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. 2022 Feb 1;47(2):e118-e119.
doi: 10.1097/RLU.0000000000004025.

Brain 18F-FDG PET in Cowden Syndrome

Justine Grangeret  1 , Solene Frismand  2 , Marie Muller, Mathilde Renaud, Antoine Verger
Affiliations

Brain 18F-FDG PET in Cowden Syndrome

Justine Grangeret et al. Clin Nucl Med. .

Abstract

Cowden disease is associated with neurodevelopmental abnormalities such as macrocephaly, autism spectrum disorder, and developmental delay. Our understanding of neuroimaging anomalies in patients with PTEN mutations is limited to anatomical MRI abnormalities including white matter abnormalities, meningiomas, arteriovenous malformations, and cortical dysplasia. Our current communication extends the neurological Cowden syndrome phenotype by using brain 18F-FDG PET/CT imaging as a useful complementary approach to MRI to explore movement disorders and neuropsychiatric syndromes in a patient with Cowden disease. Brain 18F-FDG PET/CT showed diffuse hypometabolism of the prefrontal mesial and dorsolateral areas including supplementary motor areas, the pons extended to the cerebellum.

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Conflict of interest statement

Conflicts of interest and sources of funding: none declared.

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