Differenzialdiagnose akraler Schmerzen: Junger Mann mit akralen Schmerzen, Fieberschüben und Hörverlust

Autor:	E Reinhold-Keller, R M Schäfer, G Horneff, P Young
Rok vydání:	2008
Předmět:	medicine.medical_specialty business.industry Hearing loss Disease medicine.disease Fabry's disease Dermatology Surgery Repeated treatment Rheumatology Neuropathic pain medicine Lysosomal storage disease Cornea verticillata medicine.symptom business Polyneuropathy
Zdroj:	Aktuelle Rheumatologie. 34:126-131
ISSN:	1438-9940 0341-051X
DOI:	10.1055/s-2008-1027710
Popis:	The course of disease of a young man with pain in the extremities, intermittent general symptoms (fever), and hearing loss in both ears is presented over 20 years. Repeated treatment with corticosteroids did not improve his condition. This case is discussed by an interdisciplinary board. The detection of whorl-like corneal opacities (”cornea verticillata”), a specific clinical marker, finally resulted in the diagnosis of Fabry’s disease; the diagnosis of this lysosomal storage disease was confirmed by a laboratory evaluation showing decreased alpha-galactosidase plasma levels.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::5407c7642d032899d786011ecaca9b59 https://doi.org/10.1055/s-2008-1027710 Zobrazit plný text záznamu