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Malyshev S.M.

Almazov National Medical Research Centre

Popov K.D.

Almazov National Medical Research Centre

Simakov K.V.

Almazov National Medical Research Centre

Marichev A.O.

Almazov National Medical Research Centre

Topuzova M.P.

Almazov National Medical Research Center

Smirnova A.Yu.

Almazov National Medical Research Centre

Ryzhkov A.V.

Almazov National Medical Research Centre

Basek I.V.

Almazov National Medical Research Centre

Yanishevsky S.N.

Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation

Alekseeva T.M.

Almazov National Medical Research Center

Schlyakhto E.V.

Almazov National Medical Research Centre

Status epilepticus in a pregnant patient with a previously unrecognized POLG-associated disease

Authors:

Malyshev S.M., Popov K.D., Simakov K.V., Marichev A.O., Topuzova M.P., Smirnova A.Yu., Ryzhkov A.V., Basek I.V., Yanishevsky S.N., Alekseeva T.M., Schlyakhto E.V.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(10): 129‑135

DOI: 10.17116/jnevro2023123101129

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Table of contents

STATUS EPILEPTICUS IN A PREGNANT PATIENT WITH A PREVIOUSLY UNRECOGNIZED POLG-ASSOCIATED DISEASE
STATUS EPILEPTICUS IN A PREGNANT PATIENT WITH A PREVIOUSLY UNRECOGNIZED POLG-ASSOCIATED DISEASE

To cite this article:

Malyshev SM, Popov KD, Simakov KV, et al. . Status epilepticus in a pregnant patient with a previously unrecognized POLG-associated disease. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(10):129‑135. (In Russ.)
https://doi.org/10.17116/jnevro2023123101129

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

POLG-associated diseases are rare causes of pharmacoresistant epilepsy and status epilepticus, especially in adult patients. Phenotypic and genotypic variability in these conditions causes the complexity of their diagnosis. In the study, we report a case of a 33-year-old female patient who developed recurrent convulsive status epilepticus with focal clonic onset at the week 22/23 of pregnancy. Intensive anti-seizure therapy was administered, including the use of valproic acid, as well as the treatment of somatic complications. Given the acute onset, the semiology of seizures, the presence of psychopathological symptoms, autoimmune etiology of the disease was initially suspected. A month after the withdrawal of valproic acid, the patient began to show signs of toxic hepatitis, which eventually led to death. According to the results of whole-exome sequencing obtained later, the patient was a carrier of a pathogenic homozygous variant c.2243G>C (p.W748S) in the POLG gene. The presented case highlights the importance of molecular genetic testing and the risk associated with valproic acid hepatotoxicity in patients with cryptogenic epileptic status.

Keywords:

POLG
status epilepticus
valproic acid
Alpers—Huttenlocher syndrome
case report

Authors:

Malyshev S.M.

Almazov National Medical Research Centre

Popov K.D.

Almazov National Medical Research Centre

Simakov K.V.

Almazov National Medical Research Centre

Marichev A.O.

Almazov National Medical Research Centre

Topuzova M.P.

Almazov National Medical Research Center

Smirnova A.Yu.

Almazov National Medical Research Centre

Ryzhkov A.V.

Almazov National Medical Research Centre

Basek I.V.

Almazov National Medical Research Centre

Yanishevsky S.N.

Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation

Alekseeva T.M.

Almazov National Medical Research Center

Schlyakhto E.V.

Almazov National Medical Research Centre

Received:

21.06.2023

Accepted:

03.07.2023

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