Abstract
We report on two children from our hospital: a girl, born in 1998, first child of a consangious (first grade cousins) Sicilian couple, and a boy, first child of non related healthy German parents, born in 2003. Both children presented with thrombocytopenia, cerebral calcifications, pleocytosis in CSF in early infancy but were negative for intrauterine infections. Episodes of high temperature and transient liver enzyme elevations occured. Both had a severe encephalopathy with white matter alterations, aquired brain atrophy and spastics. Since CSF interferone-alpha IFNa) was elevated the diagnosis of Aicardi Goutières syndrome was suspected and proven by molecular analysis.
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