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PMID: 24251057 已发表 · ppublish 英语

Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report.

Case reports in pediatrics ·第 2013 卷 ·2013-11-19

Flor-de-Lima Filipa, Macedo Liliana, Taipa Ricardo, Melo-Pires Manuel, Rodrigues Maria Lurdes

摘要

Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, "sausage-like" swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

文献信息
期刊
Case reports in pediatrics
期刊简称
Case Rep Pediatr
ISSN
2090-6803
发表日期
2013-11-19
收录日期
2013-11-19
更新日期
2013-11-22
语言
英语
国家/地区
United States
NLM ID
101581030
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