A Case of Charcot-Marie-Tooth Disease type 1A with Guillain-Barre Syndrome

ABSTRACT

Charcot-Marie-Tooth disease (CMTD) is a hereditary neuropathy with slow progression, whereas Guillain-Barre syndrome is an acute acquired neuropathy of immunopathogenesis. A 17 year-old girl with hammertoes and pes cavus developed an acute quadriparesis. The duplication of PMP-22 exons in 17p12-p11.2 was confirmed by genetic study. After Intravenous ingection of immunoglobulin, she recovered to normal activity within one month with improvement of nerve conduction study. We should be concerned with the possibility of Guillain-Barre syndrome if there is rapidly progressive exacerbation on CMTD.