PRINCIPLES OF NEUROLOGY - PART 7 pdf

ment or an expanding intracranial hemorrhage is an immediate threat to survival. The problem is mainly surgical, and the clinical status of the patient determines the timing of planned operative intervention. Imme- diate removal of the bullet or excision of shattered brain tissue is usu- ally of no advantage. SEQUELAE OF HEAD INJURY Concussion invariably leaves the patient with a permanent gap in mem- ory, extending from a point before the injury occurred until the time he was able to form consecutive memories. The duration of the retrograde and anterograde amnesia, particularly the latter, is the most reliable index of the severity of the concussive injury. Concussion and even more trivial injuries (in which there is no con- cussion) may also leave the patient with persistent headache, fatigue, irritability, dizziness (lightheadedness), difficulty in concentration, dis- turbed sleep, anxiety, and depression. This syndrome is common and has been given many names—postconcussion syndrome, traumatic neurasthenia, and posttraumatic nervous instability, which is the one we prefer. These symptoms may persist for weeks, months, or a year or more. The syndrome is more frequent and prolonged when compensa- tion or litigation is an issue. Settlement of the legal problem, reassur- ance, and appropriate use of antianxiety and antidepression medication are essential steps in the rehabilitation program. Concussive head injury is thought, on dubious grounds, to increase the patient’s vulnerability to subsequent concussions. In respect to patients with contusional injury, all gradations in the severity of neurologic sequelae can be observed. There are widespread hemorrhagic shearing and ischemic injuries that can be seen by MRI, and to a lesser extent by CT scan. Death in the first few hours or days after the injury, or the vegetative state, is frequent. Some patients, fol- lowing a protracted period of coma, maintain normal vital signs, open their eyes, and appear to be awake, but betray no signs of cognition or responsiveness (persistent vegetative state, see Chap. 17). Other patients, in whom the symptoms fall short of those of the persistent veg- etative state, function better but remain severely and permanently “brain-damaged.” In the majority of patients with contusion, the consequences of the brain damage recede, usually in the first 6 months and often to a sur- prising degree. Nevertheless, many patients are left with troublesome symptoms. Delayed onset of seizures is to be expected in 10 to 40 per- cent of patients with contusion (but not in those with pure concussion). Focal deficits—hemiparesis, dysphasia, frontal lobe disorder—may persist in mild form in patients with hemispheral injuries and cerebel- lar ataxia and various upper brainstem abnormalities in those who have had temporal lobe–tentorial herniations. Mental and personality 330 PART IV / THE MAJOR CATEGORIES OF NEUROLOGIC DISEASE 4777 Victor Ch 34 p327-331 6/11/01 2:12 PM Page 330 changes may develop and cause serious problems in resuming employ- ment and social adjustment; these demand expert neuropsychiatric care. Other Problems due to Head Injury Limitations of space preclude a full account of many problems based on head injury. We have omitted discussion of posttraumatic syncope; immediate traumatic epilepsy; particular cranial nerve injuries with skull fractures; meningeal fibrosis, subarachnoid hemorrhage, and delayed tension hydrocephalus; acute contusional swelling of the brain; traumatic dissection of the carotid and vertebral arteries; cavernous arteriovenous fistula; traumatic migraine; delayed cerebral hemorrhage; CSF rhinorrhea; dementia-pugilistica (the “punch-drunk” syndrome); and predictors of outcome of head injury (e.g., the Glasgow coma scale). The reader will find a discussion of these topics in the Principles and other references in the suggested reading list. Spinal cord trauma is described in Chap. 43. For a more detailed discussion of this topic, see Adams, Victor, and Ropper: Principles of Neurology, 6th ed, pp 874–901. ADDITIONAL READING Adams JH, Graham DI, Murray LS, Scott G: Diffuse axonal injury due to non- missile head injury in humans: An analysis of 45 cases. Ann Neurol 12:557, 1982. Gennarelli TA, Thibault LE, Adams