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 |
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Elsevier
2022-11-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322007130 |
| _version_ | 1811264989933076480 |
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| author | Sajiva Aryal, MBBS Suraj Sharma, MBBS, MD Saroj Poudel, MBBS Sunita Sharma, MPH |
| author_facet | Sajiva Aryal, MBBS Suraj Sharma, MBBS, MD Saroj Poudel, MBBS Sunita Sharma, MPH |
| author_sort | Sajiva Aryal, MBBS |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T20:14:29Z |
| format | Article |
| id | doaj.art-16c0c1d7d73746ea80398c90ba55a988 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-04-12T20:14:29Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-16c0c1d7d73746ea80398c90ba55a9882022-12-22T03:18:10ZengElsevierRadiology Case Reports1930-04332022-11-01171144034407Role of MRI in X-linked adrenoleukodystrophy—A case reportSajiva Aryal, MBBS0Suraj Sharma, MBBS, MD1Saroj Poudel, MBBS2Sunita Sharma, MPH3Kathmandu Medical College, Kathmandu, Nepal; Corresponding author.Bir Hospital, NepalChitwan Medical College, Chitwan, NepalTribhuwan University Teaching Hospital, Kathmandu, NepalX-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.http://www.sciencedirect.com/science/article/pii/S1930043322007130AdrenoleukodystrophyVery long chain fatty acidsX-linked disorder |
| spellingShingle | Sajiva Aryal, MBBS Suraj Sharma, MBBS, MD Saroj Poudel, MBBS Sunita Sharma, MPH Role of MRI in X-linked adrenoleukodystrophy—A case report Radiology Case Reports Adrenoleukodystrophy Very long chain fatty acids X-linked disorder |
| title | Role of MRI in X-linked adrenoleukodystrophy—A case report |
| title_full | Role of MRI in X-linked adrenoleukodystrophy—A case report |
| title_fullStr | Role of MRI in X-linked adrenoleukodystrophy—A case report |
| title_full_unstemmed | Role of MRI in X-linked adrenoleukodystrophy—A case report |
| title_short | Role of MRI in X-linked adrenoleukodystrophy—A case report |
| title_sort | role of mri in x linked adrenoleukodystrophy a case report |
| topic | Adrenoleukodystrophy Very long chain fatty acids X-linked disorder |
| url | http://www.sciencedirect.com/science/article/pii/S1930043322007130 |
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