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The most common pathologic bases of this state are diffuse cerebral injury due to closed head trauma, widespread laminar necrosis of the cortex after cardiac arrest, and thalamic necrosis from a number of causes. Most often the problem is one of sleeplessness, but sometimes it concerns excessive sleep or some peculiar phenomenon occurring in connection with sleep. The uncovering of paranoid symptoms in a patient with an anxiety state should always raise the question of depression, as should the presence of symptoms such as overwhelming fatigue, self-depreciation, and feelings of hopelessness and, of course, ideas of self-destruction. In view of this emphasis, it has been proposed that all degenerative diseases be classified according to their genetic and molecular abnormalities. The tumor, which takes the form of a giant choroid plexus, has as its cellular element the cuboidal epithelium of the plexus, which is closely related embryologically to the ependyma. Hypertensive encephalopathy in a 55-year-old woman with headache and a single seizure. Associations with connective tissue disease have been reported, but most cases in our experience have occurred in isolation. Any polyneuropathy that brings the patient to the brink of death or to respiratory failure within a few days will usually be of this variety. The finding of a granulomatous myopathy may indicate the presence of systemic sarcoidosis. Phantom phenomena are perceived as real by the patient, may be subject to a wide range of sensations (pressure, temperature, tickle, pain), and are perceived as an integral part of the self. The principal alteration is in the middle portion of the corpus callosum, which on gross examination appears somewhat rarefied and sunken and reddish or gray-yellow in color, depending on its age. Cretinism in association with these muscle abnormalities is known as the Kocher-Debre-Semelaigne syndrome, and myxґ edema in childhood or adult life with muscle hypertrophy is known as the Hoffmann syndrome; the latter simulates hypertrophia musculorum vera and myotonia congenita. Difficulty arises when symptoms of the psychiatric illness are so inconspicuous as not to be appreciated; one comes then to suspect the diagnosis only by having eliminated the common medical causes. Meningism is not synonymous with meningitis, since it may occur in acute systemic pyrexial illnesses (pneumonia, bronchitis), especially in children. Tyrosine-hydroxylase, the rate-limiting enzyme for the synthesis of dopamine, diminishes correspondingly. Jane Austen wrote one letter (1817) to a young niece in which script runs from right to left but with word order reversed within words. In this category of severe cerebral injury, where the patients survive for only a few hours or days, postmortem examination commonly discloses cerebral contusion and focal hemorrhage, necrosis of tissue, and brain swelling. The precise indications for this test, however, have not been clearly determined, and various studies give widely varying estimates of its usefulness in detecting a cardiac thrombus. This is well illustrated in the iris, where nerves to the dilator muscle (sympathetic) contain dense-core vesicles and those to the constrictor (parasympathetic), clear vesicles. Striking sociability and empathy sets them apart; they represent virtually the converse of autism in this respect. There is some experimental evidence that olfactory stimuli can cue autobiographical memories more effectively than cues from other sensory modalities. Neurotoxin Fish Poisoning (Ciguatera) Ingestion of marine toxins that block neural sodium channels is a common form of poisoning throughout coastal areas and islands of the world. Bacteriologic relapse after treatment is discontinued requires reinstitution of therapy. For example, the authors have encountered a striking case of lead encephalopathy in a man of Indian origin who was taking large amounts of an Aruvedic herbal remedy for arthritis. Cranial nerve, motor, and reflex functions are tested in the usual manner, but it must be remembered that the neurologic examination is never complete unless the patient will speak and cooperate in testing. The incubation period varies greatly, from a day or two to a month or even longer. This region contains a group of neurons in the vicinity of the "Botzinger complex" (which itself contains neurons that fire mainly during expiration). Lorber and others report that 80 to 90 percent of their surviving patients are mentally retarded to some degree and are paraplegic- thus totally dependent on others for their care. Elevations of glutamine are found in hepatic coma and the Reye syndrome and of phenylalanine, histidine, valine, leucine, isoleucine, tyrosine, and homocystine in the corresponding aminoacidurias.
