Abstract
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
Original language | English |
---|---|
Pages (from-to) | 177-179 |
Journal | CLINICAL AUTONOMIC RESEARCH |
Volume | 21 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2011 |