Fabry disease Impaired autonomic function

摘要: Previous reports of extensive lipid accumulation within neurons the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for peculiar pain, diminished sweating, and gastrointestinal symptoms experienced this disorder. To further assess function disease, noninvasive clinical tests were performed on 10 patients. Diminished sweating was found each; loss approximately uniform proximally distally, suggesting sweat gland dysfunction rather than neuropathy. Impaired pupillary constriction with pilocarpine, reduced saliva tear formation half Disordered intestinal mobility demonstrated oldest In all cases, cutaneous flare response to scratch intradermal histamine diminished, pruritus not experienced. Signs are present correlate known deposition neurons.