A genetically heterogeneous autosomal recessive encephalopathy (Cree encephalitis, pseudo-TORCH syndrome, pseudotoxoplasmosis syndrome) phenotypically similar to in utero viral infection. Type 1 is caused by mutation in the TREX1 gene encoding a 3′-to-5′ exonuclease, types 2, 3, and 4 by mutations in the genes for subunits B, C, and A of ribonuclease H2 (RNAseH2). Type 5 is an autosomal dominant form also caused by mutation in the TREX1 gene. Aicardi's syndrome is a distinct disorder in which there is agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities.
Subjects: Medicine and Health.