Aicardi-Goutières syndrom
Autosomal recessiv
Aicardi-Goutières syndrom (AGS) er en arvelig, subakutt encefalopati preget av kalkavleiring i basalgangliene, leukodystrofi og lymfocytose i cerebrospinalvæsken (CSF).
Også kjent som
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
Inkluderer 11 beslektede undertyper ↓Skjul undertyper ↑
- 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
