Brain stem infarction in a 6-year-old boy with Down syndrome

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Arterial ischemic stroke (AIS) in children typically affects the lobar regions or basal ganglia.
• In patients with Down syndrome (DS) and antiphospholipid syndrome (APS), infarcts are often widespread and multifocal.

Observation:

• A 6-year-old boy with DS presented with ataxic gait and medial longitudinal fasciculus (MLF) symptoms.
• Neuroimaging identified a localized, isolated infarct in the midbrain, a previously unreported location for solitary brain stem infarction in pediatric DS.
• The patient had persistently elevated anticardiolipin antibody levels, bordering on antiphospholipid syndrome criteria, but lacked other characteristic complications.

Findings:

• This case represents the first documented instance of a solitary brain stem infarction in a child with Down syndrome.
• The infarct's location and isolated nature differ from typical AIS patterns in pediatric DS and APS.
• The findings suggest a potential, albeit rare, association between DS, elevated antiphospholipid antibodies, and specific brainstem vascular events.

Implications:

• Highlights the need for considering rare infarct locations in pediatric AIS, especially in children with genetic syndromes like DS.
• Suggests that even without meeting full APS criteria, elevated antiphospholipid antibodies may contribute to specific cerebrovascular events in DS.
• Underscores the importance of detailed neuroimaging and clinical correlation for accurate diagnosis and management of stroke in children with complex comorbidities.