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The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature

RATIONALE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. PATIENT CONCERNS: We described a 40-year-old male pati...

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Autores principales: Ma, Chi, Ren, Yan-De, Wang, Jia-Chen, Wang, Cheng-Jian, Zhao, Ji-Ping, Zhou, Tong, Su, Hua-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939202/
https://www.ncbi.nlm.nih.gov/pubmed/33655933
http://dx.doi.org/10.1097/MD.0000000000024687
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author Ma, Chi
Ren, Yan-De
Wang, Jia-Chen
Wang, Cheng-Jian
Zhao, Ji-Ping
Zhou, Tong
Su, Hua-Wei
author_facet Ma, Chi
Ren, Yan-De
Wang, Jia-Chen
Wang, Cheng-Jian
Zhao, Ji-Ping
Zhou, Tong
Su, Hua-Wei
author_sort Ma, Chi
collection PubMed
description RATIONALE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. PATIENT CONCERNS: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. DIAGNOSIS: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. INTERVENTIONS: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). OUTCOMES: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. LESSONS: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.
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spelling pubmed-79392022021-03-08 The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature Ma, Chi Ren, Yan-De Wang, Jia-Chen Wang, Cheng-Jian Zhao, Ji-Ping Zhou, Tong Su, Hua-Wei Medicine (Baltimore) 6800 RATIONALE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. PATIENT CONCERNS: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. DIAGNOSIS: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. INTERVENTIONS: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). OUTCOMES: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. LESSONS: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX. Lippincott Williams & Wilkins 2021-03-05 /pmc/articles/PMC7939202/ /pubmed/33655933 http://dx.doi.org/10.1097/MD.0000000000024687 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 6800
Ma, Chi
Ren, Yan-De
Wang, Jia-Chen
Wang, Cheng-Jian
Zhao, Ji-Ping
Zhou, Tong
Su, Hua-Wei
The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title_full The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title_fullStr The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title_full_unstemmed The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title_short The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
title_sort clinical and imaging features of cerebrotendinous xanthomatosis: a case report and review of the literature
topic 6800
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939202/
https://www.ncbi.nlm.nih.gov/pubmed/33655933
http://dx.doi.org/10.1097/MD.0000000000024687
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