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Journals / Turkish Journal of Pediatrics / 2020 / Cilt: 62 - Sayı: 3

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

Pınar ARICAN
Nihal OLGAÇ DÜNDAR
Özgür KIRBIYIK
Dilek ÇAVUŞOĞLU
Sema BOZKAYA YILMAZ
Pınar GENÇPINAR
Pages
491–494
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Our findings highlight the importance of recognizing laryngeal dystonia as one of the clinical signs of A-T.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians.
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Key Findings & Data: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.
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Conclusion & Impact:Our findings highlight the importance of recognizing laryngeal dystonia as one of the clinical signs of A-T.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

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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Cite This Article

ARICAN, P., DÜNDAR, N. O., KIRBIYIK, Ö., ÇAVUŞOĞLU, D., YILMAZ, S. B., GENÇPINAR, P. (2020). Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia. Turkish Journal of Pediatrics, Cilt: 62 - Sayı: 3, 491–494. https://ajindex.com/articles/411857

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