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Rev Neurol (Paris). 2017 Dec;173(10):650-657. doi: 10.1016/j.neurol.2017.05.007. Epub 2017 Jun 1.

Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.

Author information

1
Centre de référence des maladies neuromusculaires et de la SLA, CHU La Timone, AP-HM, 13005 Marseille, France; Hopital privé La Casamance, 13400 Aubagne, France; Service de médecine interne, hôpital européen, 6, rue Desiree-Clary, 13003 Marseille, France.
2
Centre de référence des maladies neuromusculaires et de la SLA, CHU La Timone, AP-HM, 13005 Marseille, France.
3
Service de néphrologie, CHU La Timone, AP-HM, 13005 Marseille, France.
4
Service de médecine interne, hôpital européen, 6, rue Desiree-Clary, 13003 Marseille, France.
5
Service de médecine interne, CHU La Timone, AP-HM, 13005 Marseille, France.
6
Service des maladies héréditaires du métabolisme et dépistage néonatal, centre de biologie et pathologie Est, CHU de Lyon-GH Est, hospices civils, 69677 Bron, France.
7
Service de médecine interne, hôpital européen, 6, rue Desiree-Clary, 13003 Marseille, France. Electronic address: l.chiche@hopital-europeen.fr.

Abstract

BACKGROUND:

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.

KEYWORDS:

Acrosyndrome; Hypohydrose; Maladie de Fabry; Neuropathie; Neuropathie des petites fibres

PMID:
28579207
DOI:
10.1016/j.neurol.2017.05.007
[Indexed for MEDLINE]

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