Abstract
<title>Abstract</title> <p>Objective Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) in childhood presents with diverse clinical manifestations. Early recognition and accurate diagnosis are critical for prognostic assessment and for providing appropriate guidance on life management. Methods We conducted a retrospective single-center cohort study of 14 pediatric HNPP patients admitted to Beijing Children’s Hospital from January 2018 to June 2026. Clinical presentations and electrophysiological findings were analyzed retrospectively. Results Among the 14 patients, 6 cases were male and 8 cases were female. The age at onset ranged from 6 to 12 years, with 71.4% presenting within the first decades of life. The majority presented with unilateral lower extremity weakness and numbness, most commonly peroneal nerve palsy. Nerve conduction studies revealed sensori-motor demyelinating polyneuropathy, with conduction abnormalities in some patients. Moreover, early neurophysiological examinations may reveal abnormalities that were not specific to uniform demyelinating polyneuropathy. Conclusion The clinical spectrum of HNPP in childhood is heterogeneous, and electrophysiological findings are valuable in supporting the diagnosis. Genetic testing should be considered when HNPP is clinically suspected, even if nerve conduction study findings are atypical. Early diagnosis is essential to reduce unnecessary examinations and to facilitate timely prevention education.</p>