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PMID: 26761923 已发表 · ppublish 英语

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.

American journal of orthopedics (Belle Mead, N.J.) ·第 45 卷 ·第 1 期 ·2016-09-23

Kramer Mark, Ly Amy, Li Jun

摘要

The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic. Lack of symptoms can contribute to underrecognition of the disease.

文献信息
期刊
American journal of orthopedics (Belle Mead, N.J.)
期刊简称
Am J Orthop (Belle Mead NJ)
ISSN
1934-3418
发表日期
2016-09-23
收录日期
2016-01-14
更新日期
2016-10-19
语言
英语
国家/地区
United States
NLM ID
9502918
外部链接
PubMed 原文
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