[Childhood acromelalgia a propos of a case revealing Fabry's disease].
The occurrence of an acrosyndrome (Raynaud's phenomenon, erythermalgia, acrodynia...) in childhood may be the first manifestation of a general disease. Though it can be an early onset Raynaud's disease, it could also be the first sign of a connective tissue disease (juvenile polyarthritis, mixed connectivitis...) or of a overload disorder. We report a case of childhood-onset acromelalgia leading to the discovery of Fabry's disease. This chromosome X-linked hereditary disorder, resulting in the ubiquitous accumulation of neutral sphingolipids, is usually rapidly suspected by the finding of "boxer-short" angiokeratoma. Diagnosis is confirmed by the ophthalmic examination (cornea verticillata), by the pathological examination of a skin sample, and by the measure of alpha-galactosidase A activity. Treatment is usually only symptomatic, but the discovery of the mutations responsible for the disease could open the way to specific therapy.
Cailleux
N
N
Service de Médecine Interne-Angiologie, Hôpital de Boisguillaume, CHU de Rouen.
Levesque
H
H
Joly
P
P
Thomine
E
E
Courtois
H
H
D000328:Adult; D017668:Age of Onset; D002648:Child; D004916:Erythromelalgia / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male
Acromélalgies de l'enfant a propos d'une observation révélatrice de maladie de Fabry.