Early form of mitochondrial epileptic encephalopathy due to primary deficiency of coenzyme Q10

• Published in: Uchenye zapiski (Sankt-Peterburgskiĭ gosudarstvennyĭ medit͡s︡inskiĭ universitet im. akad. I.P. Pavlova) Vol. 30; no. 4; pp. 79 - 90
• Main Authors: Melashenko, T. V., Laptiev, S. A., Malekov, D. I., Fomina, M. Yu, Novoselova, O. G., Bikanov, R. A., Tsibulskaya, D. S., Smirnova, A. V.
• Format: Journal Article
• Language: English
• Published: 22.11.2023
• ISSN: 1607-4181; 2541-8807
• DOI: 10.24884/1607-4181-2023-30-4-79-90

Epileptic encephalopathy (EE) is a group of genetic monogenic diseases with leading feature of intractable epilepsy with onset at an early age and the development of neurocognitive deficit. Thanks to the development of molecular genetic diagnostic methods, more than 90 hereditary forms of EE have been identified, more of which have been discovered over the past decade. EE can be associated with impaired molecular function of neuron transporters (voltage-dependent and ligand-dependent transporters), metabolic disorders, and chromosomal diseases. Among monogenic EE, a group of diseases is distinguished, in which brain damage and the development of epilepsy are caused by hereditary disorders of mitochondrial functions. Given the wide variety of forms of mitochondrial dysfunctions, the absence of specific manifestations, different age of manifestation, the diagnosis of this group of diseases is not a routine process and requires DNA test (whole-exome/genome sequencing, gene panels). With the creation of new drugs that correct mitochondrial disorders, in-time diagnosis of mitochondrial dysfunctions, identification of a genetic disorder contributes to the in-time manage of pathogenetic treatment, the choice of an antiepileptic drug, which can reduce the risk of mortality and the degree of patient disability. We describe the case of early neonatal epilepsy in the structure of hereditary deficiency of coenzyme Q10. However, unfortunately, the late started specifical energotropic therapy and the severe course of the disease led to an early death. Hereditary defects in coenzyme Q are rare genetic disorders. In this regard, for the specialists leading the patient, the discovery of this particular defect was most likely an “unexpected” finding. Considering the complexity and duration of the whole exome study, the severity of the phenotype and the delay in energotropic therapy, the course of the disease in the child turned out to be extremely unfavorable. The presentation of the clinical case, in our opinion, will be important for practitioners who rarely encounter this type of pathology.