Mitochondrial DNA depletion syndrome, type 3 (hepatocerebral type): a case report
https://doi.org/10.15690/rpj.v5i2.2755
Abstract
Backdround. Mitochondrial DNA depletion syndrome (MDDS) hepatocerebral type is an inherited disease that is inherited in an autosomal recessive type and is associated with a malfunction of the mitochondria. Progressive impairment of vital functions, metabolic and coagulation disorders characteristic of this disease, most often lead to death. At the moment, there is no pathogenetic treatment.
Case report. A child born at 39 weeks of gestation from a closely related marriage had metabolic acidosis, hypoglycemia, hemorrhagic syndrome with acute liver failure from the first day of life, which subsequently led to death at the age of 17 days of life.
Conclusion. The main clinical and laboratory signs are described, on the basis of which the presence of mtDNA depletion syndrome can be assumed. A molecular genetic examination has been carried out, which makes it possible to diagnose this disease in a child with a high probability and will give parents the opportunity for further more thorough examination, prenatal counseling and planning of the next pregnancy .
Supporting agencies: Not specified.
About the Authors
Natalya V. Kalyakova
Yekaterinburg Clinical Perinatal Center
Russian Federation
Russian Federation
Natalya V. Kalyakova, MD
3, Komvuzovskaya Str., Yekaterinburg, 620066
Evgenii V. Shestak
Yekaterinburg Clinical Perinatal Center; Ural State Medical University
Russian Federation
Russian Federation
Evgenii V. Shestak, MD, PhD
Yekaterinburg
Yaroslava M. Krohaleva
Sverdlovsk Regional Pathology Office
Russian Federation
Russian Federation
Yaroslava M. Krohaleva, MD
Yekaterinburg
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Review
For citations:
Kalyakova N.V., Shestak E.V., Krohaleva Ya.M. Mitochondrial DNA depletion syndrome, type 3 (hepatocerebral type): a case report. Russian Pediatric Journal. 2024;5(2):86–93. (In Russ.) https://doi.org/10.15690/rpj.v5i2.2755
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