[Brain stem ischemia in a boy with resistance to C activated protein and elevated lipoprotein A].
BACKGROUND
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.


METHODS
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.
Sameiro-Barreirinho
M
M
Servicio de Neuropediatría, Hospital Maria Pia, Porto, Portugal.
Costa
E
E
Moreira
A
A
Barbot
J
J
Barbot
C
C
Santos
M
M
D020016:Activated Protein C Resistance / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001241:Aspirin / Q000627:therapeutic use; D002545:Brain Ischemia / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D001933:Brain Stem / Q000098:blood supply* / Q000473:pathology*; D002648:Child; D005165:Factor V / Q000235:genetics; D006801:Humans; D017270:Lipoprotein(a) / Q000097:blood*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree
D000894:Anti-Inflammatory Agents, Non-Steroidal; D017270:Lipoprotein(a); D005165:Factor V; D001241:Aspirin
Isquemia del tronco cerebral en niño con resistencia a la proteína C activada y a la lipoproteína (a) elevada.