Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.
References
[1]
Ruzman, L., Kolic, I., Nisevic, J.R., Barsic, A.R., Prpic, I.S. and Prpic, I. (2019) A Novel VARS2 Gene Variant in a Patient with Epileptic Encephalopathy. Upsala Journal of Medical Sciences, 124, 273-277. https://doi.org/10.1080/03009734.2019.1670297
[2]
Wu, X.H., Lin, S.Z., Zhou, Y.Q., Wang, W.Q., Li, J.Y. and Chen, Q.D. (2022) VARS2 Gene Mutation Leading to Overall Developmental Delay in a Child with Epilepsy: A Case Report. World Journal of Clinical Case, 10, 8749-8754. https://doi.org/10.12998/wjcc.v10.i24.8749
[3]
(1997) Orphanet: An Online Database of Rare Diseases and Orphan Drugs. INSERM. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=23121
[4]
Bruni, F., Di Meo, I., Bellacchio, E., et al. (2018) Clinical, Biochemical, and Genetic Features Associated with VARS2-Related Mitochondrial Disease. Human Mutation, 39, 563-578. https://doi.org/10.1002/humu.23398
[5]
Begliuomini, C., Magli, G., Di Rocco, M., et al. (2019) VARS2-Linked Mitochondrial Encephalopathy: Two Case Reports Enlarging the Clinical Phenotype. BMC Medical Genetics, 20, Article No. 77. https://doi.org/10.1186/s12881-019-0798-7
[6]
Sullivan, J.A., Schoch, K., Spillmann, R.C. and Shashi, V. (2023) Exome/Genome Sequencing in Undiagnosed Syndromes. Annual Review of Medicine, 74, 489-491. https://doi.org/10.1146/annurev-med-042921-110721
[7]
Taylor, R.W., Pyle, A., Griffin, H., et al. (2014) Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. JAMA, 312, 68-77. https://doi.org/10.1001/jama.2014.7184
[8]
Kaeberle, J. (2018) Epilepsy Disorders and Treatment Modalities. NASN School Nurse, 33, 342-344. https://doi.org/10.1177/1942602X18785246
[9]
de Brito Sampaio, L.P. (2016) Ketogenic Diet for Epilepsy Treatment.Arquivos de Neuro-Psiquiatria, 74, 842-848. https://doi.org/10.1590/0004-282X20160116
