An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis
<b>Background and Clinical Significance:</b> Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the <i>CYP27A1</i> gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents with a...
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2025-05-01
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| author | Mariya Levkova Mari Hachmeriyan Margarita Grudkova Mihael Tsalta-Mladenov Ara Kaprelyan |
| author_facet | Mariya Levkova Mari Hachmeriyan Margarita Grudkova Mihael Tsalta-Mladenov Ara Kaprelyan |
| author_sort | Mariya Levkova |
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| description | <b>Background and Clinical Significance:</b> Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the <i>CYP27A1</i> gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents with a broad spectrum of symptoms affecting multiple organs and systems, including the eyes, central nervous system, tendons, and skeletal muscles. Due to its heterogeneous and often ambiguous clinical manifestations, CTX is frequently misdiagnosed or remains undiagnosed for years. <b>Case Presentation</b>: We report the case of a 37-year-old male who was admitted to our university hospital with a long-standing history of progressive muscle weakness in the arms and legs. His medical history revealed bilateral cataract surgery in childhood, cognitive decline, epilepsy, and bilateral round swellings of the Achilles tendons, suspected to be xanthomas. A clinical diagnosis of CTX was established, and sequencing analysis confirmed the presence of a homozygous pathogenic variant in the <i>CYP27A1</i> gene. Despite the unavailability of chenodeoxycholic acid (CDCA) therapy in Bulgaria, symptomatic management was provided. <b>Conclusions</b>: This case underscores the diagnostic challenges associated with CTX and highlights the prolonged diagnostic journey faced by patients with rare neurogenetic disorders. It also emphasizes the need for increased awareness and early recognition of such conditions to improve patient outcomes. |
| format | Article |
| id | doaj-art-7929ff597edd4561a9523a866048d8a3 |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-05-01 |
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| spelling | doaj-art-7929ff597edd4561a9523a866048d8a32025-08-20T03:27:42ZengMDPI AGReports2571-841X2025-05-01827710.3390/reports8020077An Ultra-Rare Disorder: Case Report on Cerebrotendinous XanthomatosisMariya Levkova0Mari Hachmeriyan1Margarita Grudkova2Mihael Tsalta-Mladenov3Ara Kaprelyan4Department of Medical Genetics, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, BulgariaDepartment of Medical Genetics, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, BulgariaDepartment of Neurology and Neuroscience, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, BulgariaDepartment of Neurology and Neuroscience, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, BulgariaDepartment of Neurology and Neuroscience, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, Bulgaria<b>Background and Clinical Significance:</b> Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the <i>CYP27A1</i> gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents with a broad spectrum of symptoms affecting multiple organs and systems, including the eyes, central nervous system, tendons, and skeletal muscles. Due to its heterogeneous and often ambiguous clinical manifestations, CTX is frequently misdiagnosed or remains undiagnosed for years. <b>Case Presentation</b>: We report the case of a 37-year-old male who was admitted to our university hospital with a long-standing history of progressive muscle weakness in the arms and legs. His medical history revealed bilateral cataract surgery in childhood, cognitive decline, epilepsy, and bilateral round swellings of the Achilles tendons, suspected to be xanthomas. A clinical diagnosis of CTX was established, and sequencing analysis confirmed the presence of a homozygous pathogenic variant in the <i>CYP27A1</i> gene. Despite the unavailability of chenodeoxycholic acid (CDCA) therapy in Bulgaria, symptomatic management was provided. <b>Conclusions</b>: This case underscores the diagnostic challenges associated with CTX and highlights the prolonged diagnostic journey faced by patients with rare neurogenetic disorders. It also emphasizes the need for increased awareness and early recognition of such conditions to improve patient outcomes.https://www.mdpi.com/2571-841X/8/2/77cerebrotendinous xanthomatosisxanthomacataractrare disordercase report |
| spellingShingle | Mariya Levkova Mari Hachmeriyan Margarita Grudkova Mihael Tsalta-Mladenov Ara Kaprelyan An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis Reports cerebrotendinous xanthomatosis xanthoma cataract rare disorder case report |
| title | An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis |
| title_full | An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis |
| title_fullStr | An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis |
| title_full_unstemmed | An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis |
| title_short | An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis |
| title_sort | ultra rare disorder case report on cerebrotendinous xanthomatosis |
| topic | cerebrotendinous xanthomatosis xanthoma cataract rare disorder case report |
| url | https://www.mdpi.com/2571-841X/8/2/77 |
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