Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging
| Autor: | Filippo M. Santorelli, Guglielmo Capaldo, Simone Sampaolo, Filomena Napolitano, Chiara Terracciano, Alessandra D'Amico, Giuseppe Di Iorio, Mariarosa Ab Melone, Clemente Dato, Sabina Pappatà |
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| Přispěvatelé: | Dato, Clemente, Capaldo, Guglielmo, Terracciano, Chiara, Napolitano, Filomena, D’Amico, Alessandra, Pappatà, Sabina, Maria Santorelli, Filippo, DI IORIO, Giuseppe, Sampaolo, Simone, Melone, Mariarosa Anna Beatrice |
| Rok vydání: | 2019 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty Ataxia lcsh:R895-920 Frontal lobe dysfunction Cortical and subcortical atrophy 030218 nuclear medicine & medical imaging 03 medical and health sciences Myelopathy 0302 clinical medicine Neuroimaging Medicine Missense mutation Radiology Nuclear Medicine and imaging Adrenocortical Insufficiency business.industry X-linked adrenoleukodystrophy (X-ALD) medicine.disease 3. Good health Peripheral neuropathy Neuroradiology Frontal lobe Adrenoleukodystrophy Brain FDG-PET medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Radiology Case Reports Radiology Case Reports, Vol 14, Iss 3, Pp 309-314 (2019) |
| ISSN: | 1930-0433 |
| DOI: | 10.1016/j.radcr.2018.11.007 |
| Popis: | 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. Keywords: X-linked adrenoleukodystrophy (X-ALD), Missense mutation, Frontal lobe dysfunction, Cortical and subcortical atrophy, Brain FDG-PET |
| Databáze: | OpenAIRE |
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