Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade

Bayrak A. O., BATTALOĞLU E., Türker H., Baris I., Oztas G.

BRAIN & DEVELOPMENT, cilt.31, sa.6, ss.445-448, 2009 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 6
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.braindev.2008.07.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.445-448
  • Anahtar Kelimeler: Hereditary neuropathy with liability to pressure palsy, Childhood, Electrophysiology, 17P11.2 DELETION, FEATURES, DUPLICATION
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies secondary to minor trauma or compression. Whilst typical episodes of palsy generally become apparent during the second and the third decades, HNPP is rarely diagnosed in the first decade. We present the case of a 6-year-old patient to draw attention to the possibility of HNPP attacks in the first decade and the importance of detailed electrophysiological examination. (C) 2008 Elsevier B.V. All rights reserved.