Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 309-314 |
| Number of pages | 6 |
| Journal | Radiology Case Reports |
| Volume | 14 |
| Issue number | 3 |
| DOIs | |
| Publication status | Accepted/In press - Nov 12 2018 |
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Keywords
- Brain FDG-PET
- Cortical and subcortical atrophy
- Frontal lobe dysfunction
- Missense mutation
- X-linked adrenoleukodystrophy (X-ALD)
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
Cite this
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome : Importance of neuroimaging. / Dato, Clemente; Capaldo, Guglielmo; Terracciano, Chiara; Napolitano, Filomena; D'Amico, Alessandra; Pappatà, Sabina; Santorelli, Filippo Maria; Di Iorio, Giuseppe; Sampaolo, Simone; Melone, Mariarosa AB.
In: Radiology Case Reports, Vol. 14, No. 3, 12.11.2018, p. 309-314.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome
T2 - Importance of neuroimaging
AU - Dato, Clemente
AU - Capaldo, Guglielmo
AU - Terracciano, Chiara
AU - Napolitano, Filomena
AU - D'Amico, Alessandra
AU - Pappatà, Sabina
AU - Santorelli, Filippo Maria
AU - Di Iorio, Giuseppe
AU - Sampaolo, Simone
AU - Melone, Mariarosa AB
PY - 2018/11/12
Y1 - 2018/11/12
N2 - 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.
AB - 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.
KW - Brain FDG-PET
KW - Cortical and subcortical atrophy
KW - Frontal lobe dysfunction
KW - Missense mutation
KW - X-linked adrenoleukodystrophy (X-ALD)
UR - http://www.scopus.com/inward/record.url?scp=85057785070&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85057785070&partnerID=8YFLogxK
U2 - 10.1016/j.radcr.2018.11.007
DO - 10.1016/j.radcr.2018.11.007
M3 - Article
VL - 14
SP - 309
EP - 314
JO - Radiology Case Reports
JF - Radiology Case Reports
SN - 1930-0433
IS - 3
ER -