Ontology highlight
ABSTRACT:
SUBMITTER: Biegstraaten M
PROVIDER: S-EPMC3093548 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Clinical autonomic research : official journal of the Clinical Autonomic Research Society 20101215 3
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 ther ...[more]