Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Biswas, Asthik, Malhotra, Mukul, Mankad, Kshitij, Carney, Olivia, D’Arco, Felice, Muthusamy, Karthik, Sudhakar, Sniya Valsa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
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
_version_ 1783690023579680768
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
work_keys_str_mv AT biswasasthik clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT malhotramukul clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT mankadkshitij clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT carneyolivia clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT darcofelice clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT muthusamykarthik clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide
AT sudhakarsniyavalsa clinicoradiologicalphenotypinganddiagnosticpathwaysinchildhoodneurometabolicdisordersapracticalintroductoryguide