Introduction: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-alpha in blood and cerebrospinal fluid (CSF) form part of this syndrome.
Cases reports: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay. Mild choreic and dystonic movements, as well as progressive spasticity, were also observed in the girl. Extensive investigations revealed intracranial calcifications, mild CSF lymphocytosis in the boy, and raised IFN-a in blood and CSF in both patients.
Comments: Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection. Appropriate genetic counseling should be provided.