Journal
BRAIN & DEVELOPMENT
Volume 33, Issue 9, Pages 777-782Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2011.02.004
Keywords
Peroxisomal disorders; Infantile seizures; Epilepsy
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Peroxisomes are organelles responsible for multiple metabolic pathways including the biosynthesis of plasmalogens and the oxidation of branched-chain as well as very-long-chain fatty acids (VLCFAs). Peroxisomal disorders (PDs) are heterogeneous groups of diseases and affect many organs with varying degrees of involvement. Even pathogenetically distinct PDs share some common symptoms. However, several PDs have uniquely characteristic clinical findings. The durations of survival in PDs are also variable. Infants with PDs are usually presented with developmental delay, visual and hearing impairment. Generalized hypotonia is present in severe cases. Epileptic seizures are also a common characteristic of patients with certain PDs. Nonetheless, the classification and evolution of epilepsy in PDs have not been elucidated in detail. Here, we review the relevant literatures and provide an overview of PDs with particular emphasis on the characteristics of seizures in infants. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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