Neuropathology of Inherited Metabolic Disorders Associated with Seizures
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,...
KeywordsGauche Disease Lysosomal Storage Disorder Neuronal Ceroid Lipofuscinoses Metachromatic Leukodystrophy Peroxisomal Disorder
- Hays AP, Oskoui M, Tanji K et al. (2006) Mitochondrial neurology II: myopathies and peripheral neuropathies. In: DiMauro S, Hirano M, Schon EA (eds) Mitochondrial medicine, Informa Healthcare, London, pp 45–74Google Scholar
- Hirano M, Kaufmann P, De Vivo DC, Tanji K (2006) Mitochondrial neurology I: encephalopathies. In: DiMauro S, Hirano M, Schon EA (eds) Mitochondrial medicine, Informa Healthcare, London, pp 27–44Google Scholar
- Rho JM, Stafstrom CE (2006) Neurophysiology of epilepsy. In: Swaiman KF, Ashwal S, Ferriero DM (eds) Pediatric neurology. Principles and practice. Mosby-Elsevier, Philadelphia, PA, pp 991–1007Google Scholar