JH, et al: Diffuse axonal injury and traumatic coma in the primate. Ann Neurol 12:564, 1982. A Group of Neurosurgeons: Guidelines for initial management after head injury in adults. Br Med J 288:983, 1984. Jennett B, Teasdale G: Management of Head Injuries: Contemporary Neurology, no. 20. Philadelphia, Davis, 1981. Narayan RK, Wilberger JE, Povlishock JT: Neurotrauma. New York, McGraw- Hill, 1996. Ommaya AK, Grubb RL, Naumann RA: Coup and contrecoup injury: Observa- tions on the mechanisms of visible brain injuries in the rhesus monkey. J Neu- rosurg 35:503, 1971. Ropper AH (ed): Neurological and Neurosurgical Intensive Care, 3rd ed. New York, Raven, 1993. Strich SJ: The pathology of severe head injury. Lancet 2:443, 1961. Symonds CP: Concussion and contusion of the brain and their sequelae, in Feir- ing EH (ed): Brock’s Injuries of the Brain and Spinal Cord and Their Cover- ings, 5th ed. New York, Springer, 1974, pp 100–161. The Traumatic Coma Data Bank. J Neurosurg 75(Suppl):S1–S66, 1991. CHAPTER 34 / CRANIOCEREBRAL TRAUMA 331 4777 Victor Ch 34 p327-331 6/11/01 2:12 PM Page 331 35 Multiple Sclerosis and Related Demyelinative Diseases In speaking of disease, the term demyelinative, as a defining adjective, is used in two ways. One, which is incorrect in our opinion, is to spec- ify any disease that involves the white matter (myelin, axis cylinders, oligodendrocytes), whether tumor, infarct, or whatever. The other and more correct usage is to denote a disease that affects mainly the myelin sheaths of nerve fibers, leaving axons and their cells of origin relatively intact. Other pathologic attributes of a true demyelinative process are a lack of secondary wallerian degeneration (because of relative sparing of axis cylinders), an infiltration of inflammatory cells in a perivascular distribution, and often a perivenous pattern of distribution of demye- lination. The diseases that are listed in Table 35-1 conform to the latter defin- ition, and all of them share another attribute, that of being autoimmune. Omitted from this tabulation are a number of disorders such as subacute combined degeneration due to vitamin B 12 deficiency, progressive mul- tifocal leukoencephalopathy, and the cortical demyelination of hypoxic encephalopathy—each with prominent demyelination but with a read- ily defined and unique causative factor. MULTIPLE SCLEROSIS Definition Multiple sclerosis (MS) is a disease of the CNS, beginning most often in late adolescence and early adult life and expressing itself by discrete and recurrent attacks of spinal cord, brainstem, cerebellar, optic nerve, and cerebral dysfunction, the result of foci of destruction of myelinated fibers. The attacks are subacute in onset but may be acute and are often followed by remission of symptoms and even recovery. Epidemiology The geography of the disease is noteworthy. In the northern United States, Canada, Great Britain, and northern Europe, the prevalence is high—30 to 80 per 100,000 population. In the southern parts of Europe and the United States, the prevalence falls to 6 to 14 per 100,000, and in equatorial regions, to less than 1 per 100,000. Persons who migrate from a high- to a low-risk area (or vice versa) after the age of about 15 332 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 332 Copyright 1998 The McGraw-Hill Companies, Inc. Click Here for Terms of Use. years are said to retain the risk of their place of origin. Before that age, they acquire the risk of the place to which they migrate. Familial inci- dence is low but several times higher than chance expectancy. Certain histocompatibility (HLA) antigens are more frequent in the MS popu- lation (HLA-DR2, -DR3, -B7, and -A3). The occurrence of MS is rare in children. Women are more susceptible than men (1.7:1.0) and whites more than blacks. Trauma appears not to be causative, nor is pregnancy. Clinical Manifestations Rarely the disease occurs in asymptomatic form, the lesions being found accidentally by MRI. The first attack comes without warning and may be mono- or polysymptomatic. In one-fifth of the cases, the onset is acute; i.e., the deficit attains its maximum severity in minutes or hours. Weakness or numbness of a limb, monocular visual loss, diplo- pia, vertigo, facial weakness or numbness, ataxia, and nystagmus are the