eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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1/2021
vol. 59
 
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abstract:
Letter to the Editor

Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal

Josef Finsterer
1

  1. Klinik Landstrasse, Messerli Institute, Vienna, Austria
Folia Neuropathol 2021; 59 (1): 17-18
Online publish date: 2021/03/31
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With interest we read the article by Tarka et al. about the autopsy findings of an 8-year-old female with mitochondrial disorder (MID) due to the compound heterozygous variants c.2243G>C and c.2542G>A in POLG1 [1]. The patient manifested clinically with mental retardation, developmental regression, and myoclonic epilepsy, for which she received valproic acid (VPA) [1]. Neuropathological studies after death from acute pancreatitis and liver failure revealed bilaterally symmetric degenerative lesions of the accessory olivary nuclei in addition to typical features of Alpers-Huttenlocher disease (AHD) [1]. It was concluded that pancreatitis prior to liver failure is unusual [1]. The study is appealing but raises comments and concerns.
keywords:

POLG1, epilepsy, Alpers-Huttenlocher disease, liver failure, mitochondrial disorder

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