Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] W...

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Autores principales: Maramattom, Boby Varkey, Raja, Rajat, Balagopal, Anuroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/
https://www.ncbi.nlm.nih.gov/pubmed/27570396
http://dx.doi.org/10.4103/0972-2327.167701
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author Maramattom, Boby Varkey
Raja, Rajat
Balagopal, Anuroop
author_facet Maramattom, Boby Varkey
Raja, Rajat
Balagopal, Anuroop
author_sort Maramattom, Boby Varkey
collection PubMed
description Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain.
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spelling pubmed-49809672016-08-26 Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity Maramattom, Boby Varkey Raja, Rajat Balagopal, Anuroop Ann Indian Acad Neurol Case Report Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4980967/ /pubmed/27570396 http://dx.doi.org/10.4103/0972-2327.167701 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Maramattom, Boby Varkey
Raja, Rajat
Balagopal, Anuroop
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title_full Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title_fullStr Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title_full_unstemmed Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title_short Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
title_sort late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/
https://www.ncbi.nlm.nih.gov/pubmed/27570396
http://dx.doi.org/10.4103/0972-2327.167701
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