[Ataxia telangiectasia (Louis-Bar syndrome)].
Ataxia telangiectasia (Louis-Bar syndrome) represents a disease of childhood, characterized by diffuse telangiectasia of the skin and the conjunctivae and cerebellar ataxia. Patients are frequently predisposed for infections due to disturbances of the cellular and humoral immunity. This paper discusses the syndrome referring to an own observation of ataxia telangiectasia and literature of the past.
D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D012867:Skin / Q000473:pathology
Ataxia teleangiectatica (Louis-Bar-Syndrom).