| X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. | |
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MedLine Citation:
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PMID: 11891829 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for a severe neurological disorder of neonatal onset in boys. Based on the observations of 3 new cases, we confirm the phenotype in affected boys, describe additional MRI findings, report the neuropathological data, and show that carrier females may exhibit neurological and magnetic resonance imaging abnormalities. In affected boys, consistent clinical features of X-linked lissencephaly with absent corpus callosum and ambiguous genitalia are intractable epilepsy of neonatal onset, severe hypotonia, poor responsiveness, genital abnormalities, and early death. On magnetic resonance imaging, 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. Neuropathological examination of the brain shows a trilayered cortex containing exclusively pyramidal neurons, a neuronal migration defect, a disorganization of the basal ganglia, and gliotic and spongy white matter. Finally, females related to affected boys may have mental retardation and epilepsy, and they often display agenesis of the corpus callosum. These findings expand the phenotype of X-linked lissencephaly with absent corpus callosum and ambiguous genitalia, may help in the detection of carrier females in affected families, and give arguments for a semidominant X-linked mode of inheritance. |
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Authors:
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Dominique Bonneau; Annick Toutain; Annie Laquerrière; Stéphane Marret; Pascale Saugier-Veber; Marie-Anne Barthez; Sophie Radi; Valérie Biran-Mucignat; Diana Rodriguez; Antoinette Gélot |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Annals of neurology Volume: 51 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 2002 Mar |
Date Detail:
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Created Date: 2002-03-13 Completed Date: 2002-03-28 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 340-9 Citation Subset: IM |
Affiliation:
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Service de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, Angers, France. dobonneau@chu-angers.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / abnormalities*, pathology Congenital Abnormalities / genetics Corpus Callosum / abnormalities Female Genitalia, Male / abnormalities*, pathology Humans Infant, Newborn Linkage (Genetics)* Magnetic Resonance Imaging Male Pedigree X Chromosome* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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