Familial cases of subacute necrotizing encephalomyelopathy (Leigh syndrome)
DOI: 10.32364/2618-8430-2021-4-4-370-374
E.V. Shishkina1, T.N. Bazilevskaya2, I.V. Novikova2, I.V. Leonova2,
Yu.G. Astanina3, I.I. Cheskidova3, D.A. Maiseenko1
1Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk,
Russian Federation
2Krasnoyarsk Interregional Children’s Clinical Hospital No. 1, Krasnoyarsk, Russian Federation
3I.S. Berzon Krasnoyarsk Interregional City Hospital No. 20, Krasnoyarsk, Russian Federation
Mitochondrial diseases are not uncommon. However, their genetic diagnosis is challenging for practitioners and requires up-to-date high-tech methods. Early accurate diagnosis in first probands provides early preclinical genetic testing in all born children in compromised families and prenatal testing in future pregnancies, thereby allowing a differential planning of future pregnancies. This paper discusses a progressive central nervous system disorder, a congenital mitochondrial disease, subacute necrotizing encephalomyelopathy (Leigh syndrome). First, the authors briefly review etiology, prevalence, clinical presentations, diagnostic techniques, and treatment for this disease in children. Then, unique familial cases describing the diversity of clinical presentations are described. The diagnosis was genetically verified in all patients. MR signs always accompany the gradual loss of motor skills at early stages. Blood biochemistry identifies lactic acidosis.
Keywords: child ren, mitochondrial diseases, subacute necrotizing encephalomyelopathy, lactic acidosis, Leigh syndrome, diagnosis, mutations in the SURF1 gene.
For citation: Shishkina E.V., Bazilevskaya T.N., Novikova I.V. et al. Familial cases of subacute necrotizing encephalomyelopathy (Leigh syndrome). Russian Journal of Woman and Child Health. 2021;4(4):370–374 (in Russ.). DOI: 10.32364/2618-8430-2021-4-4-370-374.
About the authors:
Elena V. Shishkina — C. Sc. (Med.), associate professor of the Department of Nervous Diseases and Medical Rehabilitation with the Course of Postgraduate Education of the Medical Faculty, Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University; 1, Partizan Zheleznyak str., Krasnoyarsk, 660022, Russian Federation; ORCID iD 0000-0002-5818-3482.
Tamara N. Bazilevskaya — neurologist, Krasnoyarsk Interregional Children’s Clinical Hospital No. 1; 149, Lenin str., Krasnoyarsk, 660015, Russian Federation; ORCID iD 0000-0002-5874-5342.
Irina V. Novikova — neurologist, Krasnoyarsk Interregional Children’s Clinical Hospital No. 1; 149, Lenin str., Krasnoyarsk, 660015, Russian Federation; ORCID iD 0000-0003-3591-5764.
Irina V. Leonova — neurologist, Krasnoyarsk Interregional Children’s Clinical Hospital No. 1; 149, Lenin str., Krasnoyarsk, 660015, Russian Federation; ORCID iD 0000-0001-8297-8376.
Yuliya G. Astanina — neurologist, I.S. Berzon Krasnoyarsk Interregional City Hospital No. 20, 12, Instrumental’naya str., Krasnoyarsk, 660123, Russian Federation; ORCID iD 0000-0003-1096-3962.
Inna I. Cheskidova — neurologist, I.S. Berzon Krasnoyarsk Interregional City Hospital No. 20; 12, Instrumental’naya str., Krasnoyarsk, 660123, Russian Federation; ORCID iD 0000-0001-9093-2052.
Dmitriy A. Maiseenko — C. Sc. (Med.), associate professor of the Department of Obstetrics and Gynecology of the Institute of Postgraduate Education, Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University; 1, Partizan Zheleznyak str., Krasnoyarsk, 660022, Russian Federation; ORCID iD 0000-0003-1569-5098.
Contact information: Elena V. Shishkina, e-mail: Alenas1977@mail.ru.
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interests.
Received 12.07.2021.
Revised 04.08.2021.
Accepted 27.08.2021.
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