[Hereditary neuropathy with pressure palsies].

BACKGROUND

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant polyneuropathy usually caused by a deletion in the gene coding for the peripheral nerve myelin protein 22 (PMP22). The patients usually get relapsing and remitting focal nerve symptoms due to mechanical factors like pressure or minor trauma that normal nerves tolerate.

MATERIAL AND METHODS

Two patients from different families have been examined clinically, neurophysiologically and genetically by Southern blot and PCR techniques.

RESULTS

The clinical and neurophysiological findings were typical of this disorder, and the DNA tests showed deletions in the PMP22 gene.

INTERPRETATION

We discuss clinical, neurophysiological and molecular diagnostics, pathomechanisms, treatment and secondary prevention. Early diagnosis may be important for optimal management of the patients.