Abstract
Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and a trisomy of 5p15.33 [46,XY,der(14)t(5;14)(p15.33;p11.2) mat]. These findings suggest a new PH locus along the telomeric end of chromosome 5p.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics
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Cerebral Ventricles / pathology*
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Child
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Choristoma / genetics*
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Choristoma / pathology
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Chromosome Disorders / pathology*
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Chromosomes, Human, Pair 5 / genetics
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Chromosomes, Human, Pair 5 / ultrastructure*
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Epilepsy, Complex Partial / etiology*
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Female
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Gene Duplication*
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Heart Defects, Congenital / genetics
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Humans
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In Situ Hybridization, Fluorescence
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Intellectual Disability / etiology*
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Magnetic Resonance Imaging
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Male
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Neurons / pathology*