Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by acute, painless and recurrent mononeuropathies. Genetic testing shows PMP22 gene deletion of chromosome 17p11.2 can provide evidence for the diagnosis of HNPP. Reports on tibial neuropathy as the main manifestation of HNPP are very rare. We report a 14-year-old girl who was admitted to our hospital due to plantar foot numbness and plantar flexion weakness of her left foot. The patient had a history of lateral dorsal numbness and right foot drop when she was 3 years old. Clinical symptoms, and neurological examination demonstrated tibial neuropathy. Electromyography showed extensive peripheral nerve, including median nerve, ulnar nerve, tibial nerve and peroneal nerve, were involved. The diagnosis of HNPP was confirmed by genetic testing which disclosed a deletion of PMP22 gene. She was completely asymptomatic in one month after neurotrophic drug treatments.

Keywords

• Hereditary neuropathy with liability to pressure palsy
• PMP22
• Electromyography
• Genetic testing
• Case report