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Crushing Injuries of the Skull Aside from the absence of concussion, these relatively rare cerebral lesions present no special clinical features or neurologic problems not already discussed. In meningocele, there is a protrusion of only the dura and arachnoid through the defect in the vertebral laminae, forming a cystic swelling usually in the lumbosacral region; the cord remains in the canal, however. The discomfort takes several forms: a dull, constant ache in the feet or legs; sharp and lancinating pains, momentary in duration, like those of tabes dorsalis; sensations of cramping or tightness in the muscles of the feet and calves; or band-like feelings around the legs. Cells of the anterior olfactory nucleus are found in scattered groups caudal to the olfactory bulb. The patient complains of pain in the back, of subacute or chronic nature, which is exacerbated by movement but not materially relieved by rest. In a study of 1218 postoperative patients by Moller and colleagues, older age was by far the most important association with confusion that persisted for weeks and months after an operation; but a number of other factors- including the duration of anesthesia, need for a second operation soon after the first, postoperative infection, and respiratory complications- were each predictive of mental difficulty in the days after the procedure. Another class of disorders involves an occult lumbosacral dysraphism that is not inherited but is due to faulty development of the cell mass that lies caudal to the posterior neuropore (normally this undergoes closure by the 28th day of embryonic life). In a few cases, several days of ataxia and areflexia ґ precede the paralysis, but sensory loss tends to be minimal. Sexual disinhibition may be a feature of frontal lobe syndromes, particularly of the orbitofrontal cortex. In recent years, it has come to be appreciated from serologic studies that the enteric organism Campylobacter jejuni is the most frequent identifiable antecedent infection but it accounts for only a relatively small proportion of cases. The Seventh, or Facial, Nerve Anatomic Considerations the seventh cranial nerve is mainly a motor nerve supplying all the muscles concerned with facial expression on one side. A hemianopia that has not cleared in a few weeks will usually be permanent, although reading and color discrimination may continue to improve. Oxygen should continue to be administered until it can be shown that the arterial oxygen saturation is normal without it. The protein is slightly or moderately elevated and in some instances glucose is mildly reduced. Cross Reference Hypersomnolence Snouting, Snout Reflex Sometimes used interchangeably with pout reflex, this term should probably be reserved for the puckering or pouting of the lips induced by constant pressure over the philtrum, rather than the phasic response to a tap over the muscle with finger or tendon hammer. Vertebral Artery the vertebral arteries are the chief arteries of the medulla; each supplies the lower three-fourths of the pyramid, the medial lemniscus, all or nearly all of the retro-olivary (lateral medullary) region, the restiform body, and the posteroinferior part of the cerebellar hemisphere. His observations were made in three patients, of whom two were alcoholics and one was a young woman with persistent vomiting following the ingestion of sulfuric acid. The test may be also be helpful in identifying a demyelinating neuropathy when the facial and oropharyngeal muscles are affected and those of the limbs are relatively spared, leaving conventional nerve studies normal. Recordings with pathologically verified lesions at these levels are to be found in the monograph by Chiappa. In the few cases of true hydromyelia that have come to our attention there has sometimes been a long-standing congenital hydrocephalus complicated years later by progressive weakness and atrophy of the shoulders and the muscles of the arms and hands. Aspiration pneumonia is avoided by prevention of vomiting (gastric tube and endotracheal intubation), proper positioning of the patient, and restriction of oral fluids. Later, psychiatrists uncommitted to psychoanalytic theory attributed these states to social forces leading to maladaptive behavior from childhood. Following Babinski, the terms dyssynergia, dysmetria, and dysdiadochokinesis came into common usage to describe cerebellar abnormalities of movement. The drunken patient totters, reels, tips forward and then backward, appearing each moment to be on the verge of losing his balance and falling. Many of these facts are well known and not difficult to master; they form the substance of later chapters. In one of our patients, the Aspergillus organisms had formed a granulomatous mass that compressed the cervical spinal cord. Based on limited pathologic study, there is no cerebellar degeneration; nevertheless, the shared clinical features with Friedreich ataxia are unmistakable. The familial nature of the process may not be appreciated because genetic penetrance is not complete until after 60 years of age. However, readmission rates have also risen (revolving-door phenomenon), and the total number of very young and very old patients in hospitals has even increased slightly.
