Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
oleh: Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben
| Format: | Article |
|---|---|
| Diterbitkan: | Galenos Yayinevi 2019-06-01 |
Deskripsi
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.