Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis

PHM van der Valk, [No Value] Snoeck, LC Meiners*, [No Value] des Portes, J Chelly, JM Pinard, PF Ippel, O van Nieuwenhuizen

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

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    Abstract

    MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented.

    On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessment of cortical thickness.

    The younger sister presented with epileptic seizures at the age of five months and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and developmental delay. Their mother has only had one seizure-like episode at the age of 39. Her psychomotor development had been normal.

    Investigation of DNA samples of the three female family-members revealed a mutation in the X-linked doublecortin gene. Within families with band heterotopia, this gene has also been related to male family members with lissencephaly.

    Original languageEnglish
    Pages (from-to)155-160
    Number of pages6
    JournalNeuropediatrics
    Volume30
    Issue number3
    Publication statusPublished - Jun-1999

    Keywords

    • subcortical laminar heterotopia
    • band heterotopia
    • MRI
    • double cortin
    • lissencephaly
    • NEURONAL MIGRATION
    • BAND HETEROTOPIA
    • DOUBLE CORTEX
    • CORTICAL DYSPLASIA
    • GENE
    • DISORDERS

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