A case report of hereditary neuropathy with liability to pressure palsies initiating as posterior interosseous nerve damage
- VernacularTitle:以后骨间神经损害为首发症状的遗传性压力易感性周围神经病1例报告
- Author:
Lili GONG
1
;
Zhumei WANG
1
Author Information
- Publication Type:Journal Article
- Keywords: Hereditary neuropathy with liability to pressure palsies; Nerve electrophysiology; The PMP22 gene; Degeneration of axons
- From: Journal of Apoplexy and Nervous Diseases 2023;40(7):655-658
- CountryChina
- Language:Chinese
- Abstract: Objective To describe the neuroelectrophysiological findings and genetic alteration of a patient with hereditary neuropathy with liability to pressure palsies (HNPP) who first presented with posterior interosseous nerve damage,and to improve clinicians'understanding of this disease. Methods We analyzed the clinical data of the patient and his families,and conducted a literature review on this disease. Results The 15-year-old male patient presented to the clinic complaining of weakness in the right forearm and inability to lift his fingers for more than one month. Electrophysiological examination demonstrated multiple peripheral nerve damage. Gene testing revealed large-fragment loss of heterozygosity in the exon region of the PMP22 gene. Conclusion HNPP is clinically heterogeneous,which should be considered when mild pressure can trigger nerve paralysis and electrophysiology indicates multiple peripheral nerve damage. Early diagnosis and symptomatic treatment can improve the quality of life and prognosis of the patients.
- Full text:2024061614262014687以后骨间神经损害为首发症状的遗传性压力易感性周围神经病1例报告.pdf
