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Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide
Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107844/ https://www.ncbi.nlm.nih.gov/pubmed/34012862 http://dx.doi.org/10.21037/tp-20-335 |
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author | Biswas, Asthik Malhotra, Mukul Mankad, Kshitij Carney, Olivia D’Arco, Felice Muthusamy, Karthik Sudhakar, Sniya Valsa |
author_facet | Biswas, Asthik Malhotra, Mukul Mankad, Kshitij Carney, Olivia D’Arco, Felice Muthusamy, Karthik Sudhakar, Sniya Valsa |
author_sort | Biswas, Asthik |
collection | PubMed |
description | Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage. Whilst many of the neuroimaging features are nonspecific, certain disorders demonstrate specific patterns due to selective vulnerability of different structures to different insults. Along with clinical and biochemical profile, neuroimaging thus plays a pivotal role in differentiating metabolic disorders from other causes, in providing a differential diagnosis or suggesting a metabolic pathway derangement, and on occasion also helps make a specific diagnosis. This allows initiation of targeted metabolic and genetic work up and treatment. Familiarity with the clinical features, relevant biochemical features and neuroimaging findings of common metabolic disorders to facilitate a prompt diagnosis cannot thus be overemphasized. In this article, we describe the latest classification scheme, the clinical and biochemical clues and common radiological patterns. The diagnostic algorithm followed in daily practice after clinico-radiological phenotyping is alluded to and illustrated by clinical vignettes. Focused sections on neonatal metabolic disorders and mitochondrial disorders are also provided. The purpose of this article is to provide a brief overview and serve as a practical primer to clinical and radiological phenotypes and diagnostic aspects of IEM. |
format | Online Article Text |
id | pubmed-8107844 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-81078442021-05-18 Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide Biswas, Asthik Malhotra, Mukul Mankad, Kshitij Carney, Olivia D’Arco, Felice Muthusamy, Karthik Sudhakar, Sniya Valsa Transl Pediatr Review Article on Pediatric Neuroradiology for Trainees and Fellows: An Updated Practical Guide Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage. Whilst many of the neuroimaging features are nonspecific, certain disorders demonstrate specific patterns due to selective vulnerability of different structures to different insults. Along with clinical and biochemical profile, neuroimaging thus plays a pivotal role in differentiating metabolic disorders from other causes, in providing a differential diagnosis or suggesting a metabolic pathway derangement, and on occasion also helps make a specific diagnosis. This allows initiation of targeted metabolic and genetic work up and treatment. Familiarity with the clinical features, relevant biochemical features and neuroimaging findings of common metabolic disorders to facilitate a prompt diagnosis cannot thus be overemphasized. In this article, we describe the latest classification scheme, the clinical and biochemical clues and common radiological patterns. The diagnostic algorithm followed in daily practice after clinico-radiological phenotyping is alluded to and illustrated by clinical vignettes. Focused sections on neonatal metabolic disorders and mitochondrial disorders are also provided. The purpose of this article is to provide a brief overview and serve as a practical primer to clinical and radiological phenotypes and diagnostic aspects of IEM. AME Publishing Company 2021-04 /pmc/articles/PMC8107844/ /pubmed/34012862 http://dx.doi.org/10.21037/tp-20-335 Text en 2021 Translational Pediatrics. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Review Article on Pediatric Neuroradiology for Trainees and Fellows: An Updated Practical Guide Biswas, Asthik Malhotra, Mukul Mankad, Kshitij Carney, Olivia D’Arco, Felice Muthusamy, Karthik Sudhakar, Sniya Valsa Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title | Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title_full | Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title_fullStr | Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title_full_unstemmed | Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title_short | Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
title_sort | clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide |
topic | Review Article on Pediatric Neuroradiology for Trainees and Fellows: An Updated Practical Guide |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107844/ https://www.ncbi.nlm.nih.gov/pubmed/34012862 http://dx.doi.org/10.21037/tp-20-335 |
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