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Ataxia-Teleangiectasia (A-T) disguised as multiple trigger wheeze and cerebral palsy (CROSBI ID 554202)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa

Navratil , Marta ; Đuranović , V ; Beck , Natko ; Mrkić , Iva ; Turkalj , Mirjana. Ataxia-Teleangiectasia (A-T) disguised as multiple trigger wheeze and cerebral palsy. 2009

Podaci o odgovornosti

Navratil , Marta ; Đuranović , V ; Beck , Natko ; Mrkić , Iva ; Turkalj , Mirjana.

engleski

Ataxia-Teleangiectasia (A-T) disguised as multiple trigger wheeze and cerebral palsy

An eight year old boy came to our hospital due to frequent sinopulmonary infections and recurrent wheezing (suspected asthma). He was a third child of nonconsanguineous parents with 2 older healthy sisters. At the age of 3 he was treated for truncal ataxia and misdiagnosed as a cerebral palsy. Our physical examination has shown truncal ataxia (which was progressive), dysarthria and modest back-scin teleangiectasias. Laboratory findings in our hospital were: white blood cells (WBC) 7.05 x 109/l (neutrophils 58%, lymphocytes 31%, monocytes 8%, eosinophils 3%), total proteins (TP) 65.1 g/l, IgG=0.2 g/l, IgM=2.16 g/l, IgA=0.01 g/l, immunophenotype of peripheral blood mononuclear cells and NK cells: CD3 69% (1078/μ l), CD3+CD4+ 34% (531/μ l), CD3+CD8 30% (469/μ l), CD19 15% (234/μ l), CD3-CD16+56+ 17% (266/μ l). CD4/CD8 1.1, alphafetoprotein (AFP) 425.5 μ g/l, tetanus antibody (ELISA) 1 IU/ml. Brain MRI showed a cerebellar atrophy and sinusitis as a result of primary immunodeficiency. Echosonography of multiple organs showed testicular microlithiasis. The clinical status and the laboratory results were suspicious for A-T. We performed the Western blot to confirm that the boy clearly had no ATM protein in his cells. Genetic analysis in progress.

Ataxia-Teleangiectasia; misdiagnosis

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Podaci o prilogu

2009.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Podaci o skupu

XXVIII Congress of the European Academy of Allergy and Clinical Immunology

ostalo

06.06.2009-10.06.2009

Varšava, Poljska

Povezanost rada

Kliničke medicinske znanosti