Abstract
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene. And dystonia may develop as a late manifestation in typical AT. Here we report a novel homozygous frameshift ATM mutation (c.1402_1403delAA; p. K468Efs*18) in a 10-year-old male. The patient was diagnosed as typical AT according to clinical presentations which included progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, and cerebellar atrophy. The genetic finding confirmed the diagnosis. Severe dystonia was presented in late stage of this disease. After 3 months of trihexyphenidyl treatment, the frequency of dystonia was reduced significantly. Although dystonia is not uncommon in phenotype spectrum of AT, compared with other symptoms of this syndrome, such as cerebellar ataxia and dysarthria, dystonia can be treated.
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Abbreviations
- AT:
-
ataxia telangiectasia
- AFP:
-
α-fetoprotein
- WES:
-
whole exome sequencing
- FDG-PET:
-
fluorodeoxyglucose-labeled positron emission tomography
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Funding
This work was supported by Beijing Municipal Education Commission, Grant No. TJSH20161002502, and National Natural Science Foundation of China, Grant No. 81771398.
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Zhang and Y. Jia were the major contributors in writing the manuscript. L. Zhang, X. Qi, and Y. Wang contributed to the diagnosis and treatment of the patient. M. Li and S. Wang contributed to the analysis of genetic examination. Y. Wang contributed to checking the manuscript. All authors read and approved the final manuscript.
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All procedures were approved by the ethics committee of Xuanwu Hospital. The parents of our patient provided written informed consent.
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On behalf of all authors, the corresponding author states that there is no conflict of interest.
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Zhang, L., Jia, Y., Qi, X. et al. Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. Childs Nerv Syst 36, 873–875 (2020). https://doi.org/10.1007/s00381-019-04399-3
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DOI: https://doi.org/10.1007/s00381-019-04399-3