most common presenting symptoms, and they occur in various com- binations. Remission after the first attack is to be expected. Recurrences represent a recrudescence of earlier lesions or the effects of new ones, predominantly the former. Over a variable period, usually measured in years, the patient becomes increasingly handicapped, with an asym- metric paraparesis and obvious signs of corticospinal tract disease, sensory and cerebellar ataxia, urinary incontinence, optic atrophy, nys- tagmus, internuclear ophthalmoparesis, and dysarthria. Seizures occur in 3 to 4 percent of patients. Mental changes are variable, depending on whether spinal or cerebral lesions predominate and whether the latter are numerous. The late established stage may not be reached until 20 or 25 years have elapsed. Once the advanced stage is attained, deteriora- tion may be so slow as to suggest the presence of a degenerative dis- CHAPTER 35 / MULTIPLE SCLEROSIS AND RELATED DISEASES 333 TABLE 35-1 Classification of the Demyelinative Diseases I. Multiple sclerosis (disseminated or insular sclerosis) A. Chronic relapsing encephalomyelopathic form B. Acute multiple sclerosis C. Neuromyelitis optica (Devic disease) II. Diffuse cerebral sclerosis (encephalitis periaxilis diffusa) of Schilder and concentric sclerosis of Baló III. Acute disseminated (postinfections) encephalomyelitis and myelitis A. Following EBV, CMV, herpesvirus, Mycoplasma, or undefined infection B. Following measles, chickenpox, smallpox, and rarely mumps, rubella, influenza, or other obscure infection C. Following rabies or smallpox vaccination IV. Acute and subacute necrotizing hemorrhagic encephalitis A. Acute encephalopathic form (hemorrhagic leukoencephalitis of Hurst) B. Subacute necrotic myelopathy 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 333 ease. Other patients fail rapidly, within 3 to 4 years, and in rare in- stances, the patient succumbs within months of onset (acute MS). Slow progression of the disease without episodes of relapse also occurs, espe- cially at more advanced ages. There are no systemic signs other than fatigue. Retrobulbar optic neuritis A special form of demyelinative disease involves the optic nerve, which is an extension of the central nervous system, and proves to be the ini- tial manifestation of multiple sclerosis in about 25 percent of patients. Monocular blurring of vision or blindness, eye pain with movement of the globe, and desaturation of red coloration evolve over several hours or days. The optic disc may appear normal (retrobulbar neuritis) or ede- matous (papillitis), depending on the location of the lesion within the nerve, and the afferent pupillary response is muted. One-half or more of patients who present with optic neuritis alone will develop other mani- festations of multiple sclerosis after many years. Treatment of optic neuritis is with high doses of intravenous corti- costeroids, which speed the recovery of visual loss but probably do not alter the eventual outcome; orally administered steroids may actually increase the frequency of relapse. Pathology Multiple discrete lesions of myelin destruction, called plaques, range in size from a few millimeters to several centimeters. The regions around the lateral ventricles are common sites, and the perivenous relationship of the lesions is most evident in this location, but the lesions can be any- where in the CNS. The lesions also vary in appearance; fresh ones filled with macrophages are ivory or cream-colored, and old gliotic ones are gray. Perivascular cuffs of lymphocytes (T cells of CD4 type) and mononuclear cells are more frequent in recent lesions. The neurons and most of the axis cylinders are spared. Cavitation of one or more old lesions with total destruction of myelin, axons, and even blood vessels may occur. Pathogenesis There is some evidence that favors an early-life viral infection as the initial event in the pathogenesis of MS. However, all attempts to isolate a virus have failed. Whatever the initial event, an autoimmune, cell-mediated inflammatory process focused on CNS myelin or some component thereof appears to be the basis of the recurrent attacks and plaque formation. The factor that provokes recrudescences is a mystery. 