Abstract：
INTRODUCTION:Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder of peripheral myelin characterized by episodes of recurrent mononeuropathies usually involving nerves at common sites of entrapment and compression. Additional features include evidence of a diffuse demyelinating sensorimotor polyneuropathy on nerve conduction studies, focal myelin thickening (tomacula) on sural nerve biopsy, and a 1.5 Mb deletion on 17p11.2 encompassing the peripheral myelin protein 22 (PMP22) gene in most families. PATIENTS AND METHODS:Two girls, aged 10 and 12 years, presented with peroneal nerve palsy and peroneal nerve palsy plus tibial nerve palsy, respectively. In none case, a clear causal factor was recognizable. Neurophysiological studies: both cases showed diffuse sensory and motor nerve conduction velocity slowing and prolongation of distal motor latencies. In addition, features of focal entrapment neuropathy were obtained at proximal peroneal nerve level. Sural nerve biopsy: large axons demyelination, redundant myelin and intraaxonal looping (case 1) and tomaculas (case 2). Molecular genetics: 17p12-p11 deletion was demonstrated in both affected girls, the mother and two maternal uncles of case 1 and in the father, paternal grandfather and two paternal uncles of case 2. CONCLUSIONS:NHPP should be suspected in cases of peripheral neuropathy without clearly recognizable cause. Electrophysiological and molecular studies permit both delineation of the condition and identification of otherwise clinically normal family members.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Eirís-Punal J,Vidal-Lijó M,Barros-Angueira F,Lopez-Fernández MJ,Pintos-Martínez E,Beiras-Iglesias A,Castro-Gago Msubject
Has Abstractpub_date
2000-09-16 00:00:00pages
506-10issue
6eissn
0210-0010issn
1576-6578journal_volume
31pub_type
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journal_title：Revista de neurologia
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journal_title：Revista de neurologia
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
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pub_type： 历史文章,杂志文章
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pub_type： 杂志文章,评审
doi：
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1995-03-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 社论
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更新日期：1998-04-01 00:00:00
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journal_title：Revista de neurologia
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更新日期：2007-03-16 00:00:00
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journal_title：Revista de neurologia
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doi：
更新日期：1996-04-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-10-01 00:00:00
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doi：
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journal_title：Revista de neurologia
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journal_title：Revista de neurologia
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-07-16 00:00:00
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journal_title：Revista de neurologia
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doi：
更新日期：2009-02-01 00:00:00
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doi：
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2008-12-16 00:00:00
