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

Tahir Kurtuluş Yoldaş Hava Dönmez Keklikoğlu Yıldız Çoruh Hayriye Gül Polat Ersin TAN Sayılar/mayıs Ersin Tan

https://izlik.org/JA86XY77UT

Öz

Anahtar Kelimeler

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

https://izlik.org/JA86XY77UT

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

Anahtar Kelimeler

HNPP , polinöropati , CMT

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.