Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
Journal
Neurological Sciences
Date Issued
2020
Author(s)
Abstract
We report a patient diagnosed with Aicardi-Gouti?res 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. ? 2020, Fondazione Societ? Italiana di Neurologia.
SDGs
Other Subjects
steroid; exodeoxyribonuclease; phosphoprotein; Aicardi Goutieres syndrome; arthritis; Article; autoimmune thyroiditis; basal ganglion; brain atrophy; brain blood flow; brain calcification; case report; cerebral artery disease; cesarean section; chilblain; child; clinical article; developmental delay; dystonia; echography; female; follow up; gene; gene mutation; glaucoma; hip dysplasia; homozygote; human; hypothyroidism; infantile spasm; insulin dependent diabetes mellitus; irritability; magnetic resonance angiography; microcephaly; mouth ulcer; muscle hypotonia; neuroimaging; neurologic examination; nuclear magnetic resonance imaging; physical examination; preschool child; single photon emission computed tomography-computed tomography; spasticity; steroid therapy; susceptibility weighted imaging; temporal lobe; TREX1 gene; white matter lesion; whole exome sequencing; artery; complication; diagnostic imaging; genetics; mutation; nervous system malformation; neurologic disease; Arteries; Autoimmune Diseases of the Nervous System; Exodeoxyribonucleases; Female; Humans; Mutation; Nervous System Malformations; Phosphoproteins
Type
journal article