"Evidence suggests that familial systemic lupus erythematosus and microcephaly-intracranial calcification syndrome (MICS) (also known as pseudo-TORCH syndrome or Baraitser-Reardon syndrome) are in fact phenotypic variants of Aicardi-Goutières syndrome 1."
"band-like calcification polymicrogyria (BLC-PMG; pseudo-TORCH syndrome)"
"Although no established treatment exists, there is evidence that immune modulation (e.g. corticosteroids) during the active phase of the disease may be of benefit 1. Unfortunately, judging the efficacy of these interventions is difficult10. In addition, the use of JAK inhibitors like baricitinib have been shown to block the downstream effects of interferon activation and improve symptoms 6,7. Clinical trials on the long-term efficacy and safety of JAK inhibitors in AGS patients are ongoing."
"Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterised by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TORCH infections."
"Evidence suggests that familial systemic lupus erythematosus and microcephaly-intracranial calcification syndrome (MICS) (also known as pseudo-TORCH syndrome or Baraitser-Reardon syndrome) are in fact phenotypic variants of Aicardi-Goutières syndrome 1."
"In Aicardi-Goutières syndrome mutations occur that result in impaired degradation of cellular nucleic acid debris. Accumulation of this debris eventually triggers an interferon-mediated immune response, with ensuing damage to various tissues similar to that seen in antenatal infections (e.g. TORCH) and autoimmune diseases (e.g. systemic lupus erythematosus) 2."
"Although no established treatment exists, there is evidence that immune modulation (e.g. corticosteroids) during the active phase of the disease may be of benefit 1. Unfortunately, judging the efficacy of these interventions is difficult10. In addition, the use of JAK inhibitors like baricitinib have been shown to block the downstream effects of interferon activation and improve symptoms 6,7. Clinical trials on the long-term efficacy and safety of JAK inhibitors in AGS patients are ongoing."
"Although no established treatment exists, there is evidence that immune modulation (e.g. corticosteroids) during the active phase of the disease may be of benefit 1. Unfortunately, judging the efficacy of these interventions is difficult10. In addition, the use of JAK inhibitors like baricitinib have been shown to block the downstream effects of interferon activation and improve symptoms 6,7. Clinical trials on the long-term efficacy and safety of JAK inhibitors in AGS patients are ongoing."
"Although no established treatment exists, there is evidence that immune modulation (e.g. corticosteroids) during the active phase of the disease may be of benefit 1. Unfortunately, judging the efficacy of these interventions is difficult10. In addition, the use of JAK inhibitors like baricitinib have been shown to block the downstream effects of interferon activation and improve symptoms 6,7. Clinical trials on the long-term efficacy and safety of JAK inhibitors in AGS patients are ongoing."
"antenatal/perinatal infections (e.g. TORCH infections)"
"band-like calcification polymicrogyria (BLC-PMG; pseudo-TORCH syndrome)"
"band-like calcification polymicrogyria (BLC-PMG; pseudo-TORCH syndrome)"
"Evidence suggests that familial systemic lupus erythematosus and microcephaly-intracranial calcification syndrome (MICS) (also known as pseudo-TORCH syndrome or Baraitser-Reardon syndrome) are in fact phenotypic variants of Aicardi-Goutières syndrome 1."
"Evidence suggests that familial systemic lupus erythematosus and microcephaly-intracranial calcification syndrome (MICS) (also known as pseudo-TORCH syndrome or Baraitser-Reardon syndrome) are in fact phenotypic variants of Aicardi-Goutières syndrome 1."
"Note: Aicardi-Goutières syndrome is distinct from Aicardi syndrome."
"autosomal recessive: RNASEH2A, RNASEH2B (most common overall), RNASEH2C, SAMHD1, LSM11, RNU7-1"
"autosomal recessive or dominant: ADAR, TREX1 (common)"
"autosomal dominant: IFIH1"
Expected headings
"Differential diagnoses"
"Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterised by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TORCH infections."
"CT shows calcification of the basal ganglia, thalamus and paraventricular white matter 1. The morphology of the calcification varies greatly from large "chunks" of dense calcification to tiny punctate specks 1,2."
"Arteriopathy is also a prominent feature of SAMHD1 mutations with aneurysms, stenoses and moyamoya pattern encountered 1."
"Aicardi-Goutières syndrome is rare and usually inherited in an autosomal recessive pattern. Penetrance is variable as is the age of clinical onset; most occur within the first year of life (3-7 months is typical) although delayed onset in later childhood is reported 2."
"Aicardi-Goutières syndrome is classified as an interferonopathy; these are a group of autoinflammatory diseases characterised by mutations affecting interferon signalling pathways 3."
"band-like calcification polymicrogyria (BLC-PMG; pseudo-TORCH syndrome)"
"cerebroretinal microangiopathy with calcifications and cysts (CRMCC; Coats plus)"
"As the disease progresses, additional symptoms may include but are not limited to glaucoma, hypothyroidism, pulmonary hypertension, immune hepatitis, myopathy, and arthropathy 8,9."
"History and etymology"
"antenatal/perinatal infections (e.g. TORCH infections)"
"mitochondrial cytopathies (e.g. Leigh syndrome)"