RT Journal Article
SR Electronic
T1 Fabry disease
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 498
OP 498
DO 10.1212/WNL.32.5.498
VO 32
IS 5
A1 W.J.L. Cable
A1 E. H. Kolodny
A1 R. D. Adams
YR 1982
UL http://n.neurology.org/content/32/5/498.abstract
AB Previous reports of extensive lipid accumulation within neurons of the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for the peculiar pain, diminished sweating, and gastrointestinal symptoms experienced in this disorder. To further assess autonomic function in Fabry disease, noninvasive clinical tests were performed on 10 patients. Diminished sweating was found in each; the loss was approximately uniform proximally and distally, suggesting sweat gland dysfunction rather than autonomic neuropathy. Impaired pupillary constriction with pilocarpine, and reduced saliva and tear formation were found in half the patients. Disordered intestinal mobility was demonstrated in the oldest patients. In all cases, the cutaneous flare response to scratch and intradermal histamine was diminished, and pruritus was not experienced. Signs of autonomic dysfunction are present in Fabry disease and correlate with the known lipid deposition in autonomic neurons.