Literature DB >> 18751796

Hereditary neuropathy with liability to pressure palsies: case report and discussion.

Marc J Grossman1, Joseph Feinberg, Edward F DiCarlo, Sherri B Birchansky, Scott W Wolfe.   

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an uncommon diagnosis that should be considered in patients with multiple compressive neuropathies. We present the case of a woman who presented with bilateral hand numbness and weakness. Electrodiagnostic testing revealed bilateral carpal tunnel syndrome, bilateral ulnar neuropathy at the elbow, left peroneal neuropathy at the fibular head, and a primarily demyelinating generalized sensorimotor neuropathy. Subsequent genetic testing identified a deletion at chromosome 17p11.2 to confirm the diagnosis of HNPP. Treatment of this largely self-limiting disease is controversial, and this patient suffered minimal disability with treatment including splinting and surgical releases.

Entities:  

Year:  2007        PMID: 18751796      PMCID: PMC2504259          DOI: 10.1007/s11420-007-9056-1

Source DB:  PubMed          Journal:  HSS J        ISSN: 1556-3316


  20 in total

1.  Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.

Authors:  O Dubourg; P Mouton; A Brice; E LeGuern; P Bouche
Journal:  Neuromuscul Disord       Date:  2000-03       Impact factor: 4.296

2.  Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies.

Authors:  P B Andersson; E Yuen; K Parko; Y T So
Journal:  Neurology       Date:  2000-01-11       Impact factor: 9.910

3.  Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion.

Authors:  J Infante; A García; O Combarros; J I Mateo; J Berciano; M J Sedano; E J Gutiérrez-Rivas; F Palau
Journal:  Muscle Nerve       Date:  2001-09       Impact factor: 3.217

4.  Hereditary neuropathy with liability to pressure palsies: the first publication (1947).

Authors:  Peter J Koehler
Journal:  Neurology       Date:  2003-04-08       Impact factor: 9.910

5.  Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy.

Authors:  J E Lane; G D Foulkes; T D Hope; V I Mayorov; L Adkison
Journal:  J Hand Surg Am       Date:  2001-07       Impact factor: 2.230

6.  Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

Authors:  N Bissar-Tadmouri; Y Parman; L Boutrand; F Deymeer; P Serdaroglu; A Vandenberghe; E Battaloglu
Journal:  Clin Genet       Date:  2000-11       Impact factor: 4.438

7.  Fulminant case of hereditary neuropathy with liability to pressure palsy.

Authors:  B A Crum; E J Sorenson; G A Abad; P J Dyck
Journal:  Muscle Nerve       Date:  2000-06       Impact factor: 3.217

8.  Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.

Authors:  Jun Li; Karen Krajewski; Richard A Lewis; Michael E Shy
Journal:  Muscle Nerve       Date:  2004-02       Impact factor: 3.217

9.  Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.

Authors:  Jun Li; Karen Krajewski; Michael E Shy; Richard A Lewis
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910

10.  Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies.

Authors:  Roy Beekman; Leo H Visser
Journal:  J Clin Ultrasound       Date:  2002-09       Impact factor: 0.910

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  3 in total

Review 1.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

2.  Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients.

Authors:  Xiaobo Li; Xiaohong Zi; Lin Li; Yajing Zhan; Shunxiang Huang; Jin Li; Xuning Li; Xigui Li; Zhengmao Hu; Kun Xia; Beisha Tang; Ruxu Zhang
Journal:  Neural Regen Res       Date:  2012-11-15       Impact factor: 5.135

3.  DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).

Authors:  Wei-Wei Wang; Chun-Li Song; Liang Huang; Qing-Wei Song; Zhan-Hua Liang; Qiang Wei; Jia-Ni Hu; Yan-Wei Miao; Bing Wu; Lizhi Xie
Journal:  Medicine (Baltimore)       Date:  2015-10       Impact factor: 1.817

  3 in total

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