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Radiol Case Rep. 2018 Dec 5;14(3):309-314. doi: 10.1016/j.radcr.2018.11.007. eCollection 2019 Mar.

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

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Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.
Department of Advanced Biomedical Sciences, "Federico II" University, Via Sergio Pansini, 80131 Naples, Italy.
Institute of Biostructure and Bioimaging, National Research Council, Via Pietro Castellino 111, 80131 Naples, Italy.
IRCCS Stella Maris, Molecular Medicine and Neuromuscular Disorders, Viale del Tirreno 331, 56128 Pisa, Calambrone, Italy.
Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, 1803 N. Broad Street, Philadelphia, PA 19122, USA.


X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their subsequent accumulation in several organs and tissues. X-ALD is notable for its high phenotypical variability, that includes isolated adrenocortical insufficiency, slowly progressive myelopathy with paraparesis, ataxia, and peripheral neuropathy to severe childhood cerebral forms. Here, we describe the case of an X-ALD patient with a p.Gly343Val mutation in ABCD1 gene, who presented in adulthood with a spinal syndrome of mild severity, and later developed a progressive cognitive and behavioral syndrome. Our patient showed a striking correlation between clinical phenotype and neuroimaging, including a brain fluoro-2-deoxy-d-glucose positron emission tomography that displayed an atypical cerebral glucose metabolism.


Brain FDG-PET; Cortical and subcortical atrophy; Frontal lobe dysfunction; Missense mutation; X-linked adrenoleukodystrophy (X-ALD)

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