Semra Bilge, Ülgen Kökeş, Meral Çınar, Tuğba Eyiipgil

Herediter Basınca Duyarlı Nöropati Olgusu

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. Anahtar kelimeler: Basınca Duyarlı Herediter Nöropati (HNPP), Basınca Duyarlı Paralizi, DNA Analizi, EMG

Anahtar Kelimeler:

Basınca Duyarlı Herediter Nöropati (HNPP), Basınca Duyarlı Paralizi, DNA Analizi, EMG

A Case with Hereditary Nerve Palsy of Pressure Liability

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 Key words: HNPP, Pressure Liability Palsy, Analysis Of DNA, EMG

Keywords:

HNPP, Pressure Liability Palsy, Analysis Of DNA, EMG,

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