title: [Ataxia telangiectasia. Clinical and biological study in 17 cases].
abstract: Seventeen cases of ataxia telangiectasia (AT) were diagnosed over a period of 10 years. The children affected by AT were aged about 7 years and they were preferentially males (67%). The principal clinical aspects were: cerebellous ataxia (98%), recurrent ENT infections (86%) and ocular telangiectasia (96%). We also showed an immune function defect mainly concerning IgA, which was associated with cellular immunity abnormalities (lymphopenia, negative hypersensitivity reactions). The alpha-fetoprotein (AFP) values were high and increased in proportion to the severity of the neurologic manifestations. Thus, this parameter could be used as a diagnostic index of the illness and could be a precious indicator for the management and the evolution of these patients.
authors.affiliation: Service de pédiatrie, hôpital universitaire de Monastir, Tunisie.
authors.forename: R
authors.initials: R
authors.lastname: Ayache
authors.forename: M F
authors.initials: MF
authors.lastname: Najjar
authors.forename: H
authors.initials: H
authors.lastname: Obeid
authors.forename: H
authors.initials: H
authors.lastname: Pousse
authors.forename: M N
authors.initials: MN
authors.lastname: Gueddiche
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000097:blood* / Q000175:diagnosis* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000097:blood; D008297:Male; D012189:Retrospective Studies; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins