Van Buchem disease

First case report in Taiwan

Shang Fu Hsu, Chen Chun Lin

研究成果: 雜誌貢獻文章

摘要

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.

原文英語
文章編號e9209
期刊Medicine (United States)
96
發行號50
DOIs
出版狀態已發佈 - 十二月 1 2017

指紋

Osteochondrodysplasias
Taiwan
Megalencephaly
Surgical Decompression
Spinal Stenosis
Chin
Trigeminal Neuralgia
Facial Paralysis
Vision Disorders
Facial Nerve
Back Pain
Rare Diseases
Mandible
Hearing Loss
Skull
Skeleton
Signs and Symptoms
Headache
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

引用此文

Van Buchem disease : First case report in Taiwan. / Hsu, Shang Fu; Lin, Chen Chun.

於: Medicine (United States), 卷 96, 編號 50, e9209, 01.12.2017.

研究成果: 雜誌貢獻文章

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