Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.
Ataxia Telangiectasia
Dystonia
Mutation
Journal
Oman medical journal
ISSN: 1999-768X
Titre abrégé: Oman Med J
Pays: Oman
ID NLM: 101526350
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
12
05
2018
accepted:
17
10
2018
entrez:
26
2
2020
pubmed:
26
2
2020
medline:
26
2
2020
Statut:
epublish
Résumé
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-T and recently, dystonia, an extrapyramidal movement disorder. Here, we report the case of a 10-year-old girl who had experienced repeated diarrhea and mild gait ataxia since the age of two years. At age seven, ataxia and ocular telangiectasia were evident and immunoglobulin level assessment showed hyper IgM immune phenotype, thus a diagnosis of A-T was made based on clinical and laboratory findings, and she was started on intravenous immunoglobulin therapy. Generalized dystonia appeared when she was 10-years-old. Molecular analysis revealed two heterozygous mutations, c.6259delG and c.6658C>T, in the
Identifiants
pubmed: 32095276
doi: 10.5001/omj.2020.11
pii: OMJ-35-01-1800077
pmc: PMC7024809
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e93Informations de copyright
The OMJ is Published Bimonthly and Copyrighted 2020 by the OMSB.
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