Recurrent facial palsy in HNPP

T. E. Poloni, F. Simonetti, F. Imbesi, E. Alfonsi, I. M. Merlo, S. Botti, F. Taroni, M. Ceroni

Research output: Contribution to journalArticlepeer-review


Hereditary neuropathy with liability to pressure palsies (HNPP) is a frequent and underdiagnosed neuropathy due to a macrodeletion in the peripheral mielin protein gene-22 (PMP 22). Involvement of cranial nerves in HNPP has been recently excluded even if previous descriptions reported facial and trigeminal involvement. Recurrent facial palsy has never been reported as an onset symptom. A 20-year-old man arrived to our attention because of a 2-month history of left foot-drop. Previously he had experienced a transient weakness of the extention of his right hand. Wien he was sixteen he suffered from a right facial palsy and after few months he experienopd a second facial palsy on the left side Neurological examination disclosed a left peroneal deficit and bilateral hypopallestesia. EMG revealed a diffuse slowing of conduction velocities, especially across entrapment sites. R1 and R2 latencies of blink reflex were prolonged bilaterally. The deletion of the PMP 22 gene (17pH ,2-12 segment) was found in our patient. His father had occasionally experienced only a transient weakness and numbness in the ulnar territory bilaterally. His 16-year old brother was asymptomatic. They both have the PMP 22 gene deletion and pathologic EMG findings. The mother and the two sisters are not affected at clinical, genetic and EMG testing. We report a HNPP family in which the proband has had a recurrent facial palsy as first clinical manifestation. We want to underline that cranial nerves, specially facial nerve, may be involved in HNPP.

Original languageEnglish
Pages (from-to)113
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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