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[Brain stem ischemia in a boy with resistance to C activated protein and elevated lipoprotein A]
M Sameiro-Barreirinho1, E Costa, A Moreira
1Servicio de Neuropediatría, Hospital Maria Pia, Porto, Portugal.
Insights
Activated protein C resistance, often due to the factor V Leiden mutation, can increase stroke risk in children, especially with coexisting factors like elevated lipoprotein (a). Early diagnosis and management are crucial.
Area of Science:
- Hematology
- Pediatric Neurology
- Genetics
Background:
- Activated protein C resistance is a common inherited blood disorder.
- It typically stems from the factor V Leiden mutation (Arg506Gln), impairing anticoagulant response.
Observation:
- A 6-year-old obese boy presented with acute hemiparesis and cerebral infarction.
- He was diagnosed with factor V Leiden heterozygosity and elevated lipoprotein (a).
- His mother also carried the factor V Leiden mutation.
Findings:
- Factor V Leiden mutation, while often asymptomatic alone, poses a risk for arterial thrombosis and stroke in children when combined with other factors.
- Elevated lipoprotein (a) was a significant co-existing risk factor in this case.
Implications:
- This case highlights factor V Leiden resistance as a potential risk factor for pediatric arterial stroke.
- Systematic evaluation for thrombotic risk factors is essential in children experiencing stroke.
Introduction:
Activated protein C resistance is the most common hereditary coagulation abnormality. In the majority of cases it results from a point mutation Arg506-->Gln of the factor V gene, and characterized by a poor anticoagulant response to activated protein C.
Clinical Case:
We report the clinical case of a 6-year-old obese boy, who presented with acute hemiparesis. A cerebral MRI revealed an area of infarction in the left hemiprotuberance. Further investigation identified activated protein C resistance (heterozygosity for factor V Leiden) and elevation in lipoprotein (a). His mother also had factor V Leiden mutation. Prophylaxis with acetylsalicylic acid was instituted with favorable evolution.
Conclusions:
This mutation, isolated, is usually asymptomatic, unless other risk factors coexist. Although venous thromboembolism seems to be the main clinical manifestation, recent reports consider that activated protein C resistance is also a risk factor for arterial thrombosis and stroke in children. We reinforce the need for systematic and thorough evaluation of etiology and risk factors in cases of stroke in children.