title: 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.
authors.affiliation: Department of Neurology, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands. m.biegstraaten@amc.uva.nl
authors.forename: Marieke
authors.initials: M
authors.lastname: Biegstraaten
authors.forename: Ivo N
authors.initials: IN
authors.lastname: van Schaik
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Wouter
authors.initials: W
authors.lastname: Wieling
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
mesh_terms: D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000209:etiology / Q000503:physiopathology; D001833:Body Temperature Regulation / Q000502:physiology*; D000795:Fabry Disease / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000150:complications; D008297:Male; D009431:Neural Conduction / Q000502:physiology; D013697:Thermosensing / Q000502:physiology