334 PART IV / THE MAJOR CATEGORIES OF NEUROLOGIC DISEASE 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 334 Diagnosis Once there is evidence of multiple CNS lesions that have produced remitting and relapsing symptoms over a period of time—without evi- dence of syphilis or other infections, metastatic tumor, or cerebral arteritis (Behçet disease, lupus erythematosus)—the diagnosis becomes certain with a high degree of accuracy. A single lesion causing recur- rent symptoms must be regarded with suspicion. Although it may be due to MS, certain other types of solitary lesions (vascular malforma- tion of the brainstem, Chiari malformation, or a tumor of the foramen magnum, clivus, or cerebellopontine angle) may produce a clinical pic- ture that closely mimics MS, particularly in its early stages. Laboratory Findings In about 80 percent of established cases, the CSF is abnormal. There may be a mild mononuclear pleocytosis and a modest increase in total protein, but the gamma globulin fraction is often greatly increased (greater than 12 percent of the total protein). An even more sensitive index is the electrophoretic demonstration in the CSF of oligoclonal (several discrete) IgG bands. Lesions that are not clinically manifest may be revealed by visual, auditory, and somatosensory evoked poten- tial studies and by MRI, providing proof that the lesions are truly mul- tiple. A periventricular distribution of demyelination, with foci oriented radially, is a characteristic MRI finding. Old gliotic lesions are hypo- dense on CT and do not enhance after gadolinium infusion. Treatment The administration of corticosteroids, given over a period of weeks, appears to hasten the resolution of nascent lesions. IV methylpred- nisolone (500 mg daily for 3 to 5 days) is used in patients with acute symptomatic deterioration. These drugs have not prevented or reduced the incidence of recurrences, nor do they halt the disease in the late deteriorative stage. Immunosuppression therapy with a drug such as azathiaprine or cyclophosphamide, given over a period of years, has its advocates. Administration of ␤-interferon and a polymer of myelin (copolymer I) lessen the frequency of attacks in relapsing-remitting cases but have no discernible impact on other patterns of the disease. Other methods to suppress the immune response are under study. DIFFUSE CEREBRAL SCLEROSIS (SCHILDER DISEASE) The sporadic case of massive cerebral demyelination in one or several foci usually proves to be an example of cerebral multiple sclerosis. In CHAPTER 35 / MULTIPLE SCLEROSIS AND RELATED DISEASES 335 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 335 addition to the size of the lesions, this form of the disease, referred to as Schilder disease, differs from the usual form in being more frequent in childhood and adolescence and in the rapidity with which it may progress to a state of severe disability (weeks or months). The clinical manifestations indicate that the lesions involve tracts of myelinated fibers (optic nerves, geniculocalcarine tracts, corticospinal tracts, posterior or lateral columns of spinal cord, lemnisci of brainstem, and cerebellar peduncles). The characteristic lesion is a large, sharply outlined demyelinative focus involving an entire lobe or hemisphere and extending to the opposite hemisphere across the corpus callosum, but careful examination usually discloses additional lesions of MS in the brainstem, optic nerves, or spinal cord. Some degree of remission and relapse under these circumstances and the laboratory findings men- tioned above support the diagnosis of MS. Differential Diagnosis To be distinguished from Schilder disease are a number of other white matter diseases, not strictly demyelinative; they are called leukodystro- phies. The known forms of leukodystrophy, distinguished by their pathology, are metachromatic leukodystrophy, globoid-body leukodys- trophy (Krabbe disease), sudanophilic leukodystrophy, and adreno- leukodystrophy. These diseases are familial. Usually they begin in infancy and childhood, but each has been observed to have its onset in adult life, particularly adrenoleukodystrophy. The latter is essentially a male (sex-linked) disease diagnosed by finding evidence of adrenal insufficiency and very long chain fatty acids in cultured fibroblasts. Female carriers of this disease may develop