Article

Peripheral nerve system (PNS) involvement is common in Fabry's
disease (FD), predominantly affecting the small nerve fibers that are difficult
to investigate with conventional electrophysiological methods. PATIENTS AND
METHODS: Eighteen patients followed for Fabry's disease underwent a prospective
series of electroneurophysiological explorations, including a study of the
cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin
conductance (ESC) tests. Data were compared with those obtained in 18 matched
healthy controls. RESULTS: All patients had at least one clinical sign suggestive
of neuropathy: 16 reported an acrosyndrome and 12 had dyshidrosis. Cold
hypoesthesia was found in 15 patients and heat hypoesthesia in 13.
Electroneurophysiological investigations and study of the cardiac parasympathetic
ANS were normal in all patients. The ESC was significantly lower in FD patients
compared with controls. CONCLUSION: PNS involvement is common in FD and should be
suspected in patients exhibiting an acrosyndrome, dyshidrosis and/or cold
hypoesthesia. Conventional electrophysiological investigations are normal. New
techniques, such as ESC, provide early diagnosis of small fiber involvement that
currently requires more sophisticated tests difficult to apply in routine practice.
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- Angiokératose

Langue : ANGLAIS