Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

• DOI: 10.5001/omj.2020.11
• Publication Date: 2020-02-17T02:05:15Z
• Authors: Majid Zaki-Dizaji; Mohammad Tajdini; Fatemeh Kiaee; Hossein Shojaaldini; Reza Shervin Badv; Hassan Abolhassani; Asghar Aghamohammadi
• Keywords: Cerebellar ataxia; Gait Ataxia

Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There vast phenotype variation in patients with A-T recently, dystonia, an extrapyramidal movement disorder. Here, we report the case 10-year-old girl who had experienced repeated diarrhea mild gait since age two years. At seven, ocular were evident immunoglobulin level assessment showed hyper IgM immune phenotype, thus diagnosis was made based on clinical laboratory findings, she started intravenous therapy. Generalized dystonia appeared when 10-years-old. Molecular analysis revealed heterozygous mutations, c.6259delG c.6658C>T, ATM gene which one (c.6259delG) novel. Dystonia can be part picture disorder may even mask ataxia. This should considered as major feature mainly variant A-T, occur without general misdiagnosed adults primary dystonia.