Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome

X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period...

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Autores principales: Verma, Anjali, Jain, Rashika, Babbar, Neha, Kumar, Sudeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586584/
https://www.ncbi.nlm.nih.gov/pubmed/33110888
http://dx.doi.org/10.4103/jfmpc.jfmpc_922_20
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author Verma, Anjali
Jain, Rashika
Babbar, Neha
Kumar, Sudeep
author_facet Verma, Anjali
Jain, Rashika
Babbar, Neha
Kumar, Sudeep
author_sort Verma, Anjali
collection PubMed
description X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period with refractory seizures and ambiguous genitalia. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly and agenesis of corpus callosum. Our index case survived for only 25 days. Early suspicion, genetic counselling, and prenatal radiological work-up of such cases will reduce further burden on the family.
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spelling pubmed-75865842020-10-26 Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome Verma, Anjali Jain, Rashika Babbar, Neha Kumar, Sudeep J Family Med Prim Care Case Report X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period with refractory seizures and ambiguous genitalia. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly and agenesis of corpus callosum. Our index case survived for only 25 days. Early suspicion, genetic counselling, and prenatal radiological work-up of such cases will reduce further burden on the family. Wolters Kluwer - Medknow 2020-08-25 /pmc/articles/PMC7586584/ /pubmed/33110888 http://dx.doi.org/10.4103/jfmpc.jfmpc_922_20 Text en Copyright: © 2020 Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Verma, Anjali
Jain, Rashika
Babbar, Neha
Kumar, Sudeep
Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title_full Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title_fullStr Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title_full_unstemmed Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title_short Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
title_sort newborn with ambigous genitalia and refractory convulsions: case report of xlag syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586584/
https://www.ncbi.nlm.nih.gov/pubmed/33110888
http://dx.doi.org/10.4103/jfmpc.jfmpc_922_20
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