18 F-FDG muscular superscan associated with lipid storage myopathy
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IMAGE OF THE MONTH
18
F-FDG muscular superscan associated with lipid storage myopathy
Yonggang Cui 1 & Xueqi Chen 1 & Zhanli Fu 1 Received: 14 February 2020 / Accepted: 12 March 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
A 57-year-old woman presented with progressive proximal muscle weakness for 1 year and chewing weakness for 1 month. Laboratory tests showed elevated creatinine kinase and lactate dehydrogenase. Electromyography revealed early recruitment of the motor units, increased polyphasic potentials, and low amplitude potentials of short duration in the examined skeletal muscles, indicating diffuse myopathy. The MRI of the thighs demonstrated mild muscular fat infiltration and atrophy (Online Resource, Fig. S1). 18F-FDG PET/CT was performed to exclude a potential paraneoplastic syndrome. The MIP image of PET (A) demonstrated diffusely increased 18FFDG uptake throughout whole-body skeletal muscle, presenting as a pattern of muscular “superscan.” No cardiac morphological abnormalities and no myocardial uptake were noted on PET/CT images (Online Resource, Fig. S2). The patient fasted overnight with a normal prescan serum glucose level and did not engage in strenuous exercise prior to PET/CT scan. The deltoid muscle biopsy revealed vacuolar change (B, hematoxylin-eosin stain) and increased lipid accumulation (C, oil-red-O stain) mainly in type 1 fibers, suggestive of a lipid storage myopathy (LSM). Multiple acyl-CoA dehydrogenase
This article is part of the Topical Collection on Image of the month Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00259-020-04775-1) contains supplementary material, which is available to authorized users. * Zhanli Fu [email protected] 1
Department of Nuclear Medicine, Peking University First Hospital, No.8, Xishiku St., West District, Beijing 100034, China
deficiency (MADD) was confirmed subsequently by the sequencing analysis of electron transfer flavoprotein dehydrogenase (ETFDH) gene, which revealed the compound heterozygous mutations composed of c.872T>G and c.1227A>C, and LSM associated with late-onset MADD was finally diagnosed. The patient’s symptoms and biochemical abnormalities were gradually relieved with oral riboflavin supplementation, and the follow-up 18 F-FDG PET/CT showed a greatly alleviated muscle hypermetabolism (D). LSM is a heterogeneous group of disorders characterized by impaired oxidation of fatty acids, leading to accumulation of lipid droplets in muscle fibers [1]. Late-onset MADD, an autosomal recessive inherited disease mainly caused by ETFDH mutation, is the most common etiology of LSM in China, showing a dramatic clinical response to riboflavin [2]. This case indicates that 18F-FDG PET/CT may be a valuable method for noninvasive evaluation of LSM, and on the other hand, LSM should be taken into consideration as a rare differential diagnosis for diseases with the similar metabolic pattern on 18F-FDG PET/CT [3–5], even if the specific mechanism of LSM-associated muscular hyper
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