BibTex RIS Kaynak Göster

A Case with Hereditary Nerve Palsy of Pressure Liability

Yıl 2009, Cilt: 16 Sayı: 2, 105 - 108, 01.04.2009

Semra Bilge Ülgen Kökeş Meral Çınar Tuğba Eyiipgil

Öz

A 9-year-old male has been hospitalized due to walking difficulty and acute weakness developed on the left leg. Loss of dorsiflexion on the left distal lower extremity was present in neurological examination who had not any specialty in physical examination. Electromyography was compatible with HNPP. 17p 11-2-12 deletion was determined in DNA analysis which caused HNPP. However rarely seen in childhood, case was presented aim of having in mind HNPP in acute developed paralyzes Key words: HNPP, Pressure Liability Palsy, Analysis Of DNA, EMG

Anahtar Kelimeler

HNPP Pressure Liability Palsy Analysis Of DNA EMG

Kaynakça

  • De Jong JGY. Over families met hereditaire dispositie tat het optreden van neurritiden gecorreleered met migraine. Psychiatr Neurol B (Amst) 1947;40:6.
  • Chance PF. İnherited demyelinating neuropathy. Charcot-marie- tooth disease and related disorders. İn Roserberg RN, prusiner SB, Di Mauro S, et al. eds. The molecular and genetic basis of neurological disease. Oxford; Butter worth-Heinemann, 1996;807-16.
  • Kumar N, Muley S, Pakim AS et al. Phenotypic variability in hereditary neuropathy with liability to pressure palsy (HNPP). (abstract) Neurology 1998:50;A 73.
  • Mouon P, Tardieu BS, Gouider R, et al. Spectrum of clinical and electrophysiological features in HNPP patients with the 17p 11.2 deletion Neurology 1999;52;1440-6.
  • Chance P, Alderson MK, Lepping KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72;143-51.
  • Nelis E, Van Broeckhoven C, De Longhe P et al. Estimation of the mutation frequencies in charcot-marie-tooth disease type 1 and hereditary neuropathy with liability to pressure palsies. A european collaborative study. Eur J Hum Genet 1996;4;25-33.
  • E.P Bosch, H.Mitsumoto. Disorders of peripheral nerves. Herediter Neuropathy with Liability to Pressure Palsies. Neurology in Clinical Practice Volume 2.1996;1902.
  • Parman Y.G. Ailevi Basınca Duyarlılık Nöropatisi. Herediter Nöropatiler. Türkiye KlinikleriNöroloji Dergisi Nöromuskuler Hastalıklar Özel Sayısı. 2005;1;22: 36.
  • Bodur H. Herediter Kompresyon Nöropatisi. Elektrodiagnoz. 2003 ;173.
  • Meretoja P, Silander K, Kalimo H. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997 Dec;7(8):529-32.
  • Antonini G, Luchetti A, Mastrangelo M. Early-onset hereditary neuropathy with liability to pressure palsy. Neuropediatrics. 2007 Feb;38(1):50-4.
  • György I, Bíró A. Hereditary neuropathy with liability to pressure palsy in childhood. Ideggyogy Sz. 2008 Nov 30;61(11- 12):423-5.
  • Ichikawa K, Nezu A.Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. Brain Dev. 2005 Mar;27(2):152-4.
  • Kim SM, Chung KW, Choi BO. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. Exp Mol Med. 2004 Feb 29;36(1):28-35.
  • Grossman MJ, Feinberg J. Hereditary neuropathy with liability to pressure palsies: case report and discussion. HSS J. 2007 Sep;3(2):208-12.
  • Gjerde IO, Aarskog N.Hereditary neuropathy with pressure palsies. Tidsskr Nor Laegeforen. 2001 Feb 10;121(4):426-8.

Herediter Basınca Duyarlı Nöropati Olgusu

Yıl 2009, Cilt: 16 Sayı: 2, 105 - 108, 01.04.2009

Semra Bilge Ülgen Kökeş Meral Çınar Tuğba Eyiipgil

Öz

Dokuz yaşında erkek, sol ayağında ani gelişen kuvvet azlığı ve yürüme güçlüğü ile değerlendirildi. Fizik muayenesinde özellik olmayan olgunun, nörolojik muayenesinde sol alt ekstremite distalinde dorsifleksiyon zaafı vardı. Elektromiyografi incelemesi, basınca duyarlı herediter nöropati'yi düşündürdü. DNA analizi, basınca duyarlı herediter nöropati'ye sebep olan, 17p 11.2-12 delesyonunu gösterdi. Olgu, çocuklarda nadir görülmekle birlikte basınca duyarlı herediter nöropati'nin, akut gelişen paralizilerde akılda tutulmasının vurgulanması amacıyla sunulmuştur. Anahtar kelimeler: Basınca Duyarlı Herediter Nöropati (HNPP), Basınca Duyarlı Paralizi, DNA Analizi, EMG

Anahtar Kelimeler

Basınca Duyarlı Herediter Nöropati (HNPP) Basınca Duyarlı Paralizi DNA Analizi EMG

