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Journals / 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
Pages
163–165
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis: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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Key Findings & Data: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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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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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Cite This Article

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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References (7)

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