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

Abstract

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 18 F-FDG PET/CT to investigate alterations in brain glucose metabolism in these subjects. The aims of this study were to detect differences in brain 18 F-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 18 F-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 18 F-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 5 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 by 18 F-FDG PET/CT, seems to correlate with the severe CDCS phenotype.

Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome

“…Areas of hypometabolism were detected in the posterior cingulate cortex, inferior parietal gyrus, and dorsolateral frontal cortex. These areas represent novel findings, because the hypometabolic regions reported in the previous literature are the left temporal lobe, the right frontal subcallosal gyrus, the caudate body, the thalamus, the cerebellum, and the midbrain [12,18]. These areas' findings may be correlated with some clinical features of this patient, such as the movement disorder with the cerebellar hypometabolic finding.…”

“…At the same time, aged 28 years old, the patient underwent a 18f-fluorodeoxyglucose ( 18 F-FDG) Positron Emission Tomography (PET)/computed tomography (CT) scan of the brain to investigate alterations in brain glucose metabolism. This investigation was performed with the aim of detecting differences in brain 18 F-FDG metabolism in CdC patients with different clinical presentations and to identify possible brain metabolic phenotypes of this syndrome [12].…”

Brain positron emission tomography in idiopathic normal-pressure hydrocephalus: new 18F-fluorodeoxyglucose pattern in a long-known syndrome

“…To the best of our knowledge, this is the first report demonstrating a hypermetabolic pattern in the primary and premotor areas in patients with iNPH [18]. We could postulate that hypermetabolism may be determined by synaptic hyperactivity, contributing itself to motor symptoms in these patients, since these regions are connected to the spinal cord via the cortico-ponto-cerebellar pathway [19,20]. Increased astrocytosis, a sign of microglial activation, has been associated with 18 F-FDG hypermetabolism in other diseases [21].…”

Voice Analysis in 63 Italian Cri du Chat Patients

“…The only anatomical and functional available observation in patients with CdC was provided by Cistaro, et al using ( 18) F-fluorodexyglucose PET, who observed in six cases that the main hypometabolic region detected was the left inferior temporal and homolateral temporal pole cortex (Broadman area 20, 34 36, 38) [19]. These regions are involved in verbal production and comprehension, working memory and selective attention to speech.…”