Pınar ARICAN, Nihal OLGAÇ DÜNDAR, Özgür KIRBIYIK, Dilek ÇAVUŞOĞLU, Sema BOZKAYA YILMAZ, Pınar GENÇPINAR

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

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.

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