Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.
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Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. / Wolf, Nicole I; Rahman, Shamima; Schmitt, Bernhard; Taanman, Jan-Willem; Duncan, Andrew J; Harting, Inga; Wohlrab, Gabriele; Ebinger, Friedrich; Rating, Dietz; Bast, Thomas.
In: EPILEPSIA, Vol. 50, No. 6, 6, 2009, p. 1596-1607.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.
AU - Wolf, Nicole I
AU - Rahman, Shamima
AU - Schmitt, Bernhard
AU - Taanman, Jan-Willem
AU - Duncan, Andrew J
AU - Harting, Inga
AU - Wohlrab, Gabriele
AU - Ebinger, Friedrich
AU - Rating, Dietz
AU - Bast, Thomas
PY - 2009
Y1 - 2009
N2 - 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: We present five patients with Alpers' disease caused by mutations in POLG1. Age of onset ranged from 7 months to 10 years. Three of the five children died after 3 to 12 months after onset of status epilepticus. Two of these had liver failure associated with use of valproic acid; liver transplantation in one child did not prevent a fatal neurologic outcome. 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.
AB - 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: We present five patients with Alpers' disease caused by mutations in POLG1. Age of onset ranged from 7 months to 10 years. Three of the five children died after 3 to 12 months after onset of status epilepticus. Two of these had liver failure associated with use of valproic acid; liver transplantation in one child did not prevent a fatal neurologic outcome. 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.
KW - Humans
KW - Male
KW - Female
KW - Child
KW - Electroencephalography methods
KW - Infant
KW - Retrospective Studies
KW - DNA-Directed DNA Polymerase genetics
KW - Diffuse Cerebral Sclerosis of Schilder complications
KW - Magnetic Resonance Imaging methods
KW - Magnetic Resonance Spectroscopy methods
KW - Mutation genetics
KW - Status Epilepticus complications
KW - Tritium diagnostic use
KW - Humans
KW - Male
KW - Female
KW - Child
KW - Electroencephalography methods
KW - Infant
KW - Retrospective Studies
KW - DNA-Directed DNA Polymerase genetics
KW - Diffuse Cerebral Sclerosis of Schilder complications
KW - Magnetic Resonance Imaging methods
KW - Magnetic Resonance Spectroscopy methods
KW - Mutation genetics
KW - Status Epilepticus complications
KW - Tritium diagnostic use
M3 - SCORING: Zeitschriftenaufsatz
VL - 50
SP - 1596
EP - 1607
JO - EPILEPSIA
JF - EPILEPSIA
SN - 0013-9580
IS - 6
M1 - 6
ER -
