title: [Fabry's disease and hypoparathyroidism].
abstract: BACKGROUND
  Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs.
  
  
  METHODS
  A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel. For many years, he suffered from paroxysmal pain in the hands and feet. From childhood, he had complained of diffuse abdominal pain, associated with diarrhea. Ophthalmological slit lamp fundus examination showed corneal telangiectasia and cornea verticella. There was no kidney or heart involvement. The diagnosis of Fabry's disease was confirmed by very low levels of alpha-galactosidase.
  
  
  CONCLUSIONS
  We did not find any other association of hypoparathyroidism and Fabry's disease in the literature. Hypoparathyroidism is not a manifestation of Fabry's disease. Idiopathic hypoparathyroidism is very rare and a genetic origin is known. This disease can be recessive X-linked. A co-transmission of idiopathic hypoparathyroidism and Fabry's disease is probable in our patient.
authors.affiliation: Service de Dermatologie, 42055 Saint-Etienne Cedex, France. laurent.misery@chu-brest.fr
authors.forename: Laurent
authors.initials: L
authors.lastname: Misery
authors.forename: Madeleine
authors.initials: M
authors.lastname: Gregoire
authors.forename: Fabienne
authors.initials: F
authors.lastname: Prieur
authors.forename: Régis
authors.initials: R
authors.lastname: Froissart
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guffon
authors.forename: Séverine
authors.initials: S
authors.lastname: Maitre
authors.forename: Laurent
authors.initials: L
authors.lastname: Fond
authors.forename: Laurence
authors.initials: L
authors.lastname: Denis
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Perrot
authors.forename: Frédéric
authors.initials: F
authors.lastname: Cambazard
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D003316:Corneal Diseases / Q000209:etiology; D003967:Diarrhea / Q000209:etiology; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000209:etiology*; D008297:Male; D013684:Telangiectasis / Q000209:etiology; D014960:X Chromosome / Q000235:genetics*