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. , ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.6, ss.163-165, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 6 Konu: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/jpr.galenos.2018.60590
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayıları: ss.163-165

Özet

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.