title: Ataxia telangiectasia: learning from previous mistakes.
abstract: Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.
authors.affiliation: Department of Internal Medicine, PGIMER & Dr Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Naveen
authors.initials: N
authors.lastname: Kumar
authors.forename: Puneet
authors.initials: P
authors.lastname: Aggarwal
authors.forename: Nishanth
authors.initials: N
authors.lastname: Dev
authors.forename: Gunjan
authors.initials: G
authors.lastname: Kumar
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications*; D057210:Delayed Diagnosis / Q000009:adverse effects; D005128:Eye Diseases / Q000150:complications*; D017809:Fatal Outcome; D006801:Humans; D007709:Klebsiella; D007710:Klebsiella Infections / Q000150:complications* / Q000188:drug therapy; D008297:Male; D010102:Oxygen Inhalation Therapy; D010342:Patient Acceptance of Health Care; D018410:Pneumonia, Bacterial / Q000150:complications* / Q000188:drug therapy / Q000382:microbiology; D018805:Sepsis / Q000188:drug therapy / Q000209:etiology*