The purpose of this poster is to present a rare case of subcortical band heterotopia (SBH) in a male patient with mosaic doublecortin (DCX) gene mutation. SBH, or double cortex syndrome, is a neuronal migration disorder, which occurs very rarely in males [1]. The syndrome is usually associated with mutations in the DCX (Xp22.3-q23) gene, and much less frequently in the LIS1 (17p13.3) gene [1]. Typical magnetic resonance imaging (MRI) findings include bands of grey matter situated between the lateral ventricles and the cerebral cortex...

This is a case of a 31-year-old male with refractory multifocal epilepsy with onset of seizures at age 12. Absence, focal tonic, atonic and tonic-clonic seizure types were prominent features of his initial presentation to hospital. Video electroencephalogram (EEG) demonstrated multifocal seizure foci. MRI showed bilateral band heterotopia affecting all supratentorial lobes. Subsequent positron emission tomography (PET) scan showed uptake in the double cortex and an ictal single-photon emission computed tomography (SPECT) demonstrated no clear focal uptake of tracer. Patient had exome sequencing which revelated...

Variants in DCX can cause changes to structure of the brain. The gene helps ensure neurons migrate to their proper locations in the foetal brain during embryogenesis. Typically, the changes are different in males compared to females because the DCX gene is carried on the X chromosome. Males generally present with thick lissencephaly/agyria/pachygyria, anterior to posterior gradient and other cerebral imaging abnormalities. Early and profound intellectual impairment (cognitive and language), refractory epileptic seizures, developmental delay etc. Females have a markedly milder phenotype. As this variant...

Although an exceedingly rare finding, neuroradiologists should be aware of SBH when evaluating patients with seizure disorders. Imaging plays a crucial role in diagnosis of this disease.

D’Agostino MD, Bernasconi A, Das S et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2022 November 11; Volume 125(No 11): p2507-2522. Hashimoto R, Seki T, Takuma Y, Suzuki N. The ‘double cortex’ syndrome on MRI. Brain Dev. 1993 January; Volume 15(No 1): p57-59. Kuzniecky RI, Jackson GD. Magnetic resonance in epilepsy: neuroimaging techniques. 2nd ed. Amsterdam: Elsevier; 2005.