title: Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase.
abstract: Neonatal metabolic encephalopathy may be related to electrolyte imbalances, endocrine dysfunction, or inborn errors of metabolism. The metabolic encephalopathies are always a diagnostic challenge to the neonatologist and pediatricians. This is more so because the signs and symptoms of are nonspecific and are often similar to those with other neonatal emergencies. Clinical suspicion of neonatal encephalopathy should be considered in any infant exhibiting an abnormal level of consciousness, seizures, tone and reflex abnormalities, apnea, aspiration, and feeding difficulties. A definitive diagnosis is frequently not possible during the neonatal care unit or emergency department. But the proper initial management based on the probable diagnosis can be life-saving or reduce neurologic sequelae. In the case of inborn errors of metabolism, imaging may play a vital role either in limiting the differential diagnosis or yet times pointing towards the specific diagnosis or error of metabolism. We report DWI-ADC changes on MRI in the acute stages of neonatal nonketotic hyperglycinemia (NKH) due to sequence changes in GLDC gene.
authors.affiliation: Department of Radiology and Neurology, Penn State University and Hershey Medical Center, Hershey, USA, skanekar@hmc.psu.edu.
authors.forename: Sangam
authors.initials: S
authors.lastname: Kanekar
authors.forename: Debra
authors.initials: D
authors.lastname: Byler
mesh_terms: D001921:Brain / Q000473:pathology*; D050841:Glycine Dehydrogenase (Decarboxylating) / Q000235:genetics*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics* / Q000473:pathology*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male
chemical_list: D050841:Glycine Dehydrogenase (Decarboxylating)