Ataksi-telenjiektazili hastaların demografik ve sistemik tutulum özellikleri.

Objective: Ataxia-telangiectasia is rare, an autosomal recessive, neurodegenerative disorder characterized by progressive cerebellar ataxia, cutaneous and conjunctival telangiectasia, immunodeficiency, and increased risk of malignancy. In this study, we aim to determinate demographics, neurological, dermatological and immunological manifestation of children diagnosed with ataxia-telangiectasia in our clinics. Materials and Methods: We did a retrospective medical chart review of pediatric allergy and immunology database for children diagnosed with ataxia-telangiectasia in Inonu and Ondokuz Mayis University Faculty of Medicine between 2006 and 2013. Results: Ataxia-telangiectasia was diagnosed in 25 patients. The mean age was 10.08 ± 4.14 (died children were included) and 16 (64%) of the patients were male. The mean follow up period was 5.32 ± 3.84 years. Ataxia was the first sign of disease which was noticed by the parents and median diagnosis age was 4 years old (min: 1.5, max: 12). Neurological and dermatological manifestations were seen in all patients. Also immunological manifestations were seen in 85% of all patients. The most frequent neurologic sign was ataxia and present in all patients, followed by dysmetria (96%), dysarthria (92%), bradykinesia (80%) and ocular apraxy (60%), respectively. Telangiectasia was present in all patients and the most frequent localization was conjunctiva. Pigmentary anomalies were present in 17 (68%) patients, molluscum contagiosum in 2 (8%) patients and verruca in 1 (4%) patient. The most frequent form of immunologic deficiency was IgA deficiency (80%) which was followed by Ig G deficiency (60%) and lymphopenia (12%). Growth failure was present in 96% of patients and head circumference was under -1SD in 56% of patients. In follow up, 5 (20%) patients had experienced recurrent otitis media, 18 (%72) patients had experienced recurrent pulmonary infection. Bronchiectasis was developed in 7 (28%) patients and hemophagocytic sendrome was developed in one patient. Seven patients died (three due to non-Hodgkin lymphoma, two due to pulmonary infection, one due to hemophagocytic sendrome and one due to acute lymphoblastic leukemia). Conclusion: Ataxia and telenjiectasia were the most frequent signs of the disease and followed by immunological and pigmentary anomalies. Therefore, ataxia telenjiectasia should be consider in diagnosis if the patients who have dermatological signs such as telangiectasia and pigmentary anomalies and growth failure with ataxia. [ABSTRACT FROM AUTHOR]