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Van Buchem disease: First case report in Taiwan

RATIONALE: Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. PATIENT CONCERNS: A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age...

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Autores principales: Hsu, Shang-Fu, Lin, Chen-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815756/
https://www.ncbi.nlm.nih.gov/pubmed/29390344
http://dx.doi.org/10.1097/MD.0000000000009209
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author Hsu, Shang-Fu
Lin, Chen-Chun
author_facet Hsu, Shang-Fu
Lin, Chen-Chun
author_sort Hsu, Shang-Fu
collection PubMed
description RATIONALE: Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. PATIENT CONCERNS: A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40. DIAGNOSES: She received a diagnosis of VBD based on the phenotypic abnormalities of the skull and mandible, facial nerve involvement, radiological images of the skeleton, and her family history. INTERVENTIONS: She received symptomatic treatment and surgical decompression for spinal stenosis. OUTCOMES: Her clinical condition did not improve satisfactorily. LESSONS: We hope to promote clinician awareness of this very rare disease and its symptoms and signs. A comprehensive understanding of VBD might lead to the development of a curative therapy in the future.
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spelling pubmed-58157562018-02-28 Van Buchem disease: First case report in Taiwan Hsu, Shang-Fu Lin, Chen-Chun Medicine (Baltimore) 4100 RATIONALE: Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. PATIENT CONCERNS: A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40. DIAGNOSES: She received a diagnosis of VBD based on the phenotypic abnormalities of the skull and mandible, facial nerve involvement, radiological images of the skeleton, and her family history. INTERVENTIONS: She received symptomatic treatment and surgical decompression for spinal stenosis. OUTCOMES: Her clinical condition did not improve satisfactorily. LESSONS: We hope to promote clinician awareness of this very rare disease and its symptoms and signs. A comprehensive understanding of VBD might lead to the development of a curative therapy in the future. Wolters Kluwer Health 2017-12-15 /pmc/articles/PMC5815756/ /pubmed/29390344 http://dx.doi.org/10.1097/MD.0000000000009209 Text en Copyright © 2017 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0
spellingShingle 4100
Hsu, Shang-Fu
Lin, Chen-Chun
Van Buchem disease: First case report in Taiwan
title Van Buchem disease: First case report in Taiwan
title_full Van Buchem disease: First case report in Taiwan
title_fullStr Van Buchem disease: First case report in Taiwan
title_full_unstemmed Van Buchem disease: First case report in Taiwan
title_short Van Buchem disease: First case report in Taiwan
title_sort van buchem disease: first case report in taiwan
topic 4100
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815756/
https://www.ncbi.nlm.nih.gov/pubmed/29390344
http://dx.doi.org/10.1097/MD.0000000000009209
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