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MAJOR CATEGORIES OF NEUROLOGIC DISEASE
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cause of the physical dis gurement but also because they often re ect an abnormality of the underlying brain and spinal cord, ie, they become diagnostic signs
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Cranial Malformations at Birth and in Early Infancy
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Certain alterations in size and shape of the head in the infant, child, or even adult always signify a pathologic process that affected the brain before birth or in early infancy The size of the cranium re ects the size of the brain; therefore the tape measure is one of the most useful tools in pediatric neurology no examination in a neurologically affected child is complete without a measurement of the circumference of the head Graphs of the head circumference in males and females from birth to 18 years of age have been compiled by Nellhaus A newborn whose head circumference is below the third percentile for age and sex and whose fontanels are closed may be judged to have a developmental abnormality of the brain A head that is normal in size at term but fails to keep pace with body length (microcephaly) re ects a later failure of growth and maturation of the cerebral hemispheres (microencephaly) Enlargement of the Head (Macrocephaly) This can be due to factors extrinsic to the brain, such as hydrocephalus and hydranencephalus (as de ned below), or excessive brain growth (megaloor macroencephaly) (Table 38-2) The hydrocephalic head is distinguished by several features frontal protuberance, or bossing; a tendency for the eyes to turn down so that the sclerae are visible between the upper eyelids and iris (sunset sign); thinning of the scalp and prominence of scalp veins; separation of the cranial sutures; and a cracked pot sound on percussion of the skull Infantile hydrocephalus usually comes to medical attention because of an expanding cranium that exceeds normal dimensions for age The usual causes are type II Chiari malformation, hereditary aqueductal stenosis, and prenatal infections, eg, toxoplasmosis These disorders are discussed further on The hydranencephalic head (hydrocephalus and destruction or failure of development of parts of the cerebrum) is often associated with enlargement of the skull When it is transilluminated with a strong ashlight in a darkened room, the uid- lled region of the cranium glows like a jack-o -lantern Hydranencephaly is not a well-de ned entity It can be caused by cerebral infarction from intrauterine vascular occlusion or by diseases such as toxoplasmosis and cytomegalovirus (CMV) disease, which destroy parts of each cerebral hemisphere The lack of brain tissue reduces resistance to intraventricular pressure, permitting great enlargement Table 38-2 Causes of macrocephaly 1 Hydrocephalus 2 Hydranencephaly 3 Macroencephaly (enlarged brain) a Alexander disease b Canavan disease c Tay-Sachs disease 4 Agenesis of corpus callosum 5 Subdural hematoma 6 Constitutional (familial) macrocephaly 7 Hemimegalencephaly
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of both lateral ventricles; it is especially marked if there is an added hydrocephalic state due to interference with cerebrospinal uid (CSF) circulation This type of destruction of the cerebral mantle in the embryonal period may lead to the formation of huge defects, with apposition of ventricular and pial surfaces ( porencephaly) and subsequent failure of development (evagination) of the brain Yakovlev and Wadsworth referred to the localized failure of evagination as schizencephaly and postulated that it was the result of a focal developmental defect in the wall of the cerebral mantle They based their interpretation on the nding of malformed cortex in the margins of the defect, but this might indicate only that the lesion preceded neuronal migration Levine and coworkers have attributed it to a destructive, possibly ischemic lesion occurring in the rst few weeks of gestation, at a time when neuronal migration was incomplete We favor the latter explanation and describe it further in relation to the cerebral palsies In either event, the lack of resistance of the defective cerebral mantle to ventricular pressure expands the brain and cranium The macrocephalic head (a large head with normal or only slightly enlarged ventricles) may be indicative of an advancing metabolic disease that enlarges the brain, as in Alexander disease, Canavan s spongy degeneration of infancy, and later phases of Tay-Sachs disease, all of which are described in Chap 37 Agenesis of the corpus callosum, a common congenital defect, may be associated with macrocephaly and varying degrees of mental impairment, optic defects, and seizures In a series of 56 patients with agenesis of the corpus callosum, Taylor and David reported the presence of epilepsy in 32 and varying degrees of mental retardation in 28; only 9 had no recognizable neurologic defects Also noted was a high incidence of psychiatric disturbances in these patients In such cases, computed tomography (CT) and magnetic resonance imaging (MRI) reveal the characteristic bat-wing deformity of the ventricles There is also asynchrony of electrical activity of the two cerebral hemispheres on the electroencephalogram (EEG) In a few of these patients, an autosomal dominant inheritance has been found (Lynn et al) Agenesis of the corpus callosum is also part of the Aicardi syndrome (see further on) and the Andermann syndrome, and it has been noted in some cases of nonketotic hyperglycinemia Subdural hematomas may also enlarge the head and cause bulging of the fontanels and separation of the sutures In the latter condition, the infant is usually irritable and listless, taking nourishment poorly Infants and children with neuro bromatosis, osteogenesis imperfecta, and achondroplasia also have enlarged heads; in the last condition some degree of hydrocephalus appears to be responsible Ultrasonography, which can be performed in the prenatal and neonatal periods, is usually diagnostic in all these cranial enlargements Also MRI and CT scanning will disclose the size of the ventricles and the presence of subdural blood or uid (hygroma) Apart from patients with these pathologic states, there are individuals whose heads and brains are enlarged but who are normal in all other respects Many of these individuals come from families with large heads; Schreier and colleagues, who traced this condition through three generations of some families, declared it to be an autosomal dominant trait This group represented 20 percent of 557 children referred to a clinic because of cranial enlargement (Lorber and Priestley) Hemimegaloncephaly This term refers to a marked enlargement of one cerebral hemisphere as a result of a developmental abnormality The cortical gray matter and sometimes the basal ganglia are greatly increased in volume and weight The cerebellum, brain-
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