Non-ketotic hyperglycinemia as the cause of infant seizures--the case study.
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.
Kaźmierczuk-Skubis
Monika E
ME
Department of Neonates and Infants' Pathology and Cardiology, Skubiszewski Medical University of Lublin.
Zatorska-Karpuś
Maria
M
Pac-Kozuchowska
Elzbieta
E
Bojko-Jaworska
Jolanta
J
Furmaga-Jabłońska
Wanda
W
D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005998:Glycine / Q000097:blood; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics
D005998:Glycine