Article
Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.
The Turkish journal of pediatrics - 1 Jan 2020
Arıcan Pınar, Dündar Nihal Olgaç, Kırbıyık Özgür, Çavusoğlu Dilek, Yılmaz Sema Bozkaya, Gençpınar Pınar
Abstract excerpt
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...
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