Non-ketotic hyperglycinemia as the cause of infant seizures--the case study
Kaźmierczuk-Skubis, M.E.; Zatorska-Karpuś, M.; Pac-Kozuchowska, E.; Bojko-Jaworska, J.; Furmaga-Jabłońska, W.
Annales Universitatis Mariae Curie-Sklodowska. Sectio D Medicina 59(1): 237-241
2004
ISSN/ISBN: 0066-2240 PMID: 16145987 Document Number: 577826
Non-ketotic hyperglycinemia is a disease that causes serious functional disorders of CNS and the degradation of its structure. The frequency of recognition of this disease is disproportionally low with relation to the number of unexplained deaths of the neonates. We present a case of a neonate in whom the seizures occurred during the first 24 hours of life. A detailed subsequent diagnosis of the seizures by excluding inflammatory reasons, electrolyte disorders and primary neurological reasons was done. The final diagnosis of NKH was based on high concentration of glycine in the blood serum, craniospinal fluid and elevated value of Scriver index, lack of ketosis, changes in EEG tests, (initially the record of "discharge-silence" type, and next the record of hypsarrhythmia type), hypotony of the muscular system and imaging tests of CNS. The taken up treatment decreased the intensity and the frequency of seizure attacks, caused the increase of muscular tone and of motor activity of the child.