HEREDİTER BASINCA DUYARLI NÖROPATİLİ OLGU SUNUMU

Yıl 2016, Cilt: 20 Sayı: 3, 101 - 104, 01.09.2016

Aslı Subaşıoğlu Tülay Kurt İncesu

Öz

Giriş: Herediter basınca duyarlı nöropati HBDN minör bir travma veya bası sonrası ortaya çıkan akut ve tekrarlayıcı duyusal ve motor disfonksiyon ile seyreden mononöropati atakları ile karakterize otozomal dominant geçişli ailevi bir hastalıktır. Bazı hastalarda karpal tünel sendromu, düşük ayak ile seyredebilen peroneal palsi, ayrıca periferal nöropati gözlenebilmektedir

Anahtar Kelimeler

Herediter Basınca Duyarlı Nöropati, Herediter Nöropati, Periferal Miyelin Protein 22

A CASE REPORT OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Öz

Introduction: Hereditary neuropathy with liability to pressure palsies HNPP is an autosomal dominant disorder characterized by recurrent sensory or motor dysfunction and usually affects areas where nerves are liable to entrapment often following minor trauma or compression. Some affected individuals also have signs of carpal tunnel syndrome, peroneal palsy with foot drop and a mild to moderate peripheral neuropathy

Anahtar Kelimeler

Hereditary Neuropathy with Liability to Pressure Palsy, Hereditary Neuropathy

Kaynakça

• Luigetti M, Del Grande A, Conte A, Lo Monaco M, Bisogni G, Romano A, et al. Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience. J Neurol Sci 2014;341(1-2): 46-50.
• Dağ E, İnal E, Türkel Y, Gökçe N, Orkun S. Hereditary Nerve Palsy of Pressure. Liability J Clin Anal Med 2013;4(suppl 1): 10-2.
• Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999; 52(7):1440–6.
• Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM, et al. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 1995; 45(11): 2018-23.
• Lenssen PP, Gabreels-Festen AA, Valentijn LJ, Jongen PJ, Van Beersum SE, Van Engelen BG, et al. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frameshift mutation. Brain 1998; 121(8):1451-8.
• Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord 1997;7(8):529-32.
• Van Paassen BW, Van der Kooi AJ, Van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis 2014; 9:38. 104
• İzmir Eğitim ve Araştırma Hastanesi Tıp Dergisi (Medical Journal of İzmir Hospital)