Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report

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RATIONALE: Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal dominant genetic disorder characterized by recurrent, brief, and painless nerve paralysis after mild compression. Common peroneal nerve, ulnar nerve, and median nerve are most often involved, but cranial nerve involvement is rare. However, we found a case of HNPP with recurrent facial paralysis as main clinical manifestation. PATIENT CONCERNS: A 31-year-old male experienced 3 episodes of left peripheral facial paralysis over the past 4 years. After hospitalization, we found that the patient had weakened tendon reflex of the limbs and talipes cavus, which highly suggests chronic peripheral neuropathy. DIAGNOSES: The electromyography examination was performed. Motor nerve conduction detection found conduction block of the right common peroneal nerve at the fibular head; sensory nerve conduction detection showed a general slowdown in sensory nerve conduction velocity. The gene sequencing results showed that the patient carries heterozygous deletion of PMP22 gene (exon 1-5 deletion). Therefore, the final diagnosis was HNPP. INTERVENTIONS: The patient was treated with oral prednisone and B vitamins. OUTCOMES: The patient was given 20 mg of prednisone once a day for 1 week, and then reduced by 5 mg every 3 days until discontinuation, supplemented with B vitamins. The patient gradually improved and fully recovered to normal after 40 days. LESSONS: Facial nerve paralysis is an atypical clinical presentation of HNPP. This is the first report of HNPP in a Han Chinese population with recurrent facial nerve paralysis as the main symptom. This case has further enriched the clinical spectrum of HNPP, which is worthy of reference for neurologists.