Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

S. Orcesi, A. Pessagno, R. Biancheri, R. La Piana, M. Mascaretti, A. Rossi, G. I. Rice, Y. J. Crow, E. Fazzi, E. Veneselli

Research output: Contribution to journalArticlepeer-review

Abstract

Aicardi-Goutières syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.

Original languageEnglish
Pages (from-to)408-411
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume12
Issue number5
DOIs
Publication statusPublished - Sep 2008

Keywords

  • Aicardi-Goutières syndrome
  • Basal ganglia calcifications
  • Leukodystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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