Poikilothermia in a 38-year-old Fabry patient.

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.

SUBMITTER: Biegstraaten M 

PROVIDER: S-EPMC3093548 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature