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
Results
- 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 is mosaic (having two disintct neuronal populations - one expressing wild type DCX and the other expressing the mutated gene), it must have arisen in the patient for the first time (sporadic), rather than being inherited from a parent.
- It is possible there is a recurrence risk to children (where daughters may inherit the variant, but none of the sons will).
- No treatment beyond standard therapy for epilepsy.