a chronic myelopathy with corticospinal signs and a polyneuropathy. Progressive multifocal leukoencephalopathy is another disease that figures in the differential diagnosis of cerebral MS. The disease takes the form of a focal cerebral lesion, developing over a period of weeks, usually on a background of known lymphocytic leukemia, Hodgkin disease, lymphoma, AIDS, or immunosuppression of another type. Regional multifocality is demonstrated by CT scan and MRI. The CSF is usually normal (see Chap. 32). ACUTE DISSEMINATED ENCEPHALOMYELITIS (ADEM) (Postinfectious, Postexanthem, Postvaccinal Myelitis and Encephalomyelitis) All of these terms refer to a distinctive form of demyelinative disease, which evolves over a period of several hours or days in the setting of a viral disease, after certain vaccinations, or after some infection that often defies identification. The common viral precedents are EBV, 336 PART IV / THE MAJOR CATEGORIES OF NEUROLOGIC DISEASE 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 336 CMV, and the exanthems (measles, rubella, chickenpox). Occasionally, ADEM follows Mycoplasma infections. Cerebral, cerebellar, or spinal cases (transverse myelitis) appear acutely, along with a CSF pleocyto- sis. In cerebral cases, death may occur within days. With survival, there is often a gratifying recovery of function. The lesions are microscopic and consist of perivenous zones of demyelination with perivascular cuffing of lymphocytes and mononuclear cells. The changes are quite different from those of a viral infection, and a virus is not obtained from the cerebral tissue. An autoimmune reaction is postulated. Steroid ther- apy is of uncertain benefit. The widespread use of measles vaccine, the discontinuation of smallpox vaccination, and the introduction of new tissue culture vaccines for rabies have reduced the incidence of one form of this disease, but acute myelitis in relation to a postinfectious process continues to be common. A more slowly evolving form of ADEM (over a period of weeks) is observed from time to time, and has been referred to as “acute multiple sclerosis.” The lesions are larger than those of classic ADEM and do indeed resemble the plaques of MS, but if the disease does not prove fatal in the initial attack, it usually does not recur. ACUTE NECROTIZING HEMORRHAGIC ENCEPHALOMYELITIS (Leukoencephalitis of Hurst) This is the most fulminant of the acute postinfectious demyelinative processes, affecting mainly adults who have had a recent respiratory infection, sometimes due to M. pneumoniae. Within hours, there may be seizures, a massive hemiplegia or quadriplegia, and a polymor- phonuclear pleocytosis up to 3000 per mm 3 , with increased CSF pro- tein but normal glucose. No virus or bacteria are seen or isolated by culture. In one of our cases, brain swelling and herniation ended life within 6 h. A slower form of the disease, developing over 1 to 2 weeks and with slight pleocytosis, has also been observed. The lesions combine intense perivascular inflammation and demy- elination with many small hemorrhages and meningeal inflammation. Only the white matter is affected. Corticosteroid therapy (IV dexa- methasone, 6 to 10 mg every 6 h, or solumedral, 1 g/d) and plasma exchanges have apparently been beneficial in some cases. A similar lesion may affect only the spinal cord (acute necrotizing myelitis) or the spinal cord and optic nerves (one type of Devic neu- romyelitis optica). For a more detailed discussion of this topic, see Adams, Victor, and Ropper: Principles of Neurology, 6th ed, pp 902–927. CHAPTER 35 / MULTIPLE SCLEROSIS AND RELATED DISEASES 337 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 337 ADDITIONAL READING Adams RD, Kubik CS: The morbid anatomy of the demyelinative diseases. Am J Med 12:510, 1952. Arnason BGW: Interferon beta in multiple sclerosis. Neurology 43:641, 1993. Beck RW, Cleary PA, Anderson MM Jr, et al: A randomized controlled trial of corticosteroids in the treatment of acute optic neuritis. New Engl J Med 326:581, 1992. Ebers GC: Optic neuritis and multiple sclerosis. Arch Neurol 42:702, 1985. Hughes RAC, Sharrack B: More immunotherapy for multiple sclerosis. J Neurol Neurosurg Psychiatry 61:239, 1996. IFN␤ Multiple Sclerosis Study Group: Interferon beta-1b is effective in