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

Journal Title: The Journal of Pediatric Research - Year 2019, Vol 6, Issue 2

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.

Authors and Affiliations

Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben

Keywords

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  • EP ID EP49055
  • DOI 10.4274/jpr.galenos.2018.60590
  • Views 273
  • Downloads 0

How To Cite

Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben (2019). Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test. The Journal of Pediatric Research, 6(2), -. https://europub.co.uk/articles/-A-49055