Sindromul Aicardi-Goutieres
Autozomal recesivă
Sindromul Aicardi-Goutieres (AGS) este o encefalopatie ereditară, subacută, caracterizată prin asocierea dintre calcificarea ganglionilor bazali, leucodistrofie și limfocitoză a lichidului cefalorahidian (LCR).
Denumită și
AGS; Aicardi Goutieres syndrome; Aicardi-Goutières Syndrome; Cree encephalitis; encephalopathy with basal ganglia calcification; encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis; pseudotoxoplasmosis syndrome
Include 11 subtipuri înrudite ↓Ascunde subtipurile ↑
- Aicardi-Goutieres syndrome 1
- Aicardi-Goutieres syndrome 2
- Aicardi-Goutieres syndrome 3
- Aicardi-Goutieres syndrome 4
- Aicardi-Goutieres syndrome 5
- Aicardi-Goutieres syndrome 6
- Aicardi-Goutieres syndrome 7
- Aicardi-Goutieres syndrome 8
- Aicardi-Goutieres syndrome 9
- basal ganglia calcification, idiopathic, childhood-onset
- TREX1-related autosomal dominant Aicardi-Goutieres syndrome
