Conditions / Syndrome
Aicardi-Goutieres syndrome
info · Syndrome · ICD-10: G31.8
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serolo
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Signs and symptoms
- Inability to walk
- Dystonia
- Short stature
- Chronic CSF lymphocytosis
- Microcephaly
- Absent speech
- CSF lymphocytic pleiocytosis
- Global developmental delay
- Cerebellar calcifications
- Petechiae
Also known as: AGS; Cree encephalitis