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Alpes–Guttenloher syndrome in medical practice (clinical case)

Modern Pediatrics.Ukraine.2019.5(101):141-147; doi 10.15574/SP.2019.101.141
M.I. Dushar, H.R. Akopyan, L.I. Volos, O.Y. Kovalyk, I.O. Loshak, G.M. Gubych
SI «Institute of Hereditary Pathology of NAMS of Ukraine», Lviv, Ukraine
Faculty of Medicine, Rzeszow University, Poland
Danylo Halytskyy Lviv National Medical University, Ukraine
Municipal institution of Lviv regional council «Lviv regional pathoanatomical bureau», Lviv, Ukraine
Сommunal noncommercial enterprise of Lviv regional council «Western Ukrainian Specialized Children's Medical Centre» Lviv, Ukraine

For citation: Dushar MI, Akopyan HR, Volos LI, Kovalyk OY et al. (2019). Alpes–Guttenloher syndrome in medical practice (clinical case). Modern Pediatrics.Ukraine. 5(101): 141-147. doi 10.15574/SP.2019.101.141
Article received: Apr 13, 2019. Accepted for publication: Sep 14, 2019.

Alpes–Guttenloher is a rare and severe mitochondrial disease that results from depletion of mitochondrial DNA (mtDNA). Caused by mutations in the POLG1 gene. The syndrome is characterized by a triad of symptoms — progressive regression of development, severe convulsions and liver failure. The disease progresses steadily and often leads to death due to liver failure or epileptic status within four years of the onset of the disease. Treatment of epilepsy with valproic acid can lead to a rapid onset of liver failure and should be avoided. In this article we describe the case of an 8 month old baby with epilepsy and liver failure on the background of valproic acid treatment with a fatal case. The diagnosis was confirmed by molecular genetic study post mortum.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee (LEC) of all participating institution. The informed consent of the patient was obtained for conducting the studies.
No conflict of interest was declared by the authors.
Key words: mitochondrial disease, Alpes-Guttenloher syndrome, valproic acid.


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