Role of MRI in X-linked adrenoleukodystrophy—A case report
X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its accumulation in plasma and tissues of the body....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-11-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322007130 |
| Summary: | X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its accumulation in plasma and tissues of the body. Due to its X-linked inheritance, it classically affects young males with most cases diagnosed during childhood. There are characteristic MRI findings in brain which can aid in diagnosis of X-ALD. We hereby present a case of a 10-year-old boy who presented with neurological and behavioral deterioration with MRI findings suggestive of X-ALD. MRI not only aids in diagnosis of X-ALD but can also identify the pattern of brain involvement which serves an important role in prognosis and outcome of the disease. |
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| ISSN: | 1930-0433 |