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[The role of resistance to C active protein (R-APC) in a pediatric stroke]
E Cardo1, J Campistol, F Kirkham
1Servei de Neuropediatria, Hospital Clínic-Hospital San Joan de Déu, Universitat de Barcelona, España.
Insights
Activated protein C resistance (APC-resistance), a genetic mutation, was identified in a pediatric stroke patient. Early diagnosis and long-term monitoring are crucial for managing this thrombophilic condition.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Activated protein C resistance (APC-resistance) is a genetic thrombophilia linked to Factor V gene mutations.
- It is a significant risk factor for venous thrombosis.
Observation:
- A 6-year-old boy experienced acute neurological symptoms including headache, vomiting, and drowsiness, leading to diagnosis of cerebellar stroke and hydrocephalus.
- Initial symptoms resolved partially, but he later presented with transient ischemic attacks at age 13.
- Genetic testing revealed heterozygosity for the Factor V Leiden mutation, indicating APC-resistance.
Findings:
- The patient was diagnosed with cerebellar stroke associated with APC-resistance.
- Warfarin treatment led to symptom improvement.
Implications:
- Cerebellar stroke in children, though rare, is often underdiagnosed.
- Long-term follow-up and screening for thrombophilic factors like APC-resistance are recommended for pediatric stroke patients.
- Identifying genetic predispositions like Factor V Leiden mutation is vital for managing recurrent stroke risk.
Introduction:
Activated protein C resistance is a recently identified thrombophylic state which results from a mutation in the factor V gene and has been shown to be an important risk factor for peripheral venous thrombosis. We report a case of paediatric stroke in whom we have identified APC resistance.
Clinical Case:
A boy presented acutely at the age of 6 years with a severe right sided headache, vomiting, unsteadiness and drowsiness which worsened over a period of 40 hours. Prior to this episode, he was neurologically and developmentally normal except for occasional headaches. CT showed low attenuation in the left cerebellar hemisphere, and occipital lobe associated with acute hydrocephalus. Excision biopsy of the left cerebellar cortex revealed inflammation and possible infarction. Although he remained in a 'locked-in' state with a flaccid quadriparesis for six months, he improved and was left with a left side hemiplegia, multiple cranial nerve palsies and a visual field defect. He represented at the age of thirteen years with transient ischaemic attacks and was found be heterozygous for the factor V Leiden mutation. Since he has been warfarinised, his symptoms have improved.
Conclusions:
Although cerebellar stroke in childhood is rare, it has been underdiagnosed in the past. As recurrence is common, patients should be fully investigated and followed up long term. Screening for new factor such as APC-resistance is recommended.