Multiple cerebral cavernous haemangiomas in an infant

Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion mutation. This case demonstrates the importan...

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Autores principales: Verma, Poonam, Saleem, Rashid, Harijan, Pooja, Hussain, Nahin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611910/
https://www.ncbi.nlm.nih.gov/pubmed/23560008
http://dx.doi.org/10.4103/1817-1745.106479
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author Verma, Poonam
Saleem, Rashid
Harijan, Pooja
Hussain, Nahin
author_facet Verma, Poonam
Saleem, Rashid
Harijan, Pooja
Hussain, Nahin
author_sort Verma, Poonam
collection PubMed
description Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion mutation. This case demonstrates the importance of molecular genetic analysis in cases of multiple CCM.
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spelling pubmed-36119102013-04-04 Multiple cerebral cavernous haemangiomas in an infant Verma, Poonam Saleem, Rashid Harijan, Pooja Hussain, Nahin J Pediatr Neurosci Case Report Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion mutation. This case demonstrates the importance of molecular genetic analysis in cases of multiple CCM. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3611910/ /pubmed/23560008 http://dx.doi.org/10.4103/1817-1745.106479 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Verma, Poonam
Saleem, Rashid
Harijan, Pooja
Hussain, Nahin
Multiple cerebral cavernous haemangiomas in an infant
title Multiple cerebral cavernous haemangiomas in an infant
title_full Multiple cerebral cavernous haemangiomas in an infant
title_fullStr Multiple cerebral cavernous haemangiomas in an infant
title_full_unstemmed Multiple cerebral cavernous haemangiomas in an infant
title_short Multiple cerebral cavernous haemangiomas in an infant
title_sort multiple cerebral cavernous haemangiomas in an infant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611910/
https://www.ncbi.nlm.nih.gov/pubmed/23560008
http://dx.doi.org/10.4103/1817-1745.106479
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