Aicardi-goutieres syndrome type 5

A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.

Disease Alternative Name

encephalopathy
familial infantile
with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
pseudotoxoplasmosis syndrome
aicardi-goutieres syndrome 1
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