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Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status.
- Source :
-
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2007 Jun; Vol. 9 (2), pp. 140-4. - Publication Year :
- 2007
-
Abstract
- 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].
- Subjects :
- Adult
Basal Ganglia Diseases epidemiology
Brain Diseases epidemiology
Calcinosis diagnosis
Calcinosis epidemiology
Calcinosis pathology
Comorbidity
Epilepsies, Myoclonic epidemiology
Epilepsies, Partial epidemiology
Humans
Lymphocytosis cerebrospinal fluid
Lymphocytosis epidemiology
Male
Neuroprotective Agents therapeutic use
Piracetam therapeutic use
Syndrome
Treatment Outcome
Basal Ganglia Diseases diagnosis
Brain Diseases diagnosis
Epilepsies, Myoclonic diagnosis
Epilepsies, Partial diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1294-9361
- Volume :
- 9
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Epileptic disorders : international epilepsy journal with videotape
- Publication Type :
- Academic Journal
- Accession number :
- 17525022
- Full Text :
- https://doi.org/10.1684/epd.2007.0096