Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test


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Kanmaz S. , Şimşek E. , Serin H. M. , Erdoğan M. K. , Keskin Yılmaz S. , Aktan G. , ...More

JOURNAL OF PEDIATRIC RESEARCH, vol.6, no.2, pp.163-165, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.4274/jpr.galenos.2018.60590
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.163-165

Abstract

Hereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.