Naslov
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report

Autori
Navratil, Marta ; Đuranović, Vlasta ; Nogalo, Boro ; Švigir, Alen ; Dumbović Dubravčić, Iva ; Turkalj, Mirjana

Izvornik
American Journal of Case Reports (1941-5923) 16 (2015); 631-636

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Ataxia Telangiectasia Mutated Proteins - metabolism, Ataxia Telangiectasia - genetics, Cerebral Palsy - etiology, Child, DNA - genetics, DNA Mutational Analysis, Diagnosis, Differential, Genetic Markers, Mutation, Respiratory Sounds - etiology

Sažetak
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. CASE REPORT: 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.

Izvorni jezik
Engleski

POVEZANOST RADA