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Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndrome, characterized by primary megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly and polymicrogyria. Herein, we report a young male chi...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205759/ https://www.ncbi.nlm.nih.gov/pubmed/35733479 http://dx.doi.org/10.7759/cureus.25123 |
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author | Sarma, Kalyan Nayak, Manoj K Mishra, Biswamohan Gaikwad, Shailesh B |
author_facet | Sarma, Kalyan Nayak, Manoj K Mishra, Biswamohan Gaikwad, Shailesh B |
author_sort | Sarma, Kalyan |
collection | PubMed |
description | Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndrome, characterized by primary megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly and polymicrogyria. Herein, we report a young male child, who presented with complaints of increasing head size, delay in speech, and one episode of focal seizure with distinctive morphological and neuroradiological manifestations which led to the diagnosis of MCAP. We have also reviewed recently published literature and the various diagnostic criteria proposed by authors to achieve the early clinical diagnosis of these patients in the outpatient department. |
format | Online Article Text |
id | pubmed-9205759 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-92057592022-06-21 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder Sarma, Kalyan Nayak, Manoj K Mishra, Biswamohan Gaikwad, Shailesh B Cureus Genetics Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndrome, characterized by primary megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly and polymicrogyria. Herein, we report a young male child, who presented with complaints of increasing head size, delay in speech, and one episode of focal seizure with distinctive morphological and neuroradiological manifestations which led to the diagnosis of MCAP. We have also reviewed recently published literature and the various diagnostic criteria proposed by authors to achieve the early clinical diagnosis of these patients in the outpatient department. Cureus 2022-05-18 /pmc/articles/PMC9205759/ /pubmed/35733479 http://dx.doi.org/10.7759/cureus.25123 Text en Copyright © 2022, Sarma 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 | Genetics Sarma, Kalyan Nayak, Manoj K Mishra, Biswamohan Gaikwad, Shailesh B Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title | Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title_full | Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title_fullStr | Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title_full_unstemmed | Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title_short | Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder |
title_sort | megalencephaly-capillary malformation-polymicrogyria syndrome (mcap): a rare dynamic genetic disorder |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205759/ https://www.ncbi.nlm.nih.gov/pubmed/35733479 http://dx.doi.org/10.7759/cureus.25123 |
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