Nonketotic Hyperglycinemia: Two Case Reports and Review.

We describe two neonates who presented with neonatal encephalopathy, apnea, and progressive lethargy. Increased CSF glycine level along with an elevated CSF to plasma glycine ratio was suggestive of classic NKH. Burst suppression EEG and agenesis of the corpus callosum were supportive findings. Evolution of the EEG patterns and course of the disease are discussed in detail. Transient phases of clinical stabilization and normalized plasma biochemical results may not necessarily reflect the actual encephalopathic process. Serial EEGs are helpful to assess the efficacy of treatment and to modify the therapeutic approach. PMID: 31433733 [PubMed - as supplied by publisher]
Source: The Neurodiagnostic Journal - Category: Neurology Tags: Neurodiagn J Source Type: research