Gepubliceerd in:

01-02-2013

Pyridoxin dependent epilepsy: Clinical features and progressive serial MRI abnormalities

Auteurs: J.M.F. Niermeijer, N.G. Abeling, J.H. Koelman, B.T. Poll-The

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Pyridoxin dependent epilepsy (PDE) is a treatable metabolic autosomal recessive epileptic encephalopathy that is characterised by a therapeutic response to vitamin B6. It is diagnosed by a pyridoxin trial and confirmed by analysis of concentrations of pipecolic acid in CSF and blood and α-AASA (alfa-aminoadipic semialdehyde) in urine and further confirmed by genetic testing. PDE is caused by a mutation in the antiquitin gene (ALDH7A1) Brain MRI abnormalities consist of generalised cerebral atrophy, corpus callosum agenesis, and nonspecific white matter abnormalities. However, little is known about the evolution of the radiological abnormalities in time. …

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