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Diagnostic Approach to Macrocephaly in Children
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 a...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795981/ https://www.ncbi.nlm.nih.gov/pubmed/35096710 http://dx.doi.org/10.3389/fped.2021.794069 |
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author | Accogli, Andrea Geraldo, Ana Filipa Piccolo, Gianluca Riva, Antonella Scala, Marcello Balagura, Ganna Salpietro, Vincenzo Madia, Francesca Maghnie, Mohamad Zara, Federico Striano, Pasquale Tortora, Domenico Severino, Mariasavina Capra, Valeria |
author_facet | Accogli, Andrea Geraldo, Ana Filipa Piccolo, Gianluca Riva, Antonella Scala, Marcello Balagura, Ganna Salpietro, Vincenzo Madia, Francesca Maghnie, Mohamad Zara, Federico Striano, Pasquale Tortora, Domenico Severino, Mariasavina Capra, Valeria |
author_sort | Accogli, Andrea |
collection | PubMed |
description | Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly. |
format | Online Article Text |
id | pubmed-8795981 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-87959812022-01-29 Diagnostic Approach to Macrocephaly in Children Accogli, Andrea Geraldo, Ana Filipa Piccolo, Gianluca Riva, Antonella Scala, Marcello Balagura, Ganna Salpietro, Vincenzo Madia, Francesca Maghnie, Mohamad Zara, Federico Striano, Pasquale Tortora, Domenico Severino, Mariasavina Capra, Valeria Front Pediatr Pediatrics Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly. Frontiers Media S.A. 2022-01-14 /pmc/articles/PMC8795981/ /pubmed/35096710 http://dx.doi.org/10.3389/fped.2021.794069 Text en Copyright © 2022 Accogli, Geraldo, Piccolo, Riva, Scala, Balagura, Salpietro, Madia, Maghnie, Zara, Striano, Tortora, Severino and Capra. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Accogli, Andrea Geraldo, Ana Filipa Piccolo, Gianluca Riva, Antonella Scala, Marcello Balagura, Ganna Salpietro, Vincenzo Madia, Francesca Maghnie, Mohamad Zara, Federico Striano, Pasquale Tortora, Domenico Severino, Mariasavina Capra, Valeria Diagnostic Approach to Macrocephaly in Children |
title | Diagnostic Approach to Macrocephaly in Children |
title_full | Diagnostic Approach to Macrocephaly in Children |
title_fullStr | Diagnostic Approach to Macrocephaly in Children |
title_full_unstemmed | Diagnostic Approach to Macrocephaly in Children |
title_short | Diagnostic Approach to Macrocephaly in Children |
title_sort | diagnostic approach to macrocephaly in children |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795981/ https://www.ncbi.nlm.nih.gov/pubmed/35096710 http://dx.doi.org/10.3389/fped.2021.794069 |
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