Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy
| Autor: | M Dexter, Jacqueline Dalby-Payne, Yanick J. Crow, Meredith Wilson, Christopher Troedson, Gillian I. Rice, Melanie Wong, Russell C. Dale |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Pathology
medicine.medical_specialty Adolescent Inflammation Nervous System Malformations Brain Ischemia 03 medical and health sciences Autoimmune Diseases of the Nervous System 0302 clinical medicine Rheumatology C1q Deficiency medicine Humans Lupus Erythematosus Systemic Spasticity Progressive encephalopathy Stroke 030203 arthritis & rheumatology Systemic lupus erythematosus business.industry Complement C1q Calcinosis medicine.disease 3. Good health Mutation Aicardi–Goutières syndrome Female Moyamoya Disease medicine.symptom business Intracranial calcification 030217 neurology & neurosurgery |
| Zdroj: | Lupus; Vol 22 |
| ISSN: | 1477-0962 |
| DOI: | 10.1177/0961203313486950 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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