Brain MRI abnormalities in patients with infantile spasms and Down syndrome

Infantile spasms (IS) are the most frequent epilepsy syndrome in children with Down syndrome (DS). In DS, cellular (synaptic/dendritic changes) and molecular mechanisms are believed to contribute to epileptogenesis, rather than gross structural anomalies. Neuroimaging is a standard part of the evaluation of newly diagnosed infantile epilepsy including IS and, in this age group, often requires sedation. It is unclear if neuroimaging provides additional clinically useful etiologic information in IS associated with DS.

We conducted a retrospective chart review and detailed neuroimaging review in 36 patients (24 males) with IS and DS, cared for at Boston Children's Hospital.

Incidental imaging abnormalities were common (42%), but potentially relevant etiologic abnormalities were rare (16%). Structural congenital or acquired abnormalities were associated with ongoing antiepileptic drug (AED) use (p = 0.02), as well as refractory epilepsy (p = 0.04). However, neuroimaging did not alter the treatment plan for any of these patients.

Clinicians must carefully weigh the benefits and risks of neuroimaging in infants with DS and IS, as neuroimaging did not lead to any changes in clinical management in our patients but may offer information regarding prognosis.