Poikilothermia in a 38-year-old Fabry patient

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....

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Autores principales: Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093548/
https://www.ncbi.nlm.nih.gov/pubmed/21161319
http://dx.doi.org/10.1007/s10286-010-0101-7
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author Biegstraaten, Marieke
van Schaik, Ivo N.
Hollak, Carla E. M.
Wieling, Wouter
Linthorst, Gabor E.
author_facet Biegstraaten, Marieke
van Schaik, Ivo N.
Hollak, Carla E. M.
Wieling, Wouter
Linthorst, Gabor E.
author_sort Biegstraaten, Marieke
collection PubMed
description 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.
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spelling pubmed-30935482011-06-07 Poikilothermia in a 38-year-old Fabry patient Biegstraaten, Marieke van Schaik, Ivo N. Hollak, Carla E. M. Wieling, Wouter Linthorst, Gabor E. Clin Auton Res Case Report 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. Springer-Verlag 2010-12-15 2011 /pmc/articles/PMC3093548/ /pubmed/21161319 http://dx.doi.org/10.1007/s10286-010-0101-7 Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Case Report
Biegstraaten, Marieke
van Schaik, Ivo N.
Hollak, Carla E. M.
Wieling, Wouter
Linthorst, Gabor E.
Poikilothermia in a 38-year-old Fabry patient
title Poikilothermia in a 38-year-old Fabry patient
title_full Poikilothermia in a 38-year-old Fabry patient
title_fullStr Poikilothermia in a 38-year-old Fabry patient
title_full_unstemmed Poikilothermia in a 38-year-old Fabry patient
title_short Poikilothermia in a 38-year-old Fabry patient
title_sort poikilothermia in a 38-year-old fabry patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093548/
https://www.ncbi.nlm.nih.gov/pubmed/21161319
http://dx.doi.org/10.1007/s10286-010-0101-7
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AT wielingwouter poikilothermiaina38yearoldfabrypatient
AT linthorstgabore poikilothermiaina38yearoldfabrypatient

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