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Muscle Involvement and Restricted Disorders

Muscle, the final component of the motor system, is the site of abnormalities with those essential clinical manifestations of hypotonia and weakness that unify the other disorders of the motor system (see Chapter 36 ). In this chapter, we deal with important myopathic disorders in the neonatal patient. In addition, certain restricted disorders of the motor system are reviewed. LEVEL OF THE MUSCLE Disorders of muscle…

Levels Above Lower Motor Neuron to Neuromuscular Junction

An effective means of attaining an understanding of the major disorders of the neonatal motor system is to organize the approach to these disorders on the basis of the major affected anatomical site within the motor system. Thus in this chapter and in Chapter 37 , we review disorders of the neonatal motor system according to the following specific anatomical levels: levels above the lower motor…

Arthrogryposis Multiplex Congenita

Arthrogryposis multiplex congenita refers to a syndrome, apparent at birth, characterized by fixed positions of multiple joints and an associated limitation of movement. The term arthrogryposis is derived from the Greek and literally means bent joint . Arthrogryposis multiplex congenita is a syndrome , not a disease entity, and is discussed in this section because, albeit frequently syndromic (associated with other anomalies), it can also be…

Evaluation, Special Studies

Neuromuscular disorders may cause dramatic disability in the neonatal period. The dominant features of these disorders are muscle weakness and hypotonia. In this context, I consider neuromuscular disorders those that predominantly involve the motor system, from its origins in the cerebral cortex to its termination in the muscle. This and the next three chapters are concerned with neuromuscular disorders. In this chapter, the motor system is…

Degenerative Disorders of the Newborn

Certain degenerative disorders of the developing nervous system may be clinically manifested in the neonatal period. Because most of these disorders are related to a disturbance in the metabolism of a lipid or some other compound, they are discussed most appropriately in this series of chapters concerned with metabolic disorders. Indeed, clinical overlap of some of these degenerative disorders with some of the metabolic disorders discussed…

Organic Acids

A series of metabolic disorders with prominent neurological accompaniments and serious deleterious effects on the developing central nervous system has been described under the designation organic acid disorders . The term organic acid is particularly imprecise but, unfortunately, appears to be firmly entrenched in the medical literature. Carboxylic acids are the most important organoid acids. Their functional group is the carboxyl group. These compounds would include…

Amino Acids

Since the late 1950s, numerous disorders of amino acid (AA) metabolism have been described with major implications for the developing nervous system. Although each of the disorders is rare, collectively they are important for two major reasons. First, they represent causes of devastating disturbances of neurological development that are potentially treatable, and second, they provide insight into normal and abnormal brain metabolism. Disorders of AA metabolism…

Bilirubin and Brain Injury

An important relationship between bilirubin and injury to the neonatal central nervous system (CNS) has been recognized for many years. The first comprehensive description of the most overt form of bilirubin encephalopathy (i.e., kernicterus) was provided by Schmorl in 1903. The development of therapeutic measures, such as exchange transfusion, and of preventive measures, such as the use of anti-Rh immune globulin to prevent maternal sensitization, resulted…

Glucose

Introduction Glucose, like oxygen, is of essential and fundamental importance for brain metabolism. Indeed, because oxygen consumption is relatively low in the neonatal human brain and minimal in such areas as cerebral white matter (see Chapter 16 ), glucose supply to the brain may be even more important. The major source of brain glucose is the blood supply; thus it is readily understood that serious encephalopathy…

Preterm Intraventricular Hemorrhage/Posthemorrhagic Hydrocephalus

Germinal matrix–intraventricular hemorrhage (GMH-IVH) is the most common variety of neonatal intracranial hemorrhage and is characteristic of the premature infant. The importance of the lesion relates not only to its high incidence but also to the essential gravity of the larger forms of IVH and their attendant complications. Moreover, the major forms of brain injury of the premature infant occur most commonly in the context of…

Cerebellar Hemorrhage

Cerebellar hemorrhage has been increasingly detected in the fetus and the preterm and full-term newborn in recent years. Currently, our understanding of cerebellar hemorrhagic injury and its long-term neurological sequelae has changed significantly, in large part because of increasing survival of critically ill infants and the greater availability and application of magnetic resonance imaging (MRI). Early studies reported a prevalence of cerebellar hemorrhage as high as…

