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Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report

BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and r...

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Autores principales: Razi, Syed Mohd, Gupta, Abhinav Kumar, Gupta, Deepak Chand, Gutch, Manish, Gupta, Keshav Kumar, Usman, Syeda Iqra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837582/
https://www.ncbi.nlm.nih.gov/pubmed/27094915
http://dx.doi.org/10.1186/s13256-016-0882-y
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author Razi, Syed Mohd
Gupta, Abhinav Kumar
Gupta, Deepak Chand
Gutch, Manish
Gupta, Keshav Kumar
Usman, Syeda Iqra
author_facet Razi, Syed Mohd
Gupta, Abhinav Kumar
Gupta, Deepak Chand
Gutch, Manish
Gupta, Keshav Kumar
Usman, Syeda Iqra
author_sort Razi, Syed Mohd
collection PubMed
description BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. CONCLUSIONS: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.
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spelling pubmed-48375822016-04-21 Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report Razi, Syed Mohd Gupta, Abhinav Kumar Gupta, Deepak Chand Gutch, Manish Gupta, Keshav Kumar Usman, Syeda Iqra J Med Case Rep Case Report BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. CONCLUSIONS: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis. BioMed Central 2016-04-19 /pmc/articles/PMC4837582/ /pubmed/27094915 http://dx.doi.org/10.1186/s13256-016-0882-y Text en © Razi et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Razi, Syed Mohd
Gupta, Abhinav Kumar
Gupta, Deepak Chand
Gutch, Manish
Gupta, Keshav Kumar
Usman, Syeda Iqra
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title_full Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title_fullStr Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title_full_unstemmed Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title_short Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
title_sort cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837582/
https://www.ncbi.nlm.nih.gov/pubmed/27094915
http://dx.doi.org/10.1186/s13256-016-0882-y
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