Subcortical band heterotopia detected on repeated MRI after myelination in a female patient with somatic mosaicism of DCX

Le résumé fourni par la source

Subcortical band heterotopia (SBH) represents a neuronal migration disorder most commonly associated with doublecortin (DCX) mutations. In this study, we report the case of a 5-year-old female patient with infantile epileptic spasms syndrome caused by the somatic mosaicism of a DCX variant. The patient developed epileptic spasms at the age of 5 months, and her electroencephalography indicated modified hypsarrhythmia. Initial magnetic resonance imaging (MRI) was interpreted as normal. ACTH therapy rapidly controlled the seizures, and the patient remained seizure-free with preserved development. However, repeated MRI at the age of 4 years and 4 months revealed bilateral SBH. Genetic testing identified a somatic mosaic DCX variant (NM_017815.3:c.668G>A, p.(Gly223Glu)). Retrospective review of the initial MRI demonstrated subtle occipital abnormalities. Repeated MRI after myelination should be considered in patients with infantile epileptic spasms syndrome, even when initial MRI findings are interpreted as normal.

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