Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up.

The main radiological features of Aicardi-Goutières syndrome include basal ganglia calcification, cerebral atrophy and white matter alterations. We present a case where progress of cerebral calcifications demonstrated on consecutive CT-scans later on was followed by a decrease. The MRI showed a progressive and significant loss of white matter and severe signal changes of the remaining myelin. The aetiology of the myelin changes and the transient worsening of the cerebral calcifications remains to be elucidated. It has previously been shown that the spinal fluid level of interferon-alpha decreases with age and we suggest that the biphasic course of the calcifications and the ventricular size as well as the clinical course shown in many patients with Aicardi-Goutières might favor a causal role of interferon-alpha in the disease leading to a transient microangiopathy.