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Dergiler / The Journal of Pediatric Research / 2019 / Cilt: 6 - Sayı: 2

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

Seda KANMAZ,Erdem ŞİMŞEK,Hepsen Mine SERİN,Murat Kadri ERDOĞAN,Sanem YILMAZ,Gül AKTAN,Hasan TEKGÜL,Sarenur GÖKBEN

Sayfa
163–165
DOI
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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 quickMultiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.