Aicardi-Goutieres syndrome 1
Definition A genetically heterogeneous condition (OMIM:225750) characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic CSF lymphocytosis, increased CSF alpha-IFN, and negative serologies for common prenatal infections.
Clinical findings Thrombocytopenia, hepatosplenomegaly, elevated hepatic transaminases, intermittent fever; severe neurologic dysfunction in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death is common in early childhood.
Molecular pathology Defects of TREX1, which encodes a nuclear protein with 3′ exonuclease activity, cause Aicardi-Goutieres syndrome 1.
Synonyms Cree encephalitis, encephalopathy—familial infantile—with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, pseudotoxoplasmosis syndrome