The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 3
Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia
Pınar Arıcan 1 ,Nihal Olgaç Dündar 2 ,Özgür Kırbıyık 3 ,Dilek Çavusoğlu 4 ,Sema Bozkaya Yılmaz 1 ,Pınar Gençpınar 2
1 Departments of Pediatric Neurology, İzmir Tepecik Training and Research Hospital, İzmir
2 Department of Pediatric, Neurology, İzmir Katip Celebi University, İzmir
3 Departments of Genetic, İzmir Tepecik Training and Research Hospital, İzmir
4 Department of Pediatric Neurology, Afyon Kocatepe University Faculty of Medicine, Afyon, Turkey
DOI : 10.24953/turkjped.2020.03.019 Background. Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians.

Case. Herein, we report a case of a 16 years-old girl presenting with laryngeal dystonia due to compound heterozygosity of a known pathogenic and a novel variant in the ATM gene. Serum alpha-fetoprotein level was elevated. Serum IgG, IgA, IgM and IgE levels were within normal range. Treatment with L-DOPA had no benefit. Her symptoms were dramatically improved by localized botulinum toxin injections.

Conclusion. Mutations in the ATM gene show a wide phenotypic spectrum from severe classical early-onset ataxia–telangiectasia (A-T) to late-onset milder variant A-T. Our findings highlight the importance of recognizing laryngeal dystonia as one of the clinical signs of A-T. Keywords : ataxia–telangiectasia, ATM gene, dysarthria, dystonia

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