18F-FDG PET/CT and Gaucher Disease: A Suggestive Metabolic Signature
Year: 2025
Type: article
Study design: Case Report
Abstract: 18F-FDG positron emission tomography (FDG-PET) is a metabolic imaging technique used in many pathologies, including Gaucher disease (GD), a rare lysosomal disorder caused by an enzyme deficiency that leads to the accumulation of glucocerebroside in macrophages. This article presents the case of a 55-year-old man with symptoms including bone pain, anemia, and an enlarged spleen. The diagnosis of type 1 Gaucher disease was confirmed by biological and genetic analysis. PET-CT (Positron Emission Tomography-Computed Tomography) showed intense uptake in the long bones associated with signs of osteonecrosis, as well as splenic and hepatic involvement. The discussion highlights the bone manifestations of GD (osteopenia, osteonecrosis, fractures) and the limitations of conventional imaging techniques (MRI, scintigraphy, CT). FDG-PET proves to be an essential tool in disease assessment, helping to identify areas of active infiltration and guide management.
Authors: Anouar Jaouad, Amine Maach, Hicham Eddou
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4408909498