Neuropathology of Inherited Metabolic Disorders Associated with Seizures

  • Dimitri P. Agamanolis
Reference work entry

Short Description

Myoclonic and generalized seizures are a prominent component or a presenting manifestation of inherited metabolic disorders (IMDs). IMDs affect children primarily but may also present in adolescence and adult age. Most are autosomal recessive and a few are X-linked. Seizures, in these disorders, are persistent or episodic, associated with metabolic decompensation. They show a poor or atypical response to antiseizure medications some of which are contraindicated in certain IMDs (Sedel et al. 2007). Seizures are usually accompanied by progressive neurological deterioration and, in some IMDs, by skeletal dysplasia and organ dysfunction. Although individually rare, together IMDs account for a significant proportion of symptomatic epilepsy, that is, epilepsy caused by a defined structural lesion or metabolic abnormality. The combination of epilepsy with neurological regression should prompt investigation for IMDs. This chapter summarizes the pathology of lysosomal,...


Gauche Disease Lysosomal Storage Disorder Neuronal Ceroid Lipofuscinoses Metachromatic Leukodystrophy Peroxisomal Disorder 
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Copyright information

© Springer-Verlag London Limited 2010

Authors and Affiliations

  • Dimitri P. Agamanolis
    • 1
  1. 1.Children’s Hospital Medical Center of Akron, Northeastern Ohio Universities College of Medicine (NEOUCOM)AkronUSA

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