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 quickMultiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.

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Amaç & Hipotez: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.

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Temel Bulgular & Veri: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.

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Sonuç & Katkı: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.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

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.

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Bu Makaleye Atıf Yap

KANMAZ, S., ŞİMŞEK, E., SERİN, H. M., ERDOĞAN, M. K., YILMAZ, S., AKTAN, G., TEKGÜL, H., GÖKBEN, S. (2019). Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test. The Journal of Pediatric Research, Cilt: 6 - Sayı: 2, 163–165. https://ajindex.com/articles/362903

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Kaynakça (7)

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Jo HY, Park MH, Woo HM, et al. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP. Clin Genet 2016;90:177-81
Beydoun SR, Cho J. Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. J Clin Neuromuscul Dis 2013;15:28-33.