournal of nuclear medicine : official publication, Society of Nuclear Medicine
Issue number8
Publication statusPublished - Aug 1 2020


  • 18F-FDG PET/CT
  • brain
  • cri du chat syndrome
  • hypometabolism
  • statistical parametric mapping

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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