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Department of Biochemistry and Clinical Unit of the Eunice Kennedy Shriver Center for Mental Retardation, Inc., at the W. E. Fernald State School, Waltham, MA, and the Department of Neurology, Massachusetts General Hospital (Drs. Cable, Kolodny, and Adams) and Harvard Medical School (Drs. Kolodny and Adams), Boston, MA.
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.
Address correspondence and reprint requests to Dr. Cable, Eunice Kennedy Shriver Center, 200 Trapelo Road, Waltham, MA 02154.
This investigation was supported in part by NIH grants Nos. HD05515, HD04147, and HD07164.
Presented in part at the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA, May 1980.
Accepted for publication September 29, 1981.
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