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Aicardi-Goutieres syndrome; pseudo-TORCH syndrome; Cree encephalitis
Pathology:
1) encephalopathy
2) cerebral atrophy
3) leukodystrophy
4) intracranial calcifications
5) hepatosplenomegaly
6) phenotypically similar to in utero viral infection
Genetics:
1) genetically heterogeneous
2) autosomal recessive or autosomal dominant
3) defects in TREX1 result in Aicardi-Goutieres syndrome 1
3) defects in RNASEH2B result in Aicardi-Goutieres syndrome 2
4) defects in RNASEH2A result in Aicardi-Goutieres syndrome 4
Clinical manifestations:
1) intermittent fever may erroneously suggest infection
2) severe neurological dysfunction in infancy
a) progressive microcephaly
b) spasticity
c) dystonic posturin
d) profound psychomotor retardation
3) death often occurs in early childhood
Laboratory:
1) cerebrospinal fluid (CSF)
a) chronic lymphocytosis
b) increased CSF alpha-interferon,
2) negative serologic investigations for common prenatal infection.
3) complete blood count: thrombocytopenia
4) elevated hepatic transaminases
Related
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)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 225750
References
- UniProt :accession O75792
- OMIM :accession 225750