title: Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
abstract: Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.
authors.affiliation: Départment de Neuropédiatrie, Hôpital Saint Vincent de Paul, Paris, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Pinard
authors.forename: J
authors.initials: J
authors.lastname: Motte
authors.forename: C
authors.initials: C
authors.lastname: Chiron
authors.forename: R
authors.initials: R
authors.lastname: Brian
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: O
authors.initials: O
authors.lastname: Dulac
mesh_terms: D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome