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MAJOR CATEGORIES OF NEUROLOGIC DISEASE
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sized that hydromyelia or syringomyelia of the cervical cord are commonly associated ndings Developmental abnormalities of the cerebrum (particularly polymicrogyria) may coexist, and the lower end of the spinal cord (ie, lum terminale) may extend as low as the sacrum There are usually cranial bony abnormalities as well The posterior fossa is small; the foramen magnum is enlarged and grooved posteriorly Nishikawa et al have suggested that smallness of the posterior fossa, with overcrowding, is the primary abnormality leading to the brain malformation Often the base of the skull is attened or infolded by the cervical spine (basilar impression) Clinical Manifestations In type II Chiari malformation (with meningomyelocele), the problem becomes one of progressive hydrocephalus Cerebellar signs cannot be discerned in the rst few months of life However, lower cranial nerve abnormalities laryngeal stridor, fasciculations of the tongue, sternomastoid paralysis (causing head lag when the child is pulled from lying to sitting), facial weakness, deafness, bilateral abducens palsies may be present in varying combinations If the patient survives to later childhood or adolescence, one of the syndromes that occurs with the type I malformation may become manifest In the more common type I Chiari malformation (without meningocele or other signs of dysraphism), neurologic symptoms may not develop until adolescence or adult life The symptoms may be those of (1) increased intracranial pressure, mainly headache, (2) progressive cerebellar ataxia, (3) progressive spastic quadriparesis, (4) downbeating nystagmus, or (5) cervical syringomyelia (segmental amyotrophy and sensory loss, with or without pain) Or the patient may show a combination of disorders of the lower cranial nerves, cerebellum, medulla, and spinal cord (sensory and motor tract disorders), usually in conjunction with headache that is mainly occipital This combination of symptoms is often mistaken for multiple sclerosis or a foramen magnum tumor The symptoms may have an acute onset after sustained extension of the neck, as, for example, after a long session of dental work, hairdressing in women, or chiropractic manipulation The physical habitus of such patients may be normal, but about 25 percent have signs of an arrested hydrocephalus or a short bull neck When basilar impression (a congenital abnormality of the occipital bone that invaginates the posterior atlas into the cranial cavity) and a Chiari malformation coexist, it may be impossible to decide which of the two is responsible for the clinical ndings The tongue of cerebellar tissue and the kinked cervical cord obstruct the upward ow of dye and give a highly characteristic radiologic pro le, particularly on sagittal MRI (Fig 38-4) Inspection of the axial sections of CT scans at the level of the foramen magnum also demonstrates crowding of the upper cervical canal by inferiorly displaced cerebellar tissue, but one must be aware of the variations in the normal position of the cerebellar tonsils at this level The low-pressure CSF syndrome may also lead to a slight descent of the cerebellar tonsils that is reversible and in our experience not indicative of a Chiari malformation The CSF is usually normal but may show an elevated pressure and protein level in some cases Treatment The treatment of Chiari malformation (and basilar impression) is far from satisfactory If clinical progression is slight or uncertain, it is probably best to do nothing If progression is certain and disability is increasing, upper cervical laminectomy and enlargement of the foramen magnum are indicated Often this pro-
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Figure 38-4 Chiari-type malformation and developmental syringomyelia T1-weighted MRI of the low-lying cerebellar tonsils below the foramen magnum and behind the upper cervical cord (upper arrow) and the syrinx cavity in the upper cord (lower arrow)
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cedure halts the progress of the neurologic illness, arrests the hydrocephalus, or results in some improvement The outcome, in our experience, has been less satisfactory when decompression was performed mainly for intractable headache The surgical procedure must be done cautiously Opening of the dura and extensive manipulation of the malformation or excision of herniated cerebellum may aggravate the symptoms or even cause death The treatment of an associated syringomyelia and other developmental abnormalities in this region is discussed further on page 1082 We are unable to comment on the use by a limited number of neurosurgeons of posterior fossa decompression for the treatment of chronic fatigue syndrome except to say that it is illogical, even when a Chiari malformation is detected
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CHROMOSOMAL ABNORMALITIES (KARYOTYPIC CHROMOSOMAL DYSGENESES)
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A mid-twentieth-century discovery of outstanding signi cance was the recognition of a group of developmental anomalies of the brain and other organs associated with a demonstrable abnormality of the karyotype of autosomal and sex chromosomes Jacobs and Lejeune almost simultaneously were the rst to note a triplication of the 21st chromosome in the Down syndrome, and there followed the discovery of a number of other trisomies as well as deletions or translocations of other autosomal chromosomes and a lack or excess of one of the sex chromosomes Such an event must take place
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