Clinical autonomic research : official journal of the Clinical Autonomic Research Society, Volume 21, Issue 3, 15 3 2010, Pages 177-179 Poikilothermia in a 38-year-old Fabry patient. Biegstraaten M, van Schaik IN, Hollak CE, Wieling W, Linthorst GE
A Fabry patient with poikilothermia is described. Laboratory investigations, neuro-imaging and autonomic function tests did not disclose a cause. Assessment of intra-epidermal nerve fibre density and quantitative sensory testing revealed small fibre neuropathy with a highly impaired cold sensation. We speculate that the poikilothermia is either caused by a vascular lesion in the hypothalamus not visible on MRI or by small fibre neuropathy leading to disturbed body temperature perception and therefore impaired thermoregulation.
