title: [Aicardi-Goutières syndrome: report of two new cases].
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departamento de Pediatría, Servicio de Neuropediatría, Hospital Clinico Universitario, Universidad de Santiago de Compostela, Spain.
authors.forename: M O
authors.initials: MO
authors.lastname: Blanco-Barca
authors.forename: M C
authors.initials: MC
authors.lastname: Curros Novo
authors.forename: A
authors.initials: A
authors.lastname: Alvarez Moreno
authors.forename: A
authors.initials: A
authors.lastname: Alonso Martín
authors.forename: J María
authors.initials: JM
authors.lastname: Eirís-Puñal
authors.forename: M
authors.initials: M
authors.lastname: Castro-Gago
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis*; D005116:Extrapyramidal Tracts; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*; D011596:Psychomotor Disorders / Q000175:diagnosis*; D011712:Pyramidal Tracts; D013118:Spinal Cord Diseases / Q000175:diagnosis*; D013577:Syndrome