Cerebral Thrombotic Microangiopathy and Antiphospholipid Antibodies in Aicardi-Goutieres Syndrome - Report of Two Sisters

Abstract

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-α might play a crucial role.

Key words

Aicardi-Goutieres syndrome - thrombotic microangiopathy - antiphospholipid antibodies - systemic lupus erythematosus - interferon

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