A male infant who presented with neonatal asphyxia began to exhibit infantile spasms at three months of age. His seizures were refractory to conventional antiepileptic dings including valproic acid, pyridoxal phosphate, zonisamide, clonazepam and adrenocorticotrophic hormone (ACTH)-Zn. Immediately following re-administration of valproic acid, infantile spasms were exacerbated and novel complex partial seizures with oral automatism and pedaling behaviors appeared. An electro-encephalogram showed more severe hypsarrhythmia and novel focal polyspike bursts in the left mid-temporal region. High levels of glycine were detected in the cerebrospinal fluid (CSF) and plasma, and the activity of the glycine cleavage system was partially reduced to 18.0 % (−1.5 SD) in a [1-(13) C] glycine breath test. Therefore, non-ketotic hyperglycinemia was diagnosed. Administration of valproic acid exacerbated the basal infantile spasms and induced novel complex partial seizures, suggesting that the patienthad distinctive clinical seizures due to non-ketotic hyperglycinemia.
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