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Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report.

Publication ,  Journal Article
Shah, S; Berezoski, A; Rahman, S; Eckstein, C; Luedke, M
Published in: Neurohospitalist
January 2021

Hospital neurologists participate at the forefront of managing fulminant acute and subacute onset epilepsy, frequently attributed to autoimmune encephalitis (AE). As the recognition of antibody-mediated AE grows, there is a growing number of patients who are treated as antibody-negative AE. While antibody-negative autoimmune processes should be considered in the setting of acute and subacute onset of fulminant epilepsy, other causes must be considered before subjecting patients to long-term immunomodulatory treatments and other potential therapeutic toxicities. We present the case of a previously healthy young man who presented with new-onset refractory seizures treated with escalating doses of anti-epileptic drugs as well as immunosuppression for presumed autoimmune epilepsy. He developed valproic acid induced hepatotoxicity requiring liver transplantation and was later found to have a POLG mutation. We discuss the presentation of POLG mutations as well as the diagnosis of seronegative autoimmune encephalitis. We highlight the need for a broad differential when evaluating new onset refractory seizures in an otherwise healthy person.

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Published In

Neurohospitalist

DOI

ISSN

1941-8744

Publication Date

January 2021

Volume

11

Issue

1

Start / End Page

80 / 83

Location

United States
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shah, S., Berezoski, A., Rahman, S., Eckstein, C., & Luedke, M. (2021). Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report. Neurohospitalist, 11(1), 80–83. https://doi.org/10.1177/1941874420952263
Shah, Suma, Abigail Berezoski, Shareena Rahman, Christopher Eckstein, and Matthew Luedke. “Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report.Neurohospitalist 11, no. 1 (January 2021): 80–83. https://doi.org/10.1177/1941874420952263.
Shah S, Berezoski A, Rahman S, Eckstein C, Luedke M. Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report. Neurohospitalist. 2021 Jan;11(1):80–3.
Shah, Suma, et al. “Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report.Neurohospitalist, vol. 11, no. 1, Jan. 2021, pp. 80–83. Pubmed, doi:10.1177/1941874420952263.
Shah S, Berezoski A, Rahman S, Eckstein C, Luedke M. Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report. Neurohospitalist. 2021 Jan;11(1):80–83.
Journal cover image

Published In

Neurohospitalist

DOI

ISSN

1941-8744

Publication Date

January 2021

Volume

11

Issue

1

Start / End Page

80 / 83

Location

United States