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

摘要

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 PM P22 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).