X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG i...
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Mashhad University of Medical Sciences
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doaj-6492c3477930433a81d0d9da789c7c1b2021-08-02T19:44:49ZengMashhad University of Medical SciencesIranian Journal of Neonatology2251-75102322-21582016-03-017175796671X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case ReportAlireza Jashni Motlagh0Yadollah Zahedpasha1Mousa Ahmadpourkacho2Assistant Professor, School of Medical Sciences, Alborz University of Medical Sciences, Karaj, IranProfessor, School of Medical Sciences, Babol University of Medical Sciences, Babol, IranAssociate Professor, School of Medical Sciences, Babol University of Medical Sciences, Babol, IranBackground: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia, and complete agenesis of the corpus callosum are consistently found on magnetic resonance imaging (MRI). Females related to affected boys may have epilepsy and mental retardation or display agenesis of corpus collosum on MRI. These findings can indicate an X-linked semi-dominant inheritance. Case presentation: The patient was a one-day-old term neonate admitted to our neonatal intensive care unit due to refractory seizure. He was the second child of the family, born to non-consanguineous and healthy parents. His midface was slightly hypoplastic with long and smooth philtrum; the neonate had ambiguous genitalia, as well. Hormonal investigation demonstrated elevated serum 17OH-progesterone, dehydroepiandrosterone sulfate, and testosterone levels. Chromosomal analysis showed a normal male karyotype (46, XY). Brain computed tomography scan showed a typical pattern of lissencephaly with a posterior-to-anterior gradient of severity consisting of frontal pachygyria, posterior agyria, and absence of corpus collosumhttp://ijn.mums.ac.ir/article_6671_d28934e723c1bcbd18ab102d778a93e3.pdfAmbiguous genitaliaCorpus callosumLissencephalySeizure |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alireza Jashni Motlagh Yadollah Zahedpasha Mousa Ahmadpourkacho |
spellingShingle |
Alireza Jashni Motlagh Yadollah Zahedpasha Mousa Ahmadpourkacho X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report Iranian Journal of Neonatology Ambiguous genitalia Corpus callosum Lissencephaly Seizure |
author_facet |
Alireza Jashni Motlagh Yadollah Zahedpasha Mousa Ahmadpourkacho |
author_sort |
Alireza Jashni Motlagh |
title |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
title_short |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
title_full |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
title_fullStr |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
title_full_unstemmed |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
title_sort |
x-linked lissencephaly with absent corpus callosum and ambiguous genitalia: a case report |
publisher |
Mashhad University of Medical Sciences |
series |
Iranian Journal of Neonatology |
issn |
2251-7510 2322-2158 |
publishDate |
2016-03-01 |
description |
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia, and complete agenesis of the corpus callosum are consistently found on magnetic resonance imaging (MRI). Females related to affected boys may have epilepsy and mental retardation or display agenesis of corpus collosum on MRI. These findings can indicate an X-linked semi-dominant inheritance.
Case presentation: The patient was a one-day-old term neonate admitted to our neonatal intensive care unit due to refractory seizure. He was the second child of the family, born to non-consanguineous and healthy parents. His midface was slightly hypoplastic with long and smooth philtrum; the neonate had ambiguous genitalia, as well. Hormonal investigation demonstrated elevated serum 17OH-progesterone, dehydroepiandrosterone sulfate, and testosterone levels. Chromosomal analysis showed a normal male karyotype (46, XY). Brain computed tomography scan showed a typical pattern of lissencephaly with a posterior-to-anterior gradient of severity consisting of frontal pachygyria, posterior agyria, and absence of corpus collosum |
topic |
Ambiguous genitalia Corpus callosum Lissencephaly Seizure |
url |
http://ijn.mums.ac.ir/article_6671_d28934e723c1bcbd18ab102d778a93e3.pdf |
work_keys_str_mv |
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1721227498505633792 |