title: [Infantile cystinosis. A new Tunisian case].
abstract: A case of cystinosis in a three and a half-year-old is reported. Suggestive manifestations included severe rickets, small stature, and complex renal tubule dysfunction meeting the criteria for secondary Fanconi syndrome. Diagnosis was established by the discovery of retinal lesions upon ophtalmologic evaluation and, above all, by the finding that intracellular leukocyte cystine levels were increased to 16 mumol of 1/2 cystine per gram protein. Cystinosis is severe because it inevitably leads to renal failure. Much hope is currently placed in the use of cysteamine to delay this and other complications. At present, early antenatal diagnosis during the first ten weeks of pregnancy is needed in high-risk families to allow elective termination of pregnancy within the legal time limit.
authors.affiliation: Service de Pédiatrie, CHU de Monastir, Tunisie.
authors.forename: H
authors.initials: H
authors.lastname: Pousse
authors.forename: A
authors.initials: A
authors.lastname: Besbes
authors.forename: M N
authors.initials: MN
authors.lastname: Slimane
authors.forename: M
authors.initials: M
authors.lastname: Hammami
authors.forename: A
authors.initials: A
authors.lastname: Ayadi
authors.forename: M T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D002675:Child, Preschool; D003543:Cysteamine / Q000627:therapeutic use; D003553:Cystine / Q000737:chemistry; D003554:Cystinosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D009887:Ophthalmoscopy; D011859:Radiography
chemical_list: D003553:Cystine; D003543:Cysteamine
vernacular_title: Cystinose infantile. Une nouvelle observation tunisienne.