Intracranial Hemorrhage: Subdural, Subarachnoid, Subpial, Intraventricular (Term Infant), Miscellaneous

Intracranial hemorrhage in the neonatal period is an important clinical problem. Its importance relates to a relatively high frequency of occurrence, accompanied at times by serious neurological sequelae or even death. Over the last decade there have been changes in the relative frequency of intracranial hemorrhage due to changes in obstetrical practice, such as increased vacuum-assisted delivery and reduced rotational forceps, and the improved survival of…

Stroke in the Newborn

The presentation and etiologies of stroke in the newborn differ from those of children and adults and, in many cases, remain unrecognized. Perinatal ischemic stroke has been defined as “a group of heterogeneous conditions in which there is a focal disruption of cerebral blood flow secondary to arterial or cerebral venous thrombosis or embolization, between 20 weeks of fetal life through 28th postnatal day confirmed by…

Hypoxic-Ischemic Injury in the Term Infant: Clinical-Neurological Features, Diagnosis, Imaging, Management, and Prognosis

The clinical aspects of neonatal hypoxic-ischemic encephalopathy (HIE) are appropriately discussed after the neuropathology (see Chapter 22 ) and pathophysiology (see Chapter 23 ), because understanding of the clinical phenomena is facilitated greatly by an awareness of the underlying pathological substrates. Moreover, choice of appropriate diagnostic modalities, formulation of rational prognostic statements, and development of appropriate plans of management are based, in many ways, on awareness…

Hypoxic-Ischemic Injury in the Term Infant: Pathophysiology

Introduction This chapter addresses the pathophysiology of hypoxic-ischemic injury. This is a dynamic process, characterized by an evolving cascade of events that may continue for days to weeks, months, and years after the initial insult. The neuropathology following primary, latent, secondary, and tertiary phases of injury include selective neuronal necrosis, parasagittal cerebral injury , and cerebral white matter injury (see Chapter 22 ). Though one or…

Hypoxic-Ischemic Encephalopathy in the Term Infant: Neuropathology

Hypoxic-ischemic brain injury is a very important neurological problem of the perinatal period. This importance relates to the general gravity of the lesions and to the relatively large number of affected infants. In the premature infant, this encephalopathy is often accompanied by intraventricular hemorrhage and its concomitants, which contribute to the neurological morbidity (see Chapter 28 ). Thus it is apparent that a basic understanding of…

Intrauterine and Intrapartum Assessment of the Fetus

The focus in this chapter is the assessment of fetal well-being, particularly as a means for the recognition of the infant that may be at risk of hypoxic-ischemic cerebral injury. The identification of an intrauterine disturbance in gas exchange between the human fetus and mother (i.e., asphyxia) or the likelihood that such a disturbance will occur during labor or delivery is critical, in view of the…

Encephalopathy of the Preterm—Clinical Aspects

INTRODUCTION This chapter addresses the clinical aspects of the encephalopathy of prematurity, a term coined to characterize the multifaceted, nonhemorrhagic white and gray matter lesions in the premature brain that reflect a combination of destructive and dysmaturational effects (see Chapters 18 and 19 ). The central pathology is cerebral white matter injury (WMI)/periventricular leukomalacia (PVL), with a variety of associated neuronal/axonal deficits. The latter principally affect…

Encephalopathy of Prematurity: Pathophysiology

OVERVIEW OF PATHOGENESIS Our understanding of the pathophysiology of the encephalopathy of prematurity continues to evolve significantly. Whereas the focus of this chapter in the prior edition was principally on cerebral white matter injury (WMI), it has become increasingly evident that the encephalopathy also involves dysmaturational processes that affect not only white matter development but also cerebral gray matter maturation. This expanded focus has been driven…

Encephalopathy of Prematurity: Neuropathology

The major neuropathological substrate of human preterm brain injury is the encephalopathy of prematurity , a term coined to characterize the multifaceted gray and white matter lesions in the preterm brain that reflect acquired and developmental factors in combination ( Box 18.1 , Table 18.1 ). The encephalopathy of prematurity is also associated with hemorrhages, notably in the germinal matrix of the ganglionic eminence (GE) (see…