Síndrome de Aicardi-Goutières: aportación de dos nuevas observaciones
- Manuel Oscar Blanco Barca
- Carmen Curros Novo
- A. Álvarez Moreno
- A. Alonso Martín
- Jesús Eirís Puñal
- Manuel Castro Gago
ISSN: 1695-4033, 1696-4608
Year of publication: 2005
Volume: 62
Issue: 2
Pages: 166-170
Type: Article
More publications in: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )
Abstract
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)-α 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-α 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.