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FDG PET/CT in Type I Glycogen Storage Disease

Abstract : Type I glycogen storage disease (GSD) is a rare autosomal recessive disorder caused by glucose-6-phosphatase deficiency. We report herein the particular pattern provided by FDG PET imaging in a 33-year-old patient with type Ib GSD. PET images yielded evidence of a pulmonary infectious focus as well as of: (1) a dramatically enlarged liver leading to a high global FDG uptake, (2) increased bone marrow activity, (3) splenomegalia leading to a high global spleen uptake, (4) a diffuse enhancement in muscle FDG uptake.
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Submitted on : Thursday, March 15, 2018 - 10:05:25 AM
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Chloé Manca, Marine Claudin, Arthur Belle, Pierre Yves Marie, Antoine Verger. FDG PET/CT in Type I Glycogen Storage Disease. Clinical Nuclear Medicine, Lippincott, Williams & Wilkins, 2016, 41 (4), pp.e200 - e201. ⟨10.1097/RLU.0000000000001103⟩. ⟨hal-01734818⟩



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