Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters.
Cerebral thrombotic microangiopathy was found at autopsy in one of two sisters with Aicardi-Goutieres syndrome, whereas the other revealed increased serum levels of anticardiolipin IgG antibodies (measured only in the living sister); both typical features of systemic lupus erythematosus. These findings add support to the suggestion that Aicardi-Goutieres syndrome and systemic lupus erythematosus are closely related disorders in which dysregulated production of interferon-alpha might play a crucial role.
Rasmussen
M
M
Department of Pediatrics, Rikshospitalet, Oslo, Norway. magnhild.rasmussen@rikshospitalet.no
Skullerud
K
K
Bakke
S J
SJ
Lebon
P
P
Jahnsen
F L
FL
D017152:Antibodies, Antiphospholipid / Q000097:blood*; D016736:Antiphospholipid Syndrome / Q000276:immunology / Q000503:physiopathology; D001284:Atrophy / Q000276:immunology / Q000473:pathology / Q000503:physiopathology; D001480:Basal Ganglia Diseases / Q000150:complications* / Q000276:immunology* / Q000473:pathology / Q000532:radiotherapy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D020767:Intracranial Thrombosis / Q000150:complications* / Q000276:immunology* / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D011859:Radiography / Q000379:methods
D017152:Antibodies, Antiphospholipid