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Fulminant Hepatic Failure and Cerebral Edema In acute hepatitis, confusional, delirious, and comatose states also occur, but their mechanisms are still unknown. The related issue of the accent of speech, which carries such a strong regional identity, probably also has an anatomic meaning, but one that remains obscure (see later comments on the "Foreign Accent Syndrome"). This pattern of change differs from that observed in diffuse metabolic disease of Schwann cells and in the dying-back type of neuropathy; i. This is not in accord with general experience in which varying degrees of depression are quite common in the weeks after delivery and cannot simply be attributed to psychosocial factors or sleep deprivation. Certain other drugs- notably the sulfonylureas, metronidazole, and furazolidone- have effects like those of disulfiram but are less potent. There is generally a concordance between areflexia and a loss of proprioceptive and joint-position senses; i. Total cerebral blood flow and cerebral oxygen and glucose consumption may be greatly reduced in the acute stages of the disease, and these defects may still be present after several weeks of treatment (Shimojyo et al). Brief tonic extension of the limbs, clonic convulsive movements lasting up to about 20 seconds and other peculiar movements may occur immediately after the loss of consciousness (see McCrory et al). Several probable cases evoking these different diagnoses have come to our attention; in each there were some components of the extrapyramidal picture of Wilson disease but without evidence of liver involvement or copper abnormality. Our own experience does not fully accord with this distinction between the two syndromes, and seldom have we been able to follow such an orderly sequence of neural dysfunction from the diencephalic to the medullary level. It should be pointed out to the patient that some individuals are rather forgetful or have difficulty in concentrating, or that it is necessary to ask specific questions in order to form some impression about his degree of nervousness when being examined. Approximately 20 percent of our patients have recovered completely after association of steroid therapy, and longterm remissions have been achieved in about an equal number. Included in this category are polyarteritis nodosa, the Churg-Strauss syndrome (allergic bronchial asthma and eosinophilia), rheumatoid arthritis, lupus erythematosus, scleroderma, cryoglobulinemia, Wegener granulomatosis, and the aforementioned idiopathic variety of vasculitis that is confined to the cranial peripheral nerves and has no systemic manifestations. Instances of hemiplegic migraine may account for some of the inexplicable strokes in young women and older adults of both sexes. Second, some of the most severe forms of Alzheimer disease occur in middle adult life, long before the senium. In patients who are treated late in the disease, when coma has supervened, the mortality rate is nearly 50 percent. Most American neurosurgeons take the less aggressive stance, delaying operation or operating only on patients with compound wounds or those with progression or worsening of the neurologic deficit despite adequate reduction and stabilization. Occasionally, the words yes and no can be uttered, usually in the correct context. The age of onset in the 4 nonfamilial cases was between 7 and 17 years, and the cerebellar ataxia followed the myoclonus by an interval of 1 to 20 years. In walking, the patient may have felt unsteady and veered to one side, or may have had a sensation of leaning or being pulled to the ground or to one side or another (a static tilt), as though being drawn by a strong magnet. The stimulation of single fibers by intraneural electrodes indicates that they can also convey information concerning the nature and location of the stimulus. Clinically, most affected individuals have been mentally retarded and some are epileptic. But there is another disease, known as hereditary essential benign myoclonus, that occurs in relatively pure form unaccompanied by ataxia (page 87). In generalized tetanus the loss of the silent period can almost always be demonstrated in the masseter, and it is found in a muscle affected by local tetanus. The use of these and other methods for the investigation of carotid artery disease (ultrasound Doppler flow and imaging techniques) is discussed further below and in Chap. As the descending axons subserving limb and facial movements emerge from the cortical motor strip, they maintain the anatomic specificity of the overlying cortex; therefore a discrete cortical-subcortical lesion will result in a restricted weakness of the hand and arm or the foot and leg. In other cases, ptosis of the eyelids and thinness and slackness of the facial muscles may be the earliest signs, preceding other muscular involvement by many years. This artery may supply the lower two-thirds of the cord, but in any individual the precise area supplied by this or any other anterior radiculomedullary artery varies greatly and one cannot predict what proportion of cord will be infarcted if one of these vessels is occluded. Therefore one must not insist that each disease conform strictly to a unique clinical syndrome. There is not enough information to determine if all these cases are accounted for by one process or to judge the effects of various immune treatments. In diparesis or diplegia, hypotonia gives way to spasticity and the same delay in motor development except that it predominates in the legs. The age of the patient, the mode of onset of the dementia, its clinical course and time span, the associated neurologic signs, and the accessory laboratory data constitute the basis of differential diagnosis.
