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Hemidystonia symptomatic of primary antiphospholipid syndrome in childhood
L Angelini1, V Rumi, N Nardocci
1Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
Insights
Primary antiphospholipid syndrome (PAPS) can cause childhood hemidystonia and focal cerebral ischemia. Anti-cardiolipin antibodies may link to these neurological events, suggesting PAPS as a key consideration.
Area of Science:
- Neurology
- Immunology
- Pediatrics
Background:
- Childhood neurological disorders require comprehensive etiological investigation.
- Primary antiphospholipid syndrome (PAPS) is an autoimmune condition characterized by antiphospholipid antibodies.
- The neurological manifestations of PAPS in children are not fully elucidated.
Observation:
- Three children presented with hemidystonia and demonstrated anti-cardiolipin (aCL) antibodies.
- Systemic lupus erythematosus was ruled out, leading to a diagnosis of PAPS.
- Magnetic resonance imaging (MRI) suggested immune-mediated thrombosis in the basal ganglia in two patients.
Findings:
- Anti-cardiolipin antibodies were associated with hemidystonia in pediatric patients.
- Evidence suggests a thrombotic mechanism involving the basal ganglia.
- White matter alterations in one patient may indicate demyelination due to antibody cross-reactivity.
Implications:
- PAPS should be considered in the differential diagnosis of childhood hemidystonia and focal cerebral ischemia.
- Early diagnosis and management of PAPS may prevent severe neurological sequelae.
- Further research is needed to understand the neuroinflammatory mechanisms in pediatric PAPS.
Abstract:
We report three children with hemidystonia in whom anti-cardiolipin (aCL) antibodies were demonstrated. Systemic lupus erythematosus was excluded on the basis of both clinical and serological criteria, and the diagnosis of primary antiphospholipid syndrome (PAPS) was made. In two cases, aCL antibodies could be causally related to a presumed immune-mediated thrombotic event involving the basal ganglia as shown by magnetic resonance imaging (MRI). In the remaining patient the finding of white matter alteration on NMR might be due to cross-reactivity of anti-phospholipid (aPL) antibodies with cerebral phospholipids, resulting in demyelination. We suggest that PAPS must always be considered when isolated or recurrent focal cerebral ischaemia, and particularly hemidystonia, occur in childhood.