eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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SCImago Journal & Country Rank
4/2020
vol. 58
 
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abstract:
Case report

POLG gene mutation. Clinico-neuropathological study

Sylwia Tarka
1
,
Milena Laure-Kamionowska
2
,
Teresa Wierzba-Bobrowicz
3
,
Katarzyna Witulska
4
,
Elżbieta Ciara
5
,
Krystyna Szymańska
2
,
Paweł Krajewski
1
,
Tomasz Stępień
3
,
Albert Acewicz
3
,
Paulina Felczak
3

1.
Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland
2.
Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
3.
Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland
4.
Department of Intensive Care, The Children’s Memorial Health Institute (CMHI), Warsaw, Poland
5.
Department of Medical Genetics, The Children’s Memorial Health Institute (CMHI), Warsaw, Poland
Folia Neuropathol 2020; 58 (4): 386-392
Online publish date: 2021/01/11
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We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared.
keywords:

POLG-mutation, Alpers-Huttenlocher syndrome, acute pancreatitis, medial accessory olivary nuclei

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