Aicardi-Goutieres syndrome; pseudo-TORCH syndrome; Cree encephalitis

Pathology

• encephalopathy
• cerebral atrophy
• leukodystrophy
• intracranial calcifications
• hepatosplenomegaly
• phenotypically similar to in utero viral infection

Genetics

• genetically heterogeneous
• autosomal recessive or autosomal dominant
• defects in TREX1 result in Aicardi-Goutieres syndrome 1
• defects in RNASEH2B result in Aicardi-Goutieres syndrome 2
• defects in RNASEH2A result in Aicardi-Goutieres syndrome 4

Clinical manifestations

• intermittent fever may erroneously suggest infection
• severe neurological dysfunction in infancy
  • progressive microcephaly
  • spasticity
  • dystonic posturin
  • profound psychomotor retardation
• death often occurs in early childhood

Laboratory

• cerebrospinal fluid (CSF)
  • chronic lymphocytosis
  • increased CSF alpha-interferon,
• negative serologic investigations for common prenatal infection.
• complete blood count: thrombocytopenia
• elevated hepatic transaminases

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• ribonuclease H2 subunit A (RNase H2 subunit A, ribonuclease HI subunit A, ribonuclease HI large subunit, RNase HI large subunit, RNase H35, Aicardi-Goutieres syndrome 4 protein, AGS4, RNASEH2A, RNASEHI, RNHIA)

Database

• OMIM: https://mirror.omim.org/entry/225750