Abstract
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and generalized epilepsies which in particular include myoclonic seizures. There are varying degrees of treatability, but the outcome if untreated can often be catastrophic. The importance of early recognition cannot be overemphasized. This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category.
Highlights
Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle
The epileptologist may view these from the viewpoint of syndromic phenotypes such as early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and myoclonic epilepsies
This paper provides an overview of inborn metabolic errors associated with epileptic encephalopathy, summarizing key clinical features and underlying biochemistry, salient electrophysiological and neuroradiological findings, and primary treatment options where appropriate
Summary
Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle. A subset of these disorders can lead to the development of epileptic encephalopathy, that is, a brain disturbance due to highly active clinical or electrographic ictal activity. The epileptologist may view these from the viewpoint of syndromic phenotypes such as early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and myoclonic epilepsies. They have various degrees of treatability at present, with some requiring prompt diagnosis and intervention to avoid otherwise catastrophic outcomes. Careful consideration of metabolic disorders in patients presenting with epileptic encephalopathy is warranted, and to this end, we hope a review may be helpful. Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. Large molecule diseases cover defects in glycosylation, lysosomal and peroxisomal function, and leukodystrophies
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