[PCL-4] Epilepsy in Neurometabolic diseases
Seizures are a common symptom in a great numbers of metabolic disorders that occurring mainly in infancy and childhood period. In these disorders seizures may occur only until adequate treatment is initiated or as a consequence of acute metabolic decompensation. Seizures can be the main manifestation of the disease and can lead to antiepileptic drug-resistant epilepsy or Status epilepticus.
Epilepsy in inborn errors of metabolism can be classified in different ways
Seizures can be due to lack of energy, intoxication, impaired neuronal function in storage disorders, disturbances of neurotransmitter systems with excess of excitation or lack of inhibition, or associated malformations of the brain. Other approaches are according to clinical presentation, seizure semiology and EEG findings
Classification of epilepsies of metabolic origin according to age at onset
Neonatal period: Hypoglycaemia, pyridoxine-dependency, nonketotic hyperglycinaemia, organic acidurias, urea cycle defects, neonatal adrenoleukodystrophy, Zellweger syndrome, folinic acid-responsive seizures, holocarboxylase synthase deficiency, molybdenum cofactor deficiency, sulphite oxidase deficiency .Infancy: Hypoglycaemia, GLUT1-deficiency, creatine deficiency, biotinidase deficiency, amino acidopathies, organic acidurias, CGD, pyridoxine dependency, infantile form of NCL. Toddlers: Late infantile NCL, mitochondrial disorders and lysosomal storage disorders.School age: Mitochondrial disorders, juvenile form of NCL.
Conclusion: Epilepsies in children with neurometabolic diseases, depends on the age group .Neonates should all undergo a therapeutic trial with pyridoxine/pyridoxal phosphate, even if seizures are thought to be due to sepsis/perinatal asphyxia. If seizures are resistant to conventional AEDs, folinic acid should be tried. In infants, early myoclonic encephalopathy is often thought to be due to a Neurometabolic disorder.
Epilepsy in inborn errors of metabolism can be classified in different ways
Seizures can be due to lack of energy, intoxication, impaired neuronal function in storage disorders, disturbances of neurotransmitter systems with excess of excitation or lack of inhibition, or associated malformations of the brain. Other approaches are according to clinical presentation, seizure semiology and EEG findings
Classification of epilepsies of metabolic origin according to age at onset
Neonatal period: Hypoglycaemia, pyridoxine-dependency, nonketotic hyperglycinaemia, organic acidurias, urea cycle defects, neonatal adrenoleukodystrophy, Zellweger syndrome, folinic acid-responsive seizures, holocarboxylase synthase deficiency, molybdenum cofactor deficiency, sulphite oxidase deficiency .Infancy: Hypoglycaemia, GLUT1-deficiency, creatine deficiency, biotinidase deficiency, amino acidopathies, organic acidurias, CGD, pyridoxine dependency, infantile form of NCL. Toddlers: Late infantile NCL, mitochondrial disorders and lysosomal storage disorders.School age: Mitochondrial disorders, juvenile form of NCL.
Conclusion: Epilepsies in children with neurometabolic diseases, depends on the age group .Neonates should all undergo a therapeutic trial with pyridoxine/pyridoxal phosphate, even if seizures are thought to be due to sepsis/perinatal asphyxia. If seizures are resistant to conventional AEDs, folinic acid should be tried. In infants, early myoclonic encephalopathy is often thought to be due to a Neurometabolic disorder.