title: Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
abstract: BACKGROUND
  Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections, oculocutaneous telangiectasia, radiosensitivity, early aging, and increased incidence of cancer.
  
  
  METHODS
  We report the case of an 8-year-old boy affected by A-T. At 12 months of age, he had a waddling gait, with his upper body leaning forward. Dystonic/dyskinetic cerebral palsy was diagnosed at the age of 3 years. At age 6 he was diagnosed with asthma based on recurrent wheezing episodes. A-T was confirmed at the age 8 years on the basis of clinical signs and laboratory findings (increased alpha fetoprotein--AFP, immunodeficiency, undetectable ataxia-telangiectasia mutated (ATM) protein on immunoblotting, and identification A-T mutation, 5932G>T).
  
  
  CONCLUSIONS
  The clinical and immunological presentation of ataxia-telangiectasia (A-T) is very heterogeneous and diagnostically challenging, especially at an early age, leading to frequent misdiagnosis.
authors.affiliation: Department of Allergy and Immunology, Srebrnjak Children's Hospital, Zagreb, Croatia.
authors.forename: Marta
authors.initials: M
authors.lastname: Navratil
authors.affiliation: Department of Neurology, Zagreb Children's Hospital, Zagreb, Croatia.
authors.forename: Vlasta
authors.initials: V
authors.lastname: Đuranović
authors.affiliation: Department of Allergy and Immunology, Srebrnjak Children's Hospital, Zagreb, Croatia.
authors.forename: Boro
authors.initials: B
authors.lastname: Nogalo
authors.affiliation: Department of Allergy and Pulmonology, Srebrnjak Children's Hospital, Zagreb, Croatia.
authors.forename: Alen
authors.initials: A
authors.lastname: Švigir
authors.affiliation: Department of Allergy and Pulmonology, Srebrnjak Children's Hospital, Zagreb, Croatia.
authors.forename: Iva
authors.initials: I
authors.lastname: Dumbović Dubravčić
authors.affiliation: Department of Allergy and Immunology, Srebrnjak Children's Hospital, Zagreb, Croatia.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Turkalj
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics / Q000378:metabolism*; D002547:Cerebral Palsy / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D012135:Respiratory Sounds / Q000175:diagnosis / Q000209:etiology*
chemical_list: D005819:Genetic Markers; D004247:DNA; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins