Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status

Andrea Berger*, Christiane Schroeter, Adelheid Wiemer-Kruel, Karl Strobl, Georg F. Hoffmann, Dietz Rating, Pierre Lebon, Jan Peter Ernst, Nicole I. Wolf

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Aicardi-Goutières syndrome (AGS) is a rare, progressive, autosomal recessive encephalopathy characterised by basal ganglia calcifications, chronic CSF lymphocytosis, and negative serological investigations for the common prenatal infections. The clinical profile is characterised by acquired microcephaly, mild to severe cognitive delay and dystonia. Epilepsy is usually not prominent. We report on a 19-year-old patient with an atypical clinical course, characterized by a relatively benign presentation at onset. Epilepsy with complex-focal seizures, possibly with a visual aura and sometimes with secondary generalization, started at the age of nine years. Clinical deterioration occurred later, and at the age of 17 years he experienced severe, generalized, myoclonic attacks lasting hours, which were partly controlled by the administration of piracetam.

Original languageEnglish
Pages (from-to)140-144
Number of pages5
JournalEpileptic Disorders
Issue number2
Publication statusPublished - Jun 2007

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