Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.

Autor: Burns W; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH. Electronic address: William.burns@nationwidechildrens.org., Chaudhari BP; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Neonatology, Nationwide Children's Hospital, Columbus, OH; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Haffner DN; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Neurology, Nationwide Children's Hospital, Columbus, OH.
Jazyk: angličtina
Zdroj: Seminars in pediatric neurology [Semin Pediatr Neurol] 2022 Jul; Vol. 42, pp. 100972. Date of Electronic Publication: 2022 Apr 18.
DOI: 10.1016/j.spen.2022.100972
Abstrakt: Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment.
(Copyright © 2022 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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