Hereditary Neuropathy with Liability to Pressure Palsy: A case diagnosed with a quick MLPA test

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The Journal of Pediatric Research

Hereditary Neuropathy with Liability to Pressure Palsy: A case diagnosed with a quick MLPA test []

. 2019; 6(2): 0-0

Hereditary Neuropathy with Liability to Pressure Palsy: A case diagnosed with a quick MLPA test

Seda Kanmaz¹, Erdem Şimşek¹, Hepsen Mine Serin¹, Murat Kadri Erdoğan², Sanem Yılmaz¹, Gül Aktan¹, Hasan Tekgül¹, Sarenur Gökben¹
¹Department Of Pediatrics, Division Of Child Neurology, Ege University Medical Faculty, Izmir, Turkey
²Department of Medical Genetics, T.C. Ministry of Health Tepecik Education and Research Hospital, Izmir, Turkey

Hereditary neuropathy with liability to pressure palsies (HNPP) characterized by repeated focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification (MLPA) test showed PMP 22 deletion.

Keywords: Hereditary neuropathy, Pressure neuropathy, Multiplex Ligation-dependent Probe Amplification

Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben. Hereditary Neuropathy with Liability to Pressure Palsy: A case diagnosed with a quick MLPA test. . 2019; 6(2): 0-0

Corresponding Author: Seda Kanmaz, Türkiye

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