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Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay

Pediatric mastocytosis is a relatively rare disorder and most commonly occurs as isolated cutaneous lesions. Although autism spectrum disorders have been reported to be associated with mastocytosis, no clear association between mastocytosis and motor and intellectual delay has been reported with the...

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Autores principales: Watanabe, Yusuke, Morichi, Shinichiro, Takamatsu, Tomoko, Ito, Tomonobu, Yamanaka, Gaku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981483/
https://www.ncbi.nlm.nih.gov/pubmed/36874330
http://dx.doi.org/10.7759/cureus.34536
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author Watanabe, Yusuke
Morichi, Shinichiro
Takamatsu, Tomoko
Ito, Tomonobu
Yamanaka, Gaku
author_facet Watanabe, Yusuke
Morichi, Shinichiro
Takamatsu, Tomoko
Ito, Tomonobu
Yamanaka, Gaku
author_sort Watanabe, Yusuke
collection PubMed
description Pediatric mastocytosis is a relatively rare disorder and most commonly occurs as isolated cutaneous lesions. Although autism spectrum disorders have been reported to be associated with mastocytosis, no clear association between mastocytosis and motor and intellectual delay has been reported with the exception of the case that detected de novo monoallelic mutations in the GNB1 gene. Herein, we describe the case of a Japanese male pediatric patient aged two years and six months who had cutaneous mastocytosis accompanied by motor and intellectual delay without the presence of GNB1 mutation.
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spelling pubmed-99814832023-03-04 Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay Watanabe, Yusuke Morichi, Shinichiro Takamatsu, Tomoko Ito, Tomonobu Yamanaka, Gaku Cureus Neurology Pediatric mastocytosis is a relatively rare disorder and most commonly occurs as isolated cutaneous lesions. Although autism spectrum disorders have been reported to be associated with mastocytosis, no clear association between mastocytosis and motor and intellectual delay has been reported with the exception of the case that detected de novo monoallelic mutations in the GNB1 gene. Herein, we describe the case of a Japanese male pediatric patient aged two years and six months who had cutaneous mastocytosis accompanied by motor and intellectual delay without the presence of GNB1 mutation. Cureus 2023-02-02 /pmc/articles/PMC9981483/ /pubmed/36874330 http://dx.doi.org/10.7759/cureus.34536 Text en Copyright © 2023, Watanabe et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurology
Watanabe, Yusuke
Morichi, Shinichiro
Takamatsu, Tomoko
Ito, Tomonobu
Yamanaka, Gaku
Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title_full Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title_fullStr Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title_full_unstemmed Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title_short Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay
title_sort pediatric cutaneous mastocytosis with motor and intellectual delay
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981483/
https://www.ncbi.nlm.nih.gov/pubmed/36874330
http://dx.doi.org/10.7759/cureus.34536
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