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Atypical case of Aicardi‐Goutières syndrome with late‐onset myoclonic status
Author(s) -
Berger Andrea,
Schroeter Christiane,
WiemerKruel Adelheid,
Strobl Karl,
Hoffmann Georg F.,
Rating Dietz,
Lebon Pierre,
Ernst JanPeter,
Wolf Nicole I.
Publication year - 2007
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2007.0096
Subject(s) - medicine , pediatrics , psychology , myoclonic epilepsy , epilepsy , psychiatry
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. [Published with video sequences]