From the Research
Neuroimaging should be performed regularly in pediatric patients with DADA2, typically every 6-12 months, with more frequent imaging for symptomatic patients, as supported by the most recent study 1 which highlights the importance of TNF blockade in primary stroke prevention. The frequency of neuroimaging in pediatric DADA2 patients is crucial due to the high prevalence of stroke and other neurological manifestations.
- Initial baseline MRI with MR angiography is recommended at diagnosis, followed by surveillance imaging even in asymptomatic patients due to the risk of silent cerebrovascular events.
- Children with DADA2 have a high prevalence of stroke and other neurological manifestations, with studies showing that up to 50-75% of patients experience stroke, often lacunar infarcts in the deep brain structures, as reported in 2.
- The neuroimaging protocol should include brain MRI with diffusion-weighted imaging and MR angiography to detect both ischemic lesions and vascular abnormalities.
- This regular monitoring is crucial because early detection of vascular changes can prompt treatment adjustments, such as intensification of anti-TNF therapy (like etanercept or adalimumab), which has shown effectiveness in preventing stroke recurrence in these patients, as demonstrated in 3 and 4.
- Additionally, neuroimaging findings should be correlated with clinical neurological examinations and developmental assessments to provide comprehensive neurological care for these children.
- A study from 5 also emphasizes the importance of considering DADA2 in the differential diagnosis of young patients presenting with ischemic and/or hemorrhagic lesions located in the brainstem and deep gray matter, especially if they have a family history or additional systemic abnormalities.