Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia

Anshita Arora; Shruti Bajaj; Nishant Rathod; Anaita U Hegde

doi:10.4103/aian.aian_690_22


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CASE REPORT

Year : 2022 | Volume : 25 | Issue : 6 | Page : 1167-1169

Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia

Anshita Arora¹, Shruti Bajaj², Nishant Rathod³, Anaita U Hegde⁴
¹ DNB Pediatrics, Fellowship in Pediatric Neurology, Clinical Associate in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India
² MD Pediatrics, Fellowship in Clinical Genetics (MUHS), Consultant Clinical Geneticist, NH SRCC Children Hospital, Mumbai, Maharashtra, India
³ DNB Pediatrics, Clinical Fellow in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India
⁴ MD Pediatrics MRCPCH (Lon), Consultant Pediatric Neurologist, NH SRCC Children Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Anaita U Hegde
Department of Pediatric Neurology, NH SRCC Children Hospital, 1-1A, Keshavrao Khadye Marg, Haji Ali, Mahalakshmi, Mumbai - 400 034, Maharashtra
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/aian.aian_690_22

Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in the course of the disease. A diagnosis of variant or atypical ataxia-telangiectasia (variant AT) is considered in case of any deviation from the normal course of illness giving rise to variable presentations of the disease. Only a few cases of variant AT with predominant movement disorder have been reported worldwide. A knowledge of atypical presentations helps in early diagnosis and thus to initiate management and counselling of the family at the earliest. Here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia.

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