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His anatomic data indicated that planned or commanded action is normally developed not in the frontal lobe, where the impulse to action arises, but in the parietal lobe of the dominant hemisphere, where visual, auditory, and somasthetic information is integrated. Slight impairment may be disclosed by a slowness of response or, if the digit is displaced very slowly, by an unawareness or uncertainty that movement has occurred; or, after the digit has been displaced in the same direction several times, the patient may misjudge the first movement in the opposite direction; or, after the examiner has moved the toe, the patient may make a number of small voluntary movements of the toe in an apparent attempt to determine its position or the direction of the movement. Barbiturates are also a component of combination preparations for the treatment of migraine. This calls attention to the fact that taste depends largely on the volatile particles in foods and beverages, which reach the olfactory receptors through the nasopharynx, and that the perception of flavor is a combination of smell, taste, and tactile sensation. Offshoots from the ascending anterolateral fasciculus (spinothalamic tract) to nuclei tensity of the noxious stimulus. Such a physiognomy is not unique to any disease, but when combined with dwarfism it includes a few more or less specific syndromes. Similar changes occur in the annulus of the disc, which frays to an increasing degree with the passage of time, permitting the nucleus pulposus to bulge and, sometimes with injury, to extrude. Many of the signs of brainstem disease (cranial nerve dysfunction and ataxia) improve also, usually within the first 6 months after injury (Jennett and Bond) and often to a surprising extent. In the past, approximately 15 percent of cases of delirium tremens ended fatally, but the figure now is closer to 5 percent. It has been our view that vascular changes do not have an important role in the pathogenesis of Alzheimer disease, but several groups hold a different opinion. Erythrocyanotic Headache On rare occasions, an intense, generalized, throbbing headache may occur in conjunction with flushing of the face and hands and numbness of the fingers (erythromelalgia). Regardless of the time and rapidity of onset, the autistic child exhibits a disregard for other persons; this is typically quite striking but can be subtle in milder cases. The nature of the basic abnormality of the brain underlying the mental retardation in many of these chromosomal dysgeneses has not been ascertained. The risk of infection of the external shunt tubing is high if it is left in place for much more than 3 days. Here we discuss a third more complex one- namely, mixed gaze and ocular muscle paralysis. Partington Syndrome this is yet another X-linked type of mental retardation, which in its fully expressed form, is associated with prominent dystonia of the hands and sometimes ataxia. The inferoposterior wall of the left ventricle is the site of most of the subendocardial mechanoreceptors that are responsible for the afferent impulses. The route from one place to another cannot be described, nor can given directions be understood. In chronic subdural hemorrhage, which can occur without remembered trauma, the indefinite picture of drowsiness, headache, confusion, and mild hemiparesis may erroneously be attributed to a stroke, especially in elderly persons. The neuropathy, when present, evolves over months or longer and may be asymmetrical, particularly at the onset, but becomes symmetrical and distal. Drugs such as L-dopa, tryptophan, and choline enhance the synthesis of dopamine, serotonin, and acetylcholine, respectively. The loss of taste from radiation of the oropharynx is usually recovered within a few weeks or months; the reduced turnover of taste buds caused by radiation therapy is only temporary. Once having established that the patient has a disease of the peripheral nerves and having ascertained its clinical and electrophysiologic pattern and time course, one is usually able to determine its nature. Intercalated neurons that give rise to the pupillomotor fibers, medulla, and cervical spinal cord to the eighth cervical and first which pass ventrally to the ipsilateral Edinger-Westphal nuand second thoracic segments, where they synapse with the lateral cleus and, via fibers that cross in the posterior commissure, horn cells. In a child, the first attack of febrile seizures in the course of an exanthematous illness may raise the suspicion