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2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat

CASE SUMMARY: A 14-month-old male castrated domestic shorthair cat, which 2 months prior to presentation underwent hindlimb amputation following a road traffic accident, presented for investigation of four suspected generalised tonic–clonic seizures. Neurological examination was unremarkable. Routin...

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Detalles Bibliográficos
Autores principales: Nye, George J, Major, Alison C, Liebel, Francois X
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582301/
https://www.ncbi.nlm.nih.gov/pubmed/31245020
http://dx.doi.org/10.1177/2055116919853898
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author Nye, George J
Major, Alison C
Liebel, Francois X
author_facet Nye, George J
Major, Alison C
Liebel, Francois X
author_sort Nye, George J
collection PubMed
description CASE SUMMARY: A 14-month-old male castrated domestic shorthair cat, which 2 months prior to presentation underwent hindlimb amputation following a road traffic accident, presented for investigation of four suspected generalised tonic–clonic seizures. Neurological examination was unremarkable. Routine blood work (haematology, biochemistry, ammonia, preprandial bile acids) was unremarkable. MRI of the brain identified marked symmetrical T2-weighted hyperintensities of the cerebellum and brainstem, mainly affecting the grey matter. Urine amino acid and mucopolysaccharide levels were unremarkable. Urine organic acids on two separate samples, 35 days apart, identified highly increased excretion of 2-hydroxyglutaric acid, indicative of 2-hydroxyglutaric aciduria. The cat was started on anticonvulsant therapy with phenobarbitone, which, at the point of writing, has improved seizure control, although the cat has not achieved seizure freedom. RELEVANCE AND NOVEL INFORMATION: This case report describes the first reported case of a 2-hydroxyglutaric aciduria, an inherited neurometabolic disorder, as a cause for seizure-like episodes in a cat.
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spelling pubmed-65823012019-06-26 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat Nye, George J Major, Alison C Liebel, Francois X JFMS Open Rep Case Report CASE SUMMARY: A 14-month-old male castrated domestic shorthair cat, which 2 months prior to presentation underwent hindlimb amputation following a road traffic accident, presented for investigation of four suspected generalised tonic–clonic seizures. Neurological examination was unremarkable. Routine blood work (haematology, biochemistry, ammonia, preprandial bile acids) was unremarkable. MRI of the brain identified marked symmetrical T2-weighted hyperintensities of the cerebellum and brainstem, mainly affecting the grey matter. Urine amino acid and mucopolysaccharide levels were unremarkable. Urine organic acids on two separate samples, 35 days apart, identified highly increased excretion of 2-hydroxyglutaric acid, indicative of 2-hydroxyglutaric aciduria. The cat was started on anticonvulsant therapy with phenobarbitone, which, at the point of writing, has improved seizure control, although the cat has not achieved seizure freedom. RELEVANCE AND NOVEL INFORMATION: This case report describes the first reported case of a 2-hydroxyglutaric aciduria, an inherited neurometabolic disorder, as a cause for seizure-like episodes in a cat. SAGE Publications 2019-06-18 /pmc/articles/PMC6582301/ /pubmed/31245020 http://dx.doi.org/10.1177/2055116919853898 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Nye, George J
Major, Alison C
Liebel, Francois X
2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title_full 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title_fullStr 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title_full_unstemmed 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title_short 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
title_sort 2-hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582301/
https://www.ncbi.nlm.nih.gov/pubmed/31245020
http://dx.doi.org/10.1177/2055116919853898
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