Clinical case of mitochondrial complex i deficiency, nuclear type 5 (Ley syndrome)
E. A. Tkachuk,
D. M. Barykova,
T. E. Povalko,
G. P. Bogonosova,
I. J. Seminsky,
T. A. Astakhova,
D. V. Lubimova,
V. V. Sizykh https://doi.org/10.25789/YMJ.2024.87.25
Abstract
Diagnosis of mitochondrial pathology is a difficult practical task. The variability of clinical manifestations of mitochoric diseases is associated with high genetic heterogeneity of mitochondrial pathology. Therefore, the analysis of clinical cases of mitochondrial pathology is an urgent task for early diagnosis. The purpose of this study: to analyze a clinical case of mitochondrial complex deficiency complex I, nuclear type 5 (Ley syndrome).
It is shown that the development of the disease manifested in early preschool age against the background of intercurrent disease. The disease manifested itself by metabolic disorders, degenerative signs from the nervous system, immunological changes and within 9 months led to a fatal outcome. The absence of specific signs at the initial stage significantly complicates the diagnosis of the disease and leads to difficulties in diagnosis.
About the Authors
E. A. Tkachuk
SBHI Irkutsk Order of the Badge of Honor, Regional Clinical Hospital; Ivano-Matreninskaya City Children's Clinical Hospital
Russian Federation
Russian Federation
Tkachuk Elena Anatolyevna – MD, PhD, Associate Professor, Professor of the Federal State Budgetary Educational Institution of Higher Education Irkutsk State Medical University, Ministry of Healthcare RF, senior researcher of FSBSI Scientific Center for Family Health and Human Reproduction Problems, Irkutsk, Leading Researcher of FSBSI East Siberian Institute of Medical and Ecological Research”.
Angarsk
D. M. Barykova
SBHI Irkutsk Order of the Badge of Honor, Regional Clinical Hospital; Ivano-Matreninskaya City Children's Clinical Hospital
Russian Federation
Russian Federation
Barykova Darya Mikhailovna – geneticist of SBHI Irkutsk Order of the Badge of Honor, Regional Clinical Hospital, Irkutsk, geneticist of the Ivano-Matreninskaya City Children's Clinical Hospital
Irkutsk
T. E. Povalko
Ivano-Matreninskaya City Children's Clinical Hospital
Russian Federation
Russian Federation
Povalko Tamara Evgenievna – resuscitator.
Irkutsk
G. P. Bogonosova
Ivano-Matreninskaya City Children's Clinical Hospital; Irkutsk State Medical University
Russian Federation
Russian Federation
Bogonosova Galina Petrovna – neonatologist, Ivano-Matreninskaya City Children's Clinical Hospital, postgraduate student, Scientific Center for Family Health and Human Reproduction Problems, assistant professor, Irkutsk SMU.
Irkutsk
I. J. Seminsky
Irkutsk State Medical University
Russian Federation
Russian Federation
Seminsky Igor Janovich – MD, professor, vice-rector for research, head of the department
T. A. Astakhova
FSBSI Scientific Center for Family Health and Human Reproduction Problems
Russian Federation
Russian Federation
Astakhova Tatyana Aleksandrovna – medical geneticist, research fellow.
Irkutsk
D. V. Lubimova
FSBEI HE Irkutsk State Medical University
Russian Federation
Russian Federation
Lubimova Darya Vladimirovna – 4th-year student
V. V. Sizykh
FSBEI HE Irkutsk State Medical University
Russian Federation
Russian Federation
Sizykh Vadim Vasilyevich – 4thyear student.
Irkutsk
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Review
For citations:
Tkachuk E.A., Barykova D.M., Povalko T.E., Bogonosova G.P., Seminsky I.J., Astakhova T.A., Lubimova D.V., Sizykh V.V. Clinical case of mitochondrial complex i deficiency, nuclear type 5 (Ley syndrome). Yakut Medical Journal. 2024;(3):121-125. https://doi.org/10.25789/YMJ.2024.87.25
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