of encephalitis or postinfectious encephalomyelitis. Coughing, sneezing, and straining characteristically evoke this sharp radiating pain, although each of these actions may also jar or move the spine and enhance local pain; jugular vein compression, which raises intra- spinal pressure and may cause a shift in position of the root, has a similar effect. Serologic tests are of great value but again must be interpreted with caution if there has not been an inciting clinical syndrome of erythema chronicum migrans or arthritis or a well-documented tick bite. We have also used plasma exchange or intravenous immune globulin in several patients, with uncertain results, although this approach was seemingly helpful in a few patients who had an explosive clinical onset. In this chapter we are concerned with nervousness, irritability, stress, anxiety, and depression as symptoms, together with currently accepted views of their origins and biologic significance. The incidence is greater in acute than in chronic leukemia and greater in lymphocytic than in myelocytic leukemia; it is also far more frequent in children than in adults. Other devices, often guided by the physical and occupational therapist, may be of great assistance to the patient and family as the disease progresses.
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The centrally situated disc is often painless, and the cord syndrome may simulate a degenerative neurologic disease. Prevention the prevention of reintoxication (or initial intoxication) demands that the child be removed from the source of lead. All forms of sensation are reduced, often deep sensation more so than pain and thermal sense, and tendon reflexes are lost. They associate trouble starting the gait cycle, shuffling, and freezing with the first type and poor balance with the second. Certain clinical and funduscopic findings, listed in Table 13-1 and described below, assist in distinguishing these processes, although all share the basic feature of conspicuous disc swelling. Posturing in the Comatose Patient One of these abnormal postures is decerebrate rigidity, which in its fully developed form consists of opisthotonos, clenching of the jaws, and stiff extension of the limbs, with internal rotation of the arms and plantar flexion of the feet (see Chap. Clinical Features Central pontine myelinosis occurs only sporadically, with no hint of a genetic factor. According to this theory, antigenic molecules are shared by certain tumors and central or peripheral neurons. Motion becomes limited, and there is percussioninduced tenderness over the spine in the involved segments and pain with jarring of the spine, as occurs when the heels strike the floor. Diagnosis of Late Chronic Polyneuropathies the majority of the more chronic and very gradually progressive polyneuropathies. Outpatient treatment (of individuals or groups) is widely available, either from specialized facilities or from specialized therapists in general mental health facilities; family counseling is usually offered as well and is often beneficial. Subcortical cerebral hemorrhages, spontaneous or traumatic, occasionally become sources of recurrent focal seizures. More difficult to understand is the occurrence of spinal cord herniation through an apparently spontaneous rent in the adjacent dura with no preceding injury. These cells have their origin in the embryologic subplate that guides neuronal migration, and the inference is that the abnormally migrating cells have formed aberrant neuronal connections. It should be pointed out that the allied symptoms of loss of body scheme and the lack of appreciation of a left hemiplegia are seperable, some patients displaying only one feature. They must also be made to understand that because of some constitutional peculiarity (like that of the diabetic, who cannot handle sugar) they are incapable of drinking in moderation. Yet these areas are involved in the initiation of planned action and executive control of all mental operations, including emotional expression. Vignos, who reviewed the studies that evaluated musclestrengthening exercises, has offered evidence that maximal resistance exercises, if begun early, can strengthen muscles in Duchenne, limb-girdle, and facioscapulohumeral dystrophies. Moreover, trauma of extracranial organs and tissues is frequent and obviously contributes to the fatal outcome. Such methods are finding increasing clinical and research use in the diagnosis of disorders of muscle and in gauging the effects of treatment. In a number of these cases, one-quarter in