relapsing- remitting multiple sclerosis. I. Clinical results of a multicenter, randomized, double-blind, placebo-controlled trial. Neurology 43:655, 1993. Jacobs L, Kinkel PR, Kinkel WR: Silent brain lesions in patients with isolated idiopathic optic neuritis. Arch Neurol 43:452, 1986. Johnson RT, Griffin DE, Hirsch RL, et al: Measles encephalomyelitis: Clinical and immunologic studies. New Engl J Med 310:137, 1984. Lessel S: Corticosteroid treatment of acute optic neuritis. New Engl J Med 326:634, 1992. McDonald WI: The mystery of the origin of multiple sclerosis. J Neurol Neuro- surg Psychiatry 49:113, 1986. Mathews WB, Acheson ED, Batchelor JR, Weller RO (eds): McAlpine’s Multiple Sclerosis, 2nd ed. New York, Churchill Livingstone, 1991. Paty DW, Asbury AK, Herndon RM, et al: Use of magnetic resonance imaging in the diagnosis of multiple sclerosis: Policy statement. Neurology 36:1575, 1986. Poser CM, Goutiers F, Carpentier M: Schilder’s myelinoclastic diffuse sclerosis. Pediatrics 77:107, 1986. Sibley WA, Bamford CR, Clark K, et al: A prospective study of physical trauma and multiple sclerosis. J Neurol Neurosurg Psychiatry 54:584, 1991. 338 PART IV / THE MAJOR CATEGORIES OF NEUROLOGIC DISEASE 4777 Victor Ch 35 p332-338 6/11/01 2:13 PM Page 338 36 Inherited Metabolic Diseases of the Nervous System Advances in biochemistry have made possible the discovery of more than two hundred inherited metabolic diseases of the nervous system; conversely, the study of many of these diseases has opened new fields of neurochemistry. The diseases that fall into this category are too numerous to describe individually. Because they vary in the time of life when they become clinically manifest, a logical way of grouping them is by the age period in which they are most likely to appear—i.e., in the neonatal period, in infancy, and in early and late childhood. Only when these metabolic diseases develop later in life do they present them- selves with syndromes more familiar to adult neurologists—ataxia, myoclonus, rigidity, dementia, etc. Because of restrictions of space, it will be possible to present only a few illustrative examples from each of these age periods. Information about the rest of them can be found in the Principles and in the monographs of Scriver et al and of Lyon et al, listed in the references. The diseases being considered here are hereditary, and those appear- ing early are almost always transmitted as autosomal recessive traits. In other words, both the mother and father bear the abnormal gene but are themselves unaffected by the disease clinically; during intrauterine life, the mother’s normal metabolism protects the fetus, which is then nor- mal for a variable period postnatally. This fact is important because it offers the prospect of prevention. Indeed, biochemical screening of large populations at birth has identified those at risk for several inher- ited metabolic diseases, and in some instances it has been possible to prevent their effects on the nervous system. METABOLIC DISEASES IN THE NEONATAL PERIOD As indicated above, the infant is normal at birth; only after several days or weeks do these diseases begin to express themselves. The clinical syndrome that ensues is relatively nonspecific because the immature nervous system has only a limited number of ways of expressing disor- ders of function. The usual clinical manifestations are reduced alertness and responsivity (stupor, coma), lack of normal support reactions of the body and neck, loss of the Moro and startle responses, quivering of the face and limbs and sometimes more overt seizure activity, hypo- or hypertonia, disturbances of ocular control (oscillations, nystagmus, loss of vestibulo-ocular reflexes), poor feeding, unstable temperature, and hyperventilation. 339 4777 Victor Ch 36 p339-349 6/11/01 2:13 PM Page 339 Copyright 1998 The McGraw-Hill Companies, Inc. Click Here for Terms of Use. [...]