Revista de neurologia · 1999
[Brain stem ischemia in a boy with resistance to C activated protein and elevated lipoprotein A].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Sameiro-Barreirinho M, Costa E, Moreira A, Barbot J, Barbot C, Santos M
Аннотация
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.
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.