some series, the first manifestation of the metastasis is an intratumoral hemorrhage. Small numbers of gram-negative diplococci in leukocytes may be indistinguishable from fragmented nuclear material, which may also be gram-negative and of the same shape as bacteria. The hemifacial spasms are relieved for 4 to 5 months and injections can be repeated without danger. Both axonal degeneration and segmental demyelination have been demonstrated in teased nerve preparations. There are no reliable data on which to base this decision- only guidelines that favor continued participation if the deficit has been brief. Over time, they acquire a laxity of the supporting structures of the joint, which may actually perpetuate the problem. Since the nature of the condition is unsettled, it is treated by physicians using both psychologic methods and drugs. Orthostatic hypotension, tachycardia, fever, and hypersalivation may be troublesome in the first days and weeks of therapy with any agent in this class. Extensions of the plasma membrane into the fiber form the transverse tubular system (T tubules), which are extracellular channels of communication with the intracellular sarcoplasmic reticulum.
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The components of mentation and behavior that lend themselves to bedside examination are (1) the processes of attention, (2) perception and apperception (awareness of and interpretation of sensory stimuli); (3) the capacity to memorize and recall events of the recent and distant past; (4) the ability to think and reason; (5) temperament, mood, and emotion; (6) initiative, impulse, and drive; (7) social behavior; and (8) insight. Warming of the analgesic by rolling the vial between the palms seems to diminish the burning sensation that accompanies cutaneous infiltra- Copyright © 2005, 2001, 1997, 1993, 1989, 1985, 1981, 1977, by the McGraw-Hill Companies, Inc. Brief fluttering of the lid margins upon moving the eyes vertically is also characteristic of myasthenia. On the other extreme is complete avoidance on the part of the physician, an approach that is almost as unproductive. We have also seen two cases of fibrosacroma of the brachial plexus region in the radiation field for breast tumors (Gorson et al). The exercising of young animal muscle causes a hypertrophy of high-oxidative type 1 fibers and an increase in the proportion of low-oxidative type 2 fibers; aging muscle lacks this capacity- exercise produces only an increase in the proportion of type 2 fibers (Silbermann et al). The less frequent possibilities of tuberculous or bacterial brain abscess should be kept in mind if none of the other avenues allow a confident diagnosis. In the disease that now bears his name and that he called hepatolenticular degeneration, the most striking abnormality in the nervous system was a bilaterally symmetrical degeneration of the putamens, sometimes to the point of cavitation. All manner of motor functions- whether the simple maintenance of a standing posture, the control of speech and eye movements, or highly organized and complex motor skills- are adversely affected by alcohol. Moreover, in certain circumstances two processes frequently contribute to depressing consciousness, particularly head injury combined with drug or alcohol intoxication. The same mechanism is probably operative in other manifestations of the hyperreflexic state, such as the Hoffmann sign and the crossed adductor reflex of the thigh muscles. The dysesthesias fluctuate in severity and characteristically are worsened by contactual stimuli, sometimes to the point where the patient cannot walk or bear the touch of bedclothes, despite the relative preservation of motor power. The very early onset (preschool) of autism, the lack of delusional thinking, and different inheritance patterns are additional points against this being a type of childhood schizophrenia. One might suspect that the lingual and phonatory apparatus is paralyzed, until patients are observed to have no difficulty chewing, swallowing, clearing the throat, crying or shouting, and even vocalizing without words. In nonorganic visual impairment, by contrast, the visual field stays the same size with more distant targets (tunnel vision). Disorders of Lipid Metabolism Affecting Muscle Although it has long been known that lipids are an important source of energy in muscle metabolism (along with glucose), it was only in 1970 that W. About half of all benign rhabdomyomas of the heart are associated with tuberous sclerosis; if located in the wall of the atrium, they