Abstract | PURPOSE: Refractory convulsive status epilepticus in infancy and childhood is a rare emergency situation. Metabolic disorders frequently underlie this condition, in particular Alpers' disease caused by POLG1 mutations. Status epilepticus may be the first symptom. A pathognomonic electroencephalography (EEG) signature may facilitate diagnosis of Alpers' disease and allow timely avoidance of valproic acid, which is contraindicated in this disorder because it may trigger fatal liver failure. PATIENTS: RESULTS: Convulsive status epilepticus was the first obvious sign of Alpers' disease in all children. All had focal clonic and complex- focal seizures; four of them developed epilepsia partialis continua. In four children, initial EEG showed unilateral occipital rhythmic high-amplitude delta with superimposed (poly)spikes (RHADS). Magnetic resonance imaging (MRI) revealed cortical and thalamic involvement in all, although there were only discrete abnormalities in one child. Metabolic investigations remained normal in three children. CONCLUSION:
Alpers' disease is an important differential diagnosis in childhood refractory convulsive status epilepticus. Its EEG hallmark of RHADS is important for timely diagnosis, management, and counseling.
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Authors | Nicole I Wolf, Shamima Rahman, Bernhard Schmitt, Jan-Willem Taanman, Andrew J Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, Dietz Rating, Thomas Bast |
Journal | Epilepsia
(Epilepsia)
Vol. 50
Issue 6
Pg. 1596-607
(Jun 2009)
ISSN: 1528-1167 [Electronic] United States |
PMID | 19054397
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Tritium
- DNA Polymerase gamma
- DNA-Directed DNA Polymerase
- POLG protein, human
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Topics |
- Child
- DNA Polymerase gamma
- DNA-Directed DNA Polymerase
(genetics)
- Diffuse Cerebral Sclerosis of Schilder
(complications, genetics, pathology)
- Electroencephalography
(methods)
- Female
- Humans
- Infant
- Magnetic Resonance Imaging
(methods)
- Magnetic Resonance Spectroscopy
(methods)
- Male
- Mutation
(genetics)
- Retrospective Studies
- Status Epilepticus
(complications, genetics, pathology)
- Tritium
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