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

MR imaging, clinical data and underlying pathogenesis of subcortical lamina r heterotopia (SCLH), also known as band heterotopia, in two sisters and th eir mother are presented. On MR imaging a different degree of SCLH was found in all three affected fa mily-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessmen t of cortical thickness. The younger sister presented with epileptic seizures at the age of five mon ths and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and devel opmental delay. Their mother has only had one seizure-like episode at the a ge 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 heter otopia, this gene has also been related to male family members with lissenc ephaly.