臨床症例報告ジャーナル

Neonatal Non-Ketotic Hyperglycinaemia in a 2 Day Old Baby

Abstract

Ramesh Gowda and Vishwajit Hegde

Transient neonatal non-ketotic hyperglycinaemia (NKH) is a rare metabolic disorder in neonates which is indistinguishable from its classic form during the neonatal period. To our knowledge, only a few cases (about 14) of transient neonatal hyperglycinaemia have been reported. We report a 2 day old neonate who presented with clinical (seizure) and biochemical (raised CSF/Plasma glycine ratio) features of neonatal NKH. EEG on day 2 of life showed burst suppression pattern; hiccups noted during this EEG did not show any cortical origin except for concurrent artefacts. Biochemical features normalised by 4 weeks of age; EEG was encephalopathic at 4 and 17 week (current age). Infant currently has truncal hypotonia and developmental delay. There is no case report describing concurrent hiccups during EEG and timing of encephalopathy appearance on EEG, which in our case is 3-4 week of age.