Abstract
Background: SLC25A46, mitochondrial protein shown to be involved in mitochondrial dynamics. Mutation in this protein has been associated with neurological disease. Case Description: We describe a 19year male presented with decreased vision in both eyes at the age of 5-7years associated with clumpsiness in doing things with upper limb with involuntary movements during rest and tremors. He had low visual acuity for both distant and near, abnormal color vision in both eyes. Features of bilateral optic atrophy and absent P100 waves on VEP. Deranged lipid profile and Raised TSH and TPO antibodies were seen. Muscle biopsy showed neurogenic atrophy and loss of myelination. Lumbar lardosis was noted and Whole exome sequence analysis homozygous pathogenic mutation in SLC25A46 (C.1018>T/P. Arg 340cys). Conclusion: It’s important to be aware of genetic inheritance and phenotype variants of these mitochondrial disorders. We present a novel variant (p.Arg340Cys) of SLC25A46 deficiency and unusual association with hashimoto’s thyroiditis.
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