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16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image ex...

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Detalles Bibliográficos
Autores principales: Nascimento, Lívia Polisseni Cotta, Mergener, Rafaella, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Catao, Juliana Rossi, da Silveira, Ana Kalise Böttcher, Dorfman, Luiza Emy, Graziadio, Carla, Zen, Paulo Ricardo Gazzola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/
https://www.ncbi.nlm.nih.gov/pubmed/37628634
http://dx.doi.org/10.3390/genes14081583
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author Nascimento, Lívia Polisseni Cotta
Mergener, Rafaella
Nunes, Marcela Rodrigues
Muniz, Victória Feitosa
Catao, Juliana Rossi
da Silveira, Ana Kalise Böttcher
Dorfman, Luiza Emy
Graziadio, Carla
Zen, Paulo Ricardo Gazzola
author_facet Nascimento, Lívia Polisseni Cotta
Mergener, Rafaella
Nunes, Marcela Rodrigues
Muniz, Victória Feitosa
Catao, Juliana Rossi
da Silveira, Ana Kalise Böttcher
Dorfman, Luiza Emy
Graziadio, Carla
Zen, Paulo Ricardo Gazzola
author_sort Nascimento, Lívia Polisseni Cotta
collection PubMed
description We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.
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spelling pubmed-104543442023-08-26 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? Nascimento, Lívia Polisseni Cotta Mergener, Rafaella Nunes, Marcela Rodrigues Muniz, Victória Feitosa Catao, Juliana Rossi da Silveira, Ana Kalise Böttcher Dorfman, Luiza Emy Graziadio, Carla Zen, Paulo Ricardo Gazzola Genes (Basel) Article We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations. MDPI 2023-08-03 /pmc/articles/PMC10454344/ /pubmed/37628634 http://dx.doi.org/10.3390/genes14081583 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Nascimento, Lívia Polisseni Cotta
Mergener, Rafaella
Nunes, Marcela Rodrigues
Muniz, Victória Feitosa
Catao, Juliana Rossi
da Silveira, Ana Kalise Böttcher
Dorfman, Luiza Emy
Graziadio, Carla
Zen, Paulo Ricardo Gazzola
16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title_full 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title_fullStr 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title_full_unstemmed 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title_short 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
title_sort 16p11.2 microduplication syndrome with increased fluid in the cisterna: coincidence or phenotype extension?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/
https://www.ncbi.nlm.nih.gov/pubmed/37628634
http://dx.doi.org/10.3390/genes14081583
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