A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease.
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.
Barbieri
F
F
Department of Neurology, Second School of Medicine, University of Naples, Italy.
Santangelo
R
R
Crisci
C
C
Ragno
M
M
Perretti
A
A
Santoro
L
L
D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D009186:Myelin Sheath / Q000473:pathology; D009431:Neural Conduction; D010375:Pedigree; D011129:Polyradiculoneuropathy / Q000150:complications