A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease

F Barbieri; R Santangelo; C Crisci; M Ragno; A Perretti; L Santoro

doi:10.1016/0303-8467(90)90037-6

A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease

Clin Neurol Neurosurg. 1990;92(3):289-94. doi: 10.1016/0303-8467(90)90037-6.

Authors

F Barbieri¹, R Santangelo, C Crisci, M Ragno, A Perretti, L Santoro

Affiliation

¹ Department of Neurology, Second School of Medicine, University of Naples, Italy.

PMID: 2171842
DOI: 10.1016/0303-8467(90)90037-6

Abstract

The appearance of Guillain-Barré syndrome in a 9-year-old girl led to the detection of a hereditary neuropathy in her family. This neuropathy showed clinical and electrophysiological characteristics of Charcot-Marie-Tooth disease. Only nerve biopsy performed in a sister of the proband allowed diagnosis of tomaculous neuropathy which presented unusual clinical, electrophysiological and bioptic aspects.

Publication types

Case Reports

MeSH terms

Biopsy
Charcot-Marie-Tooth Disease / diagnosis*
Child
Diagnosis, Differential
Electromyography
Female
Hereditary Sensory and Motor Neuropathy / complications
Hereditary Sensory and Motor Neuropathy / diagnosis*
Hereditary Sensory and Motor Neuropathy / physiopathology
Humans
Myelin Sheath / pathology
Neural Conduction
Pedigree
Polyradiculoneuropathy / complications