Merhaba Misafir

Hereditary neuropathy with liability to pressure palsy: A case diagnosed with a quick multiplex ligation-dependent probe amplification test


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.

Yayınlandığı Kaynak : The Journal of Pediatric Research