Analysis of clinical phenotype and genetic mutation on one case of hereditary neuropathy with liability to pressure palsies presenting brachial plexus injury as the first manifestation
LIU Qing
CHEN Hai
LEI Lin
ZHU Wen-jia
DI Li
LU Yan
WANG Min
WANG Suo-bin
DA Yu-wei
Abstract：Objective To summarize the features of clinical phenotype and genetic mutation of hereditary neuropathy with liability to pressure palsies (HNPP) presenting brachial plexus injury as the first manifestation.Methods and Results A 46-year-old male patient showed acute onset.He mainly suffered from left shoulder discomfort with left upper limb weakness for 2 months.The results of laboratory and imaging examination were normal,and neuroelectrophysiology showed peripheral nerve injury of limbs,mainly the upper trunk injury of left brachial plexus.Gene detection showed loss of heterozygosity of PMP22 gene,therefore the patient was clearly diagnosed as HNPP.He was treated by improving circulation and nutrition support,and the left upper extremity muscle strength was recovered to normal after 2 months of follow-up.Conclusions HNPP with brachial plexus injury as the first manifestation is rare,and should be differentiated from hereditary neuralgic amyotrophy (HNA) and inflammatory demyelinating polyradiculoneuropathy (IDP).
Keywords：Hereditary motor and sensory neuropathiesGenetic predisposition to diseaseBrachial plexusMyelin proteinsGenesMutationElectromyography
Publication Date：2018-02-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 123-127 )