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Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu

Yıl 2007, Cilt: 8 Sayı: 2, 65 - 68, 01.08.2007

Öz

Kaynakça

  • İchikawa K, Nezu A, Hereditary neuropathy with liability to pressure palsies in childhood. Brain and Development 27(2005)152-154.
  • Horowitz SH, Spollen LE, Yu W, Hereditary neuropathy with liability to pressure palsy. J Neurol. Neurosurg Psychiatry 2004;75;1629-1631.
  • Lönnqvist T, Pihko H. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe walking, pain and stiffness. Neuromuskuler Disorders 13(2003) 827-829
  • Koç F, Güzel R, Benlidayı C, Yerdelen D. A rare genetic disorder in the differential diagnosis of the entrapment neuropathies. Journal of Clinical Rheumatology 2006:12(2);78-82.
  • Chua Y, Lim YW, Lam KS, Low C0. Hereditary neuropathy with liability to pressure palsies. Singapore Med J 2006;47(7):625.
  • Shy M, Scavina M, Clark A, Krajewski K, Li J, et al. T1118 M PMP 22 Mutation Causes Partial Loss of Function and HNPP–like Neuropathy. Ann Neurol 2006;59:358-364.
  • Koike H, Hirayama M, Yamamoto M, to H, Hattori N, et al. Age associated axonal features in HNPP with 17p11.2 deletion in Japan. J Neurol Neurosurg Psychiatry 2005;76;1109-1114.
  • Hong YH, Kim HJ, Sung JJ, Kim SH, Lee KW. Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion. Acta Neurol Scand 2003:108:352-358.
  • Glass H, Srour M, Pari G, Progressive Limb Weakness and Sensory Loss in Young Woman. MJM 2000;5:85-89.
  • Kumar N, Cole J, Parry J. Variability of Presantation in Hereditary Neuropathy with Liability to Pressure Palsy Results in Underrecognition. Annals Newyork Academy of Sciences 2006; 344-349.
  • Horowitz SH, Spollen LE, Yu W. Hereditary neuropathy with liability to pressure palsy. J Neurol Neurosurg Psychiatry 2004;75:1629-1631.
  • Soysal A, Arpacı B, Altıntaş H, Clinical Electrophysiological, pathologic and genetic findings in a family with hereditary neuropathy with liability to pressure palsies. Journal of Neurological Sciences
  • Chang I. “Diagnosis of Peripheral Neuropathies”. http://www.thecni.org/reviews/13-2-p11- chang.htm/01.08.2007
  • Lİ j, Krajewski K, Lewis RA. Loss of function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle and Nerve 2004;29:205-210.
  • Giambonini G, Buchstaller J, Sommer L. Distinct disease mechanisms in peripheral neuropathies. Neurobiology of Disease 2005;18:656-668.
  • Goudier R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, et al. Clinical electrotrophysiologic and molecular correlations in 13 familieswith hereditary neuropathy with liability to pressure palsies and a chromosome 17 p.11.2 deletion. Neurology 1995; 45: 2018-2023.
  • Windebank AJ. Inherited recurrent focal neuropathies. In: Peripheral Neuropathy Third Edition, Eds, Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Philadelphia, W.B. Saunders Company, 1993, pp. 1137-1148.
  • Sander S, Ouvrier RA, Mcleod JG, Nicholson GA, PollardJD. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 2000;689:483-488.
  • Pareyson D, Solari A, Taroni F, Botti S, Fallica E, et al. Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. Muscle nerve 1998; 21: 1686-1691.

Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu

Yıl 2007, Cilt: 8 Sayı: 2, 65 - 68, 01.08.2007

Öz

Basınç felçleri ile beraber olan herediter nöropati (HNPP), heterojen bir fenotipe sahiptir. HNPP’de karekteristik olarak minör travmaları takiben ortaya çıkan tekrar eden mononöropatiler oluşur. Klinik bulguların bir kısmının Charcot-Marie-Tooth (CMT) hastalığıyla çakışması nedeniyle, HNPP hastaları yanlışlıkla CMT tanısı alabilir. HNPP ve CMT hastalıklarının her ikisinde de demyelinizan nöropati izlenmekle beraber, elektrofizyolojik ve patolojik bulguları oldukça farklıdır. Biz bu bildiride, dört ekstremiteyi etkileyen periferik nöropatisi olan ve CMT bulguları izlenen 22 yaşında bir HNPP olgusunu sunuyoruz

