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Journals / İnönü Üniversitesi Tıp Fakültesi Dergisi / 2009 / Cilt: 16 - Sayı: 2

A case with Hereditary nerve palsy of pressure liability

Herediter basınca duyarlı nöropati olgusu

Semra BİLGE
Ülgen KÖKEŞ
T. KARAGÖL
Tuğba EYÜPĞİL
Meral ÇINAR
Pages
105–107
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Electromyography was compatible with HNPP. 17p 11-2-12 deletion was determined in DNA analysis which caused HNPP.However rarely seen in childhood, case was presented aim of having in mind HNPP in acute developed paralyzes

📌 3 Key Takeaways

🎯
Objective & Hypothesis:A 9-year-old male has been hospitalized due to walking difficulty and acute weakness developed on the left leg.
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Key Findings & Data:Loss of dorsiflexion on the left distal lower extremity was present in neurological examination who had not any specialty in physical examination.
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Conclusion & Impact:Electromyography was compatible with HNPP. 17p 11-2-12 deletion was determined in DNA analysis which caused HNPP.However rarely seen in childhood, case was presented aim of having in mind HNPP in acute developed paralyzes
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

A 9-year-old male has been hospitalized due to walking difficulty and acute weakness developed on the left leg. Loss of dorsiflexion on the left distal lower extremity was present in neurological examination who had not any specialty in physical examination. Electromyography was compatible with HNPP. 17p 11-2-12 deletion was determined in DNA analysis which caused HNPP.However rarely seen in childhood, case was presented aim of having in mind HNPP in acute developed paralyzes

Özet

Dokuz yaşında erkek, sol ayağında ani gelişen kuvvet azlığı ve yürüme güçlüğü ile değerlendirildi. Fizik muayenesinde özellik olmayan olgunun, nörolojik muayenesinde sol alt ekstremite distalinde dorsifleksiyon zaafı vardı. Elektromiyografi incelemesi, basınca duyarlı herediter nöropati’yi düşündürdü. DNA analizi, basınca duyarlı herediter nöropati’ye sebep olan, 17p 11.2-12 delesyonunu gösterdi.Olgu, çocuklarda nadir görülmekle birlikte basınca duyarlı herediter nöropati’nin, akut gelişen paralizilerde akılda tutulmasının vurgulanması amacıyla sunulmuştur.

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Cite This Article

BİLGE, S., KÖKEŞ, Ü., KARAGÖL, T., EYÜPĞİL, T., ÇINAR, M. (2022). A case with Hereditary nerve palsy of pressure liability. İnönü Üniversitesi Tıp Fakültesi Dergisi, Cilt: 16 - Sayı: 2, 105–107. https://ajindex.com/articles/548560

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