MT-ND5 gene mutation-associated mitochondrial complex I cytopathy in Leigh syndrome presenting as writer’s cramp: A case report

Vikash Agarwal; Dolly Mushahary; Anil Venkitachalam; Sachin Suresh Babu; Dinesh Nayak

doi:10.4103/AOMD.AOMD_38_20

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CASE REPORTS

Year : 2021 \| Volume : 4 \| Issue : 2 \| Page : 92-95

MT-ND5 gene mutation-associated mitochondrial complex I cytopathy in Leigh syndrome presenting as writer’s cramp: A case report Vikash Agarwal¹, Dolly Mushahary², Anil Venkitachalam³, Sachin Suresh Babu⁴, Dinesh Nayak¹ ¹ Gleneagles Global Health City, 439 Cheran Nagar, Perumbakkam, Chennai, Tamil Nadu, India ² SM Hospital, Chapaguri Road, North Bongaigaon, Assam, India ³ Department of Neurology, Nanavati Hospital, Mumbai, Maharashtra, India ⁴ Aster MIMS Hospital, Mini Bypass Road, Govindpuram, Kozhikod, Kerala, India Correspondence Address: Dr. Vikash Agarwal 4C, BBCL Ananya, 17/34 Five Furlong Road, Guindy, Chennai 600032, Tamil Nadu. India Source of Support: None, Conflict of Interest: None DOI: 10.4103/AOMD.AOMD_38_20

Leigh syndrome is a classical mitochondrial cytopathy with multisystemic presentation that can lead to death in the first few years of life; however, cases in adults have also been reported. In this study, we report the case of an adolescent female presenting with writer’s cramp associated with the MT-ND5 gene mutation, diagnosed after observation of brain abnormalities on magnetic resonance imaging (MRI) and biochemical changes suggestive of mitochondrial cytopathy. The patient responded to botulinum toxin injection. To the best of our knowledge, ours is the first case report on focal dystonic presentation associated with the MT-ND5 gene mutation (with unclear pathogenicity) as a mild form of Leigh syndrome in adolescents.



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