Kaynakça

  • İchikawa K, Nezu A, Hereditary neuropathy with liability to pressure palsies in childhood. Brain and Development 27(2005)152-154.
  • Horowitz SH, Spollen LE, Yu W, Hereditary neuropathy with liability to pressure palsy. J Neurol. Neurosurg Psychiatry 2004;75;1629-1631.
  • Lönnqvist T, Pihko H. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe walking, pain and stiffness. Neuromuskuler Disorders 13(2003) 827-829
  • Koç F, Güzel R, Benlidayı C, Yerdelen D. A rare genetic disorder in the differential diagnosis of the entrapment neuropathies. Journal of Clinical Rheumatology 2006:12(2);78-82.
  • Chua Y, Lim YW, Lam KS, Low C0. Hereditary neuropathy with liability to pressure palsies. Singapore Med J 2006;47(7):625.
  • Shy M, Scavina M, Clark A, Krajewski K, Li J, et al. T1118 M PMP 22 Mutation Causes Partial Loss of Function and HNPP–like Neuropathy. Ann Neurol 2006;59:358-364.
  • Koike H, Hirayama M, Yamamoto M, to H, Hattori N, et al. Age associated axonal features in HNPP with 17p11.2 deletion in Japan. J Neurol Neurosurg Psychiatry 2005;76;1109-1114.
  • Hong YH, Kim HJ, Sung JJ, Kim SH, Lee KW. Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion. Acta Neurol Scand 2003:108:352-358.
  • Glass H, Srour M, Pari G, Progressive Limb Weakness and Sensory Loss in Young Woman. MJM 2000;5:85-89.
  • Kumar N, Cole J, Parry J. Variability of Presantation in Hereditary Neuropathy with Liability to Pressure Palsy Results in Underrecognition. Annals Newyork Academy of Sciences 2006; 344-349.
  • Horowitz SH, Spollen LE, Yu W. Hereditary neuropathy with liability to pressure palsy. J Neurol Neurosurg Psychiatry 2004;75:1629-1631.
  • Soysal A, Arpacı B, Altıntaş H, Clinical Electrophysiological, pathologic and genetic findings in a family with hereditary neuropathy with liability to pressure palsies. Journal of Neurological Sciences
  • Chang I. “Diagnosis of Peripheral Neuropathies”. http://www.thecni.org/reviews/13-2-p11- chang.htm/01.08.2007
  • Lİ j, Krajewski K, Lewis RA. Loss of function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle and Nerve 2004;29:205-210.
  • Giambonini G, Buchstaller J, Sommer L. Distinct disease mechanisms in peripheral neuropathies. Neurobiology of Disease 2005;18:656-668.
  • Goudier R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, et al. Clinical electrotrophysiologic and molecular correlations in 13 familieswith hereditary neuropathy with liability to pressure palsies and a chromosome 17 p.11.2 deletion. Neurology 1995; 45: 2018-2023.
  • Windebank AJ. Inherited recurrent focal neuropathies. In: Peripheral Neuropathy Third Edition, Eds, Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Philadelphia, W.B. Saunders Company, 1993, pp. 1137-1148.
  • Sander S, Ouvrier RA, Mcleod JG, Nicholson GA, PollardJD. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 2000;689:483-488.
  • Pareyson D, Solari A, Taroni F, Botti S, Fallica E, et al. Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. Muscle nerve 1998; 21: 1686-1691.
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler-Araştırma Yazıları
Yazarlar

Tahir Kurtuluş Yoldaş Bu kişi benim

Hava Dönmez Keklikoğlu Bu kişi benim

Yıldız Çoruh Bu kişi benim

Hayriye Gül Polat Bu kişi benim

Ersin TAN Sayılar/mayıs Bu kişi benim

Ersin Tan Bu kişi benim

Yayımlanma Tarihi 1 Ağustos 2007
Yayımlandığı Sayı Yıl 2007 Cilt: 8 Sayı: 2

Kaynak Göster

APA Yoldaş, T. K., Keklikoğlu, H. D., Çoruh, Y., Polat, H. G., vd. (2007). Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu. Kocatepe Tıp Dergisi, 8(2), 65-68. https://doi.org/10.18229/ktd.96524
AMA Yoldaş TK, Keklikoğlu HD, Çoruh Y, Polat HG, Sayılar/mayıs ET, Tan E. Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu. KTD. Ağustos 2007;8(2):65-68. doi:10.18229/ktd.96524
Chicago Yoldaş, Tahir Kurtuluş, Hava Dönmez Keklikoğlu, Yıldız Çoruh, Hayriye Gül Polat, Ersin TAN Sayılar/mayıs, ve Ersin Tan. “Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu”. Kocatepe Tıp Dergisi 8, sy. 2 (Ağustos 2007): 65-68. https://doi.org/10.18229/ktd.96524.
EndNote Yoldaş TK, Keklikoğlu HD, Çoruh Y, Polat HG, Sayılar/mayıs ET, Tan E (01 Ağustos 2007) Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu. Kocatepe Tıp Dergisi 8 2 65–68.
IEEE T. K. Yoldaş, H. D. Keklikoğlu, Y. Çoruh, H. G. Polat, E. T. Sayılar/mayıs, ve E. Tan, “Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu”, KTD, c. 8, sy. 2, ss. 65–68, 2007, doi: 10.18229/ktd.96524.
ISNAD Yoldaş, Tahir Kurtuluş vd. “Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu”. Kocatepe Tıp Dergisi 8/2 (Ağustos 2007), 65-68. https://doi.org/10.18229/ktd.96524.
JAMA Yoldaş TK, Keklikoğlu HD, Çoruh Y, Polat HG, Sayılar/mayıs ET, Tan E. Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu. KTD. 2007;8:65–68.
MLA Yoldaş, Tahir Kurtuluş vd. “Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu”. Kocatepe Tıp Dergisi, c. 8, sy. 2, 2007, ss. 65-68, doi:10.18229/ktd.96524.
Vancouver Yoldaş TK, Keklikoğlu HD, Çoruh Y, Polat HG, Sayılar/mayıs ET, Tan E. Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu. KTD. 2007;8(2):65-8.

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