학술논문
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.
Document Type
Article
Author
Source
Subject
*INFANTILE spasms
*LUPUS erythematosus
*HEPATIC encephalopathy
*SPASTICITY
*MOYAMOYA disease
*AICARDI-Goutieres syndrome
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Language
ISSN
0961-2033
Abstract
We report a female with infantile onset of systemic lupus erythematosus secondary to C1q deficiency, in whom we identified a novel homozygous mutation in C1qB. The patient developed a progressive encephalopathy associated with spasticity, and suffered several arterial ischaemic strokes. Cerebral imaging demonstrated acquired intracranial calcification and a cerebral vasculopathy reminiscent of moyamoya. This case demonstrates overlap with some features of Aicardi-Goutières syndrome which, like C1q deficiency, is a monogenic cause of inflammation involving dysregulation of the innate immune system and stimulation of a type I interferon response. [ABSTRACT FROM AUTHOR]