Hyperhomocysteinemia as a risk factor for cerebral vascular thrombosis in a child with a traumatic brain injury. Clinical observation
https://doi.org/10.25557/2073-7998.2023.09.47-52
Abstract
The clinical observation of the patient and a brief review of the literature on this problem (diagnosis and treatment) are given. Cerebral vascular thrombosis is one of the most common causes of death. The identification of the etiology of the disease is relevant for the tactics of treatment and prevention of thrombosis. The causes of cerebral vascular thrombosis, including in children, may be hyperhomocysteinemia, mutations in the genes of thrombophilia. The clinical observation of a 15-year-old child with deep vein thrombosis of the brain, venous sinuses is described. Tandem mass spectrometry and targeted sequencing were performed. A twofold increase in the level of homocysteine and methionine in the blood serum was determined. When sequencing the CBS gene (cystathionine beta-synthase gene) a mutation described in the international mutation database HGMD(CM970234) NM_000071 has been identified:c.785 C>T (p.T262M) in a heterozygous state. A replacement in the CBS gene NM_000071:c. 352 G>A (p.V118M), undescribed in the international database for HGMD mutations and dbSNP polymorphism, was also identified, but according to pathogenicity programs it is highly likely pathogenic. Conclusion: cerebral vascular thrombosis in children is a rare condition, so it is important to search for the genetic cause of the disease.
About the Authors
S. V. Kotov
Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
61/2 Shchepkina st., Moscow, 129110
O. P. Sidorova
Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
61/2 Shchepkina st., Moscow, 129110
A. S. Kotov
Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
61/2 Shchepkina st., Moscow, 129110
E. V. Proskurina
Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
61/2 Shchepkina st., Moscow, 129110
O. A. Solovova
Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
61/2 Shchepkina st., Moscow, 129110
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For citations:
Kotov S.V., Sidorova O.P., Kotov A.S., Proskurina E.V., Solovova O.A. Hyperhomocysteinemia as a risk factor for cerebral vascular thrombosis in a child with a traumatic brain injury. Clinical observation. Medical Genetics. 2023;22(9):47-52. (In Russ.) https://doi.org/10.25557/2073-7998.2023.09.47-52
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