2022 ASM / R-0222
Subcortical band heterotopia in a male with mosaic DCX gene mutation: imaging findings
Keywords:
Neuroradiology brain, MR, PET, SPECT, Education, Seizure disorders
Authors:
P. Sharma, A. Coulthard
DOI:
10.26044/ranzcr2022/R-0222
Methods and materials
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 some (but not all) of his cells had a pathogenic variant (mutation) in the DCX gene (somatic mosaicism).