... Mucolipidosis II (I-cell disease) Unknown 477 7 Victor Ch 36 p33 9-3 49 Adult form (Kufs disease) Accumulated metabolite Dermatan sulfate, heparan sulfate Dermatan sulfate, heparan sulfate Heparan N-sulfatase ␣-N-Acetylglucosaminidase Heparan-N-acetyltransferase ␣-N-Glucosamine-6-sulfatase Heparan Heparan Heparan Heparan N-Acetylgalactosamine-6-sulfate sulfatase ␤-Galactosidase Arylsulfatase B ␤-Glucuronidase... ␣-Galactosidase A Glucocerebrosidase Accumulated metabolite 477 7 Victor Ch 36 p33 9-3 49 342 TABLE 3 6-1 Lysosomal Storage Diseases Disorder Aspartylglucosaminuria Fucosidosis Galactosialidosis ␣-Mannosidosis ␤-Mannosidosis Mucolipidosis III (pseudo-Hurler polydystrophy) Mucolipidosis IV Glycoproteinoses Aspartylglucosaminidase ␣-L-Fucosidase Protective protein (␤-galactosidase and ␣-neuraminidase) ␣-Mannosidase... Diseases of Children, 2nd ed New York, McGraw-Hill, 1996 Menkes JH (ed): Textbook of Child Neurology, 5th ed Baltimore, Williams & Wilkins, 1995 Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed New York, McGraw-Hill, 1995  477 7 Victor Ch 37 p35 0-3 60 37 6/11/01 2:14 PM Page 350 Developmental Diseases of the Nervous System Developmental diseases of. .. 6/11/01 Hurler-Scheie syndrome Hunter disease Sanfilippo disease Type A Type B Type C Type D Morquio disease Type A Type B Maroteaux-Lamy disease ␤-Glucuronidase deficiency (Sly disease) Primary deficiency Mucopolysaccharidoses ␣-Iduronidase Iduronate sulfatase 477 7 Victor Ch 36 p33 9-3 49 344 TABLE 3 6-1 Lysosomal Storage Diseases (continued) Disorder 2:13 PM Page 344 477 7 Victor Ch 36 p33 9-3 49 6/11/01... growth of the head are usually due 350 Copyright 1998 The McGraw-Hill Companies, Inc Click Here for Terms of Use  477 7 Victor Ch 37 p35 0-3 60 6/11/01 2:14 PM Page 351 CHAPTER 37 / DEVELOPMENTAL DISEASES OF THE NERVOUS SYSTEM 351 to hydrocephalus (Chiari malformation, aqueductal stenosis) and less frequently to enlargement of the brain itself (Tay-Sachs disease, Alexander disease, spongy degeneration of. .. of encephalitis or encephalomyelitis Mother: HIV seropositive Infant: clinical stigmas appear only after several months ȆAntibodies in mother and fetus Acyclovir (?) ȆCells and protein, ȇglucose, and bacteria in CSF Antibiotics ȆCells and protein in CSF ȆMaternally derived antibody to HIV 6/11/01 At or near birth 477 7 Victor Ch 37 p35 0-3 60 Herpes simplex 2:14 PM Page 3 57 3 57 477 7 Victor Ch 37 p35 0-3 60... anomalies 64 16 5.8 Developmental abnormality of brain 49 16 4 .7 Metabolic and endocrine diseases 38 5 3.1 Progressive degenerative disease 5 7 0.9 Neurocutaneous diseases 4 0 0.3 Psychosis 7 6 1.0 Mentally retarded (cause unknown) 385 156 39.5 477 7 Victor Ch 37 p35 0-3 60 6/11/01 2:14 PM Page 359 CHAPTER 37 / DEVELOPMENTAL DISEASES OF THE NERVOUS SYSTEM 359 TABLE 3 7- 3 Diseases Associated with Severe Mental... one type of arrhinencephaly (Patau syndrome, trisomy 13); Edwards syn- 477 7 Victor Ch 37 p35 0-3 60 352 6/11/01 2:14 PM Page 352 PART IV / THE MAJOR CATEGORIES OF NEUROLOGIC DISEASE drome (trisomy 18); cri du chat syndrome (deletion of short arm of chromosome 5); Klinefelter syndrome (XXY); Turner syndrome (XO); and several others The Down syndrome is the most common, occurring once in every 70 0 births... trientine) will prevent the development of neurologic symptoms or cause them to regress  477 7 Victor Ch 36 p33 9-3 49 6/11/01 2:13 PM Page 3 47 CHAPTER 36 / INHERITED DISEASES OF THE NERVOUS SYSTEM 3 47 Other diseases inducing an extrapyramidal syndrome are Hallervorden-Spatz disease, childhood Huntington chorea, Leigh subacute encephalomyelopathy, and the juvenile type of Niemann-Pick disease Dystonia, Chorea,... into the ventricles Under 477 7 Victor Ch 37 p35 0-3 60 6/11/01 2:14 PM Page 353 CHAPTER 37 / DEVELOPMENTAL DISEASES OF THE NERVOUS SYSTEM 353 the microscope, these tuber-like structures, which give the disease its name, are composed of plump astrocytes Those in the cortex contain nerve cells, some of giant proportions, mixed with calcium deposits Neoplastic transformation of these abnormal cells into . Sialyloligosaccharides, and ␣-neuraminidase) galactosyloligosaccharides ␣-Mannosidosis ␣-Mannosidase ␣-Mannosyl-oligosaccharides ␤-Mannosidosis ␤-Mannosidase ␤-Mannosyl-oligosaccharides Mucolipidoses Sialidosis. disease Type A Heparan N-sulfatase Heparan sulfate Type B ␣-N-Acetylglucosaminidase Heparan sulfate Type C Heparan-N-acetyltransferase Heparan sulfate Type D ␣-N-Glucosamine-6-sulfatase Heparan sulfate Morquio. the age of about 15 332 477 7 Victor Ch 35 p33 2-3 38 6/11/01 2:13 PM Page 332 Copyright 1998 The McGraw-Hill Companies, Inc. Click Here for Terms of Use. years are said to retain the risk of their