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A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus

We report the characteristic neuroimaging features of a rare metabolic leukodystrophy in an 8-year-old boy, born of consanguineous parenthood. The child presented with macrocrania, regression of milestones, and dystonia. The patient was referred for magnetic resonance imaging with a clinical diagnos...

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Autores principales: Rajani, Heena, Grover, Shabnam Bhandari, Antil, Neha, Katyan, Amit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251246/
https://www.ncbi.nlm.nih.gov/pubmed/30546934
http://dx.doi.org/10.4103/jcis.JCIS_56_18
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author Rajani, Heena
Grover, Shabnam Bhandari
Antil, Neha
Katyan, Amit
author_facet Rajani, Heena
Grover, Shabnam Bhandari
Antil, Neha
Katyan, Amit
author_sort Rajani, Heena
collection PubMed
description We report the characteristic neuroimaging features of a rare metabolic leukodystrophy in an 8-year-old boy, born of consanguineous parenthood. The child presented with macrocrania, regression of milestones, and dystonia. The patient was referred for magnetic resonance imaging with a clinical diagnosis of postmeningitic hydrocephalus. Imaging revealed ventriculomegaly, diffuse brain atrophy, bilaterally symmetric widened sylvian fissure with temporal lobe hypoplasia, periventricular white-matter hyperintensities, and atrophy with hyperintensity in bilateral basal ganglia was also seen. These imaging features were signatory to arrive at a diagnosis of glutaric aciduria type 1. This disorder may mimic other neurological diseases such as postmeningitic hydrocephalus, which delays the diagnosis. Since early diagnosis and treatment can arrest progression, increased awareness about this condition among radiologists will certainly prevent erroneous diagnosis as had occurred in our patient.
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spelling pubmed-62512462018-12-13 A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus Rajani, Heena Grover, Shabnam Bhandari Antil, Neha Katyan, Amit J Clin Imaging Sci Case Report We report the characteristic neuroimaging features of a rare metabolic leukodystrophy in an 8-year-old boy, born of consanguineous parenthood. The child presented with macrocrania, regression of milestones, and dystonia. The patient was referred for magnetic resonance imaging with a clinical diagnosis of postmeningitic hydrocephalus. Imaging revealed ventriculomegaly, diffuse brain atrophy, bilaterally symmetric widened sylvian fissure with temporal lobe hypoplasia, periventricular white-matter hyperintensities, and atrophy with hyperintensity in bilateral basal ganglia was also seen. These imaging features were signatory to arrive at a diagnosis of glutaric aciduria type 1. This disorder may mimic other neurological diseases such as postmeningitic hydrocephalus, which delays the diagnosis. Since early diagnosis and treatment can arrest progression, increased awareness about this condition among radiologists will certainly prevent erroneous diagnosis as had occurred in our patient. Medknow Publications & Media Pvt Ltd 2018-11-15 /pmc/articles/PMC6251246/ /pubmed/30546934 http://dx.doi.org/10.4103/jcis.JCIS_56_18 Text en Copyright: © 2018 Journal of Clinical Imaging Science http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Rajani, Heena
Grover, Shabnam Bhandari
Antil, Neha
Katyan, Amit
A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title_full A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title_fullStr A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title_full_unstemmed A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title_short A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
title_sort case of mistaken identity: glutaric aciduria type i masquerading as postmeningitic hydrocephalus
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251246/
https://www.ncbi.nlm.nih.gov/pubmed/30546934
http://dx.doi.org/10.4103/jcis.JCIS_56_18
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