Aicardi-Goutieres Syndrome 5

Description

A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. 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.