Neurogenetic Disorders of the Brain

Several genetic disorders share clinical features with fetal and neonatal brain injury. Although individually rare, collectively they should be expected encounters in the neonatal intensive care setting. We aim to familiarize readers with select inherited conditions that may clinically mimic neonatal brain injury, most of which present with hypotonia. Others can result in central nervous system hemorrhage, findings similar to congenital infection, hydrocephalus, and central hypoventilation. Conditions included here do not ordinarily present with overt malformations or minor anomalies. Such conditions should be readily distinguishable from the sequelae of fetal and neonatal injury. Several inborn errors of metabolism have clinical findings similar to hypoxic–ischemic encephalopathy. This discussion begins with an overview of clinical genetics evaluation and its rationale. Then, the chapter is organized by clinical presentation: hypotonia, apparent congenital infection, intracranial hemorrhage, hydrocephalus, and central hypoventilation. Information regarding clinical findings, diagnostic approach, and management is provided.