Introduction

A number of genetic disorders share clinical features with fetal and neonatal brain injury. Although these conditions are individually rare, collectively they should be expected encounters in the neonatal intensive care setting. This chapter aims to familiarize the reader with select inherited conditions that may clinically mimic neonatal brain injury. The majority of genetic conditions with clinical resemblance to neonatal brain injury discussed here present with hypotonia. Other syndromes can result in central nervous system hemorrhage, findings similar to congenital infection, hydrocephalus, and central hypoventilation.

Conditions included in this chapter do not ordinarily present with 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 (HIE). These disorders are reviewed in Chapter 34.

The following discussion of inherited disorders with features similar to those of fetal and neonatal brain injury begins with an overview of the clinical genetics evaluation and its rationale. Subsequently, 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. A brief overview of management is also provided. References are included for additional reading.