Kaynakça

  • De Jong JGY. Over families met hereditaire dispositie tat het optreden van neurritiden gecorreleered met migraine. Psychiatr Neurol B (Amst) 1947;40:6.
  • Chance PF. İnherited demyelinating neuropathy. Charcot-marie- tooth disease and related disorders. İn Roserberg RN, prusiner SB, Di Mauro S, et al. eds. The molecular and genetic basis of neurological disease. Oxford; Butter worth-Heinemann, 1996;807-16.
  • Kumar N, Muley S, Pakim AS et al. Phenotypic variability in hereditary neuropathy with liability to pressure palsy (HNPP). (abstract) Neurology 1998:50;A 73.
  • Mouon P, Tardieu BS, Gouider R, et al. Spectrum of clinical and electrophysiological features in HNPP patients with the 17p 11.2 deletion Neurology 1999;52;1440-6.
  • Chance P, Alderson MK, Lepping KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72;143-51.
  • Nelis E, Van Broeckhoven C, De Longhe P et al. Estimation of the mutation frequencies in charcot-marie-tooth disease type 1 and hereditary neuropathy with liability to pressure palsies. A european collaborative study. Eur J Hum Genet 1996;4;25-33.
  • E.P Bosch, H.Mitsumoto. Disorders of peripheral nerves. Herediter Neuropathy with Liability to Pressure Palsies. Neurology in Clinical Practice Volume 2.1996;1902.
  • Parman Y.G. Ailevi Basınca Duyarlılık Nöropatisi. Herediter Nöropatiler. Türkiye KlinikleriNöroloji Dergisi Nöromuskuler Hastalıklar Özel Sayısı. 2005;1;22: 36.
  • Bodur H. Herediter Kompresyon Nöropatisi. Elektrodiagnoz. 2003 ;173.
  • Meretoja P, Silander K, Kalimo H. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997 Dec;7(8):529-32.
  • Antonini G, Luchetti A, Mastrangelo M. Early-onset hereditary neuropathy with liability to pressure palsy. Neuropediatrics. 2007 Feb;38(1):50-4.
  • György I, Bíró A. Hereditary neuropathy with liability to pressure palsy in childhood. Ideggyogy Sz. 2008 Nov 30;61(11- 12):423-5.
  • Ichikawa K, Nezu A.Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. Brain Dev. 2005 Mar;27(2):152-4.
  • Kim SM, Chung KW, Choi BO. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. Exp Mol Med. 2004 Feb 29;36(1):28-35.
  • Grossman MJ, Feinberg J. Hereditary neuropathy with liability to pressure palsies: case report and discussion. HSS J. 2007 Sep;3(2):208-12.
  • Gjerde IO, Aarskog N.Hereditary neuropathy with pressure palsies. Tidsskr Nor Laegeforen. 2001 Feb 10;121(4):426-8.
Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Semra Bilge Bu kişi benim

Ülgen Kökeş Bu kişi benim

Meral Çınar Bu kişi benim

Tuğba Eyiipgil Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 16 Sayı: 2

Kaynak Göster

APA Bilge, S., Kökeş, Ü., Çınar, M., Eyiipgil, T. (2009). Herediter Basınca Duyarlı Nöropati Olgusu. Journal of Turgut Ozal Medical Center, 16(2), 105-108.
AMA Bilge S, Kökeş Ü, Çınar M, Eyiipgil T. Herediter Basınca Duyarlı Nöropati Olgusu. Turgut Özal Tıp Merk Derg. Nisan 2009;16(2):105-108.
Chicago Bilge, Semra, Ülgen Kökeş, Meral Çınar, ve Tuğba Eyiipgil. “Herediter Basınca Duyarlı Nöropati Olgusu”. Journal of Turgut Ozal Medical Center 16, sy. 2 (Nisan 2009): 105-8.
EndNote Bilge S, Kökeş Ü, Çınar M, Eyiipgil T (01 Nisan 2009) Herediter Basınca Duyarlı Nöropati Olgusu. Journal of Turgut Ozal Medical Center 16 2 105–108.
IEEE S. Bilge, Ü. Kökeş, M. Çınar, ve T. Eyiipgil, “Herediter Basınca Duyarlı Nöropati Olgusu”, Turgut Özal Tıp Merk Derg, c. 16, sy. 2, ss. 105–108, 2009.
ISNAD Bilge, Semra vd. “Herediter Basınca Duyarlı Nöropati Olgusu”. Journal of Turgut Ozal Medical Center 16/2 (Nisan 2009), 105-108.
JAMA Bilge S, Kökeş Ü, Çınar M, Eyiipgil T. Herediter Basınca Duyarlı Nöropati Olgusu. Turgut Özal Tıp Merk Derg. 2009;16:105–108.
MLA Bilge, Semra vd. “Herediter Basınca Duyarlı Nöropati Olgusu”. Journal of Turgut Ozal Medical Center, c. 16, sy. 2, 2009, ss. 105-8.
Vancouver Bilge S, Kökeş Ü, Çınar M, Eyiipgil T. Herediter Basınca Duyarlı Nöropati Olgusu. Turgut Özal Tıp Merk Derg. 2009;16(2):105-8.