RESUMO
RATIONALE: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited genetic disease characterized by recurrent numbness and limb weakness. HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date, diagnosis of HNPP remains a challenge for clinicians. PATIENT CONCERNS: Here, we report the case of a 12-year-old woman diagnosed with HNPP, which was initially diagnosed with Guillain-Barré Syndrome (GBS) and treated with intravenous immunoglobulin (IVIG). DIAGNOSES: Repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP. INTERVENTIONS: The patient was treated with neurotrophic drugs and health education, including avoiding maintenance of a certain posture for extended periods, which could damage the peripheral nerves. OUTCOMES: The patient was discharged 5 days later. The patient was free from recurrence after 6 months of follow-up. LESSONS: This case highlights the complexity of HNPP diagnosis and emphasizes the importance of early identification.