Aicardi-Goutieres syndrome 6

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Aicardi-Goutieres syndrome 62016-11-24T14:50:52+00:00

Aicardi-Goutieres syndrome 6

GENETICS

Definition A form (OMIM:615010) of Aicardi-Goutieres syndrome, a genetically heterogeneous disease.

Clinical findings Hepatosplenomegaly, intermittent fever, neurologic dysfunction manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

Imaging Cerebral atrophy, leukoencephalopathy, intracranial calcifications

Lab CSF lymphocytosis, increased CSF alpha-IFN, negative serologies for infection, elevated liver transaminases, thrombocytopenia.

Molecular pathology Defects of ADAR, which encodes adenosine deaminase—RNA-specific, the enzyme responsible for RNA editing by site-specific deamination of adenosines, converting adenosine to inosine (A-to-I RNA editing), cause Aicardi-Goutieres syndrome 6

References http://www.uniprot.org/uniprot/P55265 

http://www.omim.org/entry/615010  

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