La sindrome di Aicardi-Goutières: Descrizione neuroradiologica di undici nuovi casi

Translated title of the contribution: Aicardi-Goutières syndrome: Neuroradiological description of eleven new cases

Carla Uggetti, E. Fazzi, S. D'Arrigo, F. Zappoli, G. Lanzi

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the clinical and neuroradiological features of eleven patients with Aicardi-Goutières syndrome, a rare and severe progressive encephalopathy with onset in the first year of life. The syndrome is autosomal recessive with varying clinical presentation and course. Our patients were studied by CT and MR imaging and findings were in agreement with literature reports. Calcification of the basal nuclei was found in 100% of cases and six patients presented a progressive increase in the number and size of the calcifications which were bilateral and largely symmetrical. White matter changes were seen in 76% of cases without a specific pattern of distribution. Early neuroradiological diagnosis of suspect Aicardi-Goutières syndrome is established by ruling out other pathological processes and the site and features of the calcifications rather than the white matter changes is important to then search for typical CSF changes.

Translated title of the contributionAicardi-Goutières syndrome: Neuroradiological description of eleven new cases
Original languageItalian
Pages (from-to)511-514
Number of pages4
JournalRivista di Neuroradiologia
Volume16
Issue number3
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Radiological and Ultrasound Technology

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