POLG gene mutation. Clinico-neuropathological study

Sylwia Tarka; Milena Laure-Kamionowska; Teresa Wierzba-Bobrowicz; Katarzyna Witulska; Elżbieta Ciara; Krystyna Szymańska; Paweł Krajewski; Tomasz Stępień; Albert Acewicz; Paulina Felczak

doi:10.5114/fn.2020.102441

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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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

Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland
Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland
Department of Intensive Care, The Children’s Memorial Health Institute (CMHI), Warsaw, Poland
Department of Medical Genetics, The Children’s Memorial Health Institute (CMHI), Warsaw, Poland

Folia Neuropathol 2020; 58 (4): 386-392

DOI: https://doi.org/10.5114/fn.2020.102441

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 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

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

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