Subcortical Laminar Heterotopia in Two Sisters and Their Mother: MRI, Clinical Findings and Pathogenesis
| Autor: | Linda C. Meiners, I. Snoeck, JM Pinard, Jamel Chelly, V. des Portes, O. van Nieuwenhuizen, P. F. Ippel, A. C. B. Peters, P. H. M. van der Valk |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Doublecortin Domain Proteins Male Pathology medicine.medical_specialty Lissencephaly Choristoma Grey matter Nerve Fibers Myelinated Cerebral Ventricles Central nervous system disease Epilepsy Epilepsy Complex Partial medicine Humans Child Cerebral Cortex Neurons Psychomotor learning Brain Diseases medicine.diagnostic_test biology business.industry Genetic Carrier Screening Neuropeptides Infant Magnetic resonance imaging General Medicine Cortical dysplasia medicine.disease Magnetic Resonance Imaging Doublecortin medicine.anatomical_structure Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) business Microtubule-Associated Proteins Spasms Infantile |
| Zdroj: | Neuropediatrics. 30:155-160 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-2007-973483 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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