Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.
Turk J Pediatr
; 62(3): 491-494, 2020.
Article
em En
| MEDLINE
| ID: mdl-32558426
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
/
Distonia
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2020
Tipo de documento:
Article