Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imag...
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| Format: | Article |
| Language: | English |
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European Medical Journal
2023-08-01
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| Series: | European Medical Journal Neurology |
| Online Access: | https://www.emjreviews.com/neurology/article/cerebrotendinous-xanthomatosis-a-clinical-series-illustrating-the-radiological-findings/ |
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| author | Shubham Saini Neha Bagri |
| author_facet | Shubham Saini Neha Bagri |
| author_sort | Shubham Saini |
| collection | DOAJ |
| description |
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis. |
| format | Article |
| id | doaj-art-009f5d822a9243a59f95a5eaf06a10e7 |
| institution | DOAJ |
| issn | 2054-4529 |
| language | English |
| publishDate | 2023-08-01 |
| publisher | European Medical Journal |
| record_format | Article |
| series | European Medical Journal Neurology |
| spelling | doaj-art-009f5d822a9243a59f95a5eaf06a10e72025-08-20T02:43:42ZengEuropean Medical JournalEuropean Medical Journal Neurology2054-45292023-08-0111111910.33590/emjneurol/10302157Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological FindingsShubham Saini0Neha Bagri1Department of Radiodiagnosis, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, IndiaDepartment of Radiodiagnosis, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis.https://www.emjreviews.com/neurology/article/cerebrotendinous-xanthomatosis-a-clinical-series-illustrating-the-radiological-findings/ |
| spellingShingle | Shubham Saini Neha Bagri Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings European Medical Journal Neurology |
| title | Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings |
| title_full | Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings |
| title_fullStr | Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings |
| title_full_unstemmed | Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings |
| title_short | Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings |
| title_sort | cerebrotendinous xanthomatosis a clinical series illustrating the radiological findings |
| url | https://www.emjreviews.com/neurology/article/cerebrotendinous-xanthomatosis-a-clinical-series-illustrating-the-radiological-findings/ |
| work_keys_str_mv | AT shubhamsaini cerebrotendinousxanthomatosisaclinicalseriesillustratingtheradiologicalfindings AT nehabagri cerebrotendinousxanthomatosisaclinicalseriesillustratingtheradiologicalfindings |