Abstract
Aicardi-Goutières syndrome (AGS) is a rare infantile encephalopathy characterized
by basal ganglia calcifications, leukodystrophy, chronic pleocytosis and elevated
levels of interferon-alpha in cerebrospinal fluid. AGS is a clinically and genetically
heterogeneous syndrome. We report an early onset case of AGS. Consanguinity, similar
picture in the family and course suggested a familial metabolic encephalopathy. Extended
basal ganglia calcifications and leukodystrophic changes on cerebral imaging, cerebrospinal
fluid lymphocytosis and high interferon-alpha level allowed to diagnose AGS. We reviewed
the literature and discussed the pathophysiology, differential diagnosis and treatment
of this disorder.
Keywords
Infantile encephalopathy - microcephaly - basal ganglia calcifications - leukodystrophy
- CSF lymphocytosis
