Journal: Child Neurology Open
Article Title: The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency
doi: 10.1177/2329048X20985179
Figure Lengend Snippet: Clinical protocol used for the management of neonatal hyperammonemia by the neurology consult service. Abbreviations: Magnetic Resonance Spectrometry (MRS), Time Echo (TE), Diffusion Tensor Imaging (DTI), Spoiled Gradient Recall (SPGR), Arterial Spin Labeling (ASL), video Electroencephalography (vEEG), Head Ultrasound (HUS), continuous Near-Infrared Spectrometry (cNIRS), Plasma Amino Acids (PAA), Urine Organic Acid (UOA), Continuous Renal Replacement Therapy (CRRT).
Article Snippet: We present a case of neonatal-onset carbamoyl phosphate synthetase 1 (CPS1) deficiency co-managed between Genetics, Neonatal Neurocritical Care, and Neonatology after instating a neurodiagnostic pathway including prolonged continuous EEG monitoring and advance MR imaging to examine potential early proximal biomarkers of brain injury in UCD.
Techniques: Diffusion-based Assay, Imaging, Labeling, Clinical Proteomics