Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
| Autor: | Steven Shinn-Forng Peng, Wang-Tso Lee, Chang-Chun Wu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Pathology Neurology Dermatology Disease Nervous System Malformations Magnetic resonance angiography 03 medical and health sciences 0302 clinical medicine Autoimmune Diseases of the Nervous System Arthropathy medicine Humans 030212 general & internal medicine Neuroradiology medicine.diagnostic_test business.industry General Medicine Arteries medicine.disease Phosphoproteins Psychiatry and Mental health Exodeoxyribonucleases Necrotizing enterocolitis Mutation Aicardi–Goutières syndrome Female Neurology (clinical) Neurosurgery business 030217 neurology & neurosurgery |
| Zdroj: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 41(11) |
| ISSN: | 1590-3478 |
| Popis: | We report a patient diagnosed with Aicardi-Goutieres syndrome (AGS) with homozygous TREX1 gene mutation. Her magnetic resonance angiography (MRA) showed intracerebral large artery disease, which was rarely reported in the past in TREX1 AGS patients. Her younger sister also had homozygous TREX1 gene mutation and died of necrotizing enterocolitis. Intracerebral large artery involvement has been seen as a particular feature of SAMHD1-related disease. Our patient also had arthropathy, which is a finding more commonly mentioned in SAMHD1-related diseases. The observations in our case may contribute to our understanding of the pathogenetic mechanism of TREX1 AGS, involving the intracerebral large arteries, arthropathy, and possibly the gastrointestinal tract. |
| Databáze: | OpenAIRE |
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