may cause conduction defects. Neurofibromas have a predilection for the thoracic region, whereas meningiomas are more evenly distributed over the vertical extent of the cord. In fact, it is striking that analysis of the patterns of these defects correlates accurately with the staging and aggressive characteristics of these tumors. In these cortical stimulations, neuronal circuits subserving fear are coextensive with those of anger; both are thought to lie in the medial part of the temporal lobe and amygdala, as discussed earlier. The retina becomes opaque and has a gray-yellow appearance; the arterioles are narrowed, with segmentation of columns of blood and a cherry-red appearance of the fovea (Fig. As halothane or a similar inhalational anesthesia is induced or succinylcholine is given for muscular relaxation, the jaw muscles unexpectedly become tense rather than relaxed, and soon the rigidity extends to all of the muscles. Then, 10 to 25 days after death of the axon, the denervated fibers develop spontaneous activity; each fiber contracts at its own rate and without relation to the activity of neighboring fibers. Fourth, neurofibrillary tangles can be reproduced in the experimental animal by such toxins as aluminum, vincristine, vinblastine, and colchicine. Prevalence of primitive reflexes and the relationship with cognitive change in healthy adults: a report from the Maastricht Aging Study. Whether the meningitis always originates in this way is, in our opinion, unlikely. They found also that certain neurologic signs- such as facial palsy, lack of grasping, excessive floppiness, and impairment of sucking- while sometimes indicative of serious disease of the nervous system, are less dependable; also, being rare, these signs will identify but few brain-damaged infants. The occurrence of familial cases, not in the same household, suggests a genetic susceptibility to infection, although the possibility of common early exposure to the transmissible agent cannot be dismissed. It should be noted that these destructive lesions are almost unique among the viral encephalitides, being seen only occasionally in other viral infections of the brain, among them La Crosse encephalitis in children (McJunkin et al). Clonus reflects hyperactivity of muscle stretch reflexes and may result from self-re-excitation. Usually several coronal and parasagittal views are obtained by placing the transducer over open fontanelles or the thin calvarium of an infant.
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Because of their paroxysmal nature and the response (of the kinesigenic type) to anticonvulsant drugs, these familial disorders had been thought to represent seizures originating in the basal ganglia. Such conditions are estimated to occur in 1 of every 1000 births, with a predominance in males (Lyon and Evrard). Skew deviation has been associated with posterior fossa lesions, from midbrain to medulla. Rarely, the clinical picture is that of a progressive confusional state or dementia (see the reviews of Alema and of Lehner and Barnes for detailed accounts). Presumably axis cylinders and myelin degenerate together, as would be expected from the loss of nerve cells in the superficial layer of the retina. Tremor and twitching during contraction may occur, but we have not seen fasciculations. A large proportion of young women with myasthenia have moderately elevated titers of antinuclear antibody without the clinical manifestations of systemic lupus. However, other complications have been described, notably a progressive cerebellar syndrome with cortical, dentatal, and olivary cell loss. In neither case are there physical findings to corroborate the sensory experiences. The primary sites of their action are the cerebral cortex and limbic system, which accounts for their anticonvulsive and anxiolytic effects. The channels are arranged for viewing into standard montages that generally compare the activity from one region of the cerebral cortex to that from the corresponding region of the opposite side. At all levels there are strong commissural connections through which auditory signals come to be represented bilaterally in the cerebrum. Patients with progressive vertebral displacement and neurologic deficits require surgery, usually posterolateral fusion and excision of the posterior elements. These issues are considered below, in the section on central pontine myelinolysis. The identity of these diseases has been established, as well as their close relationship to relapsing fever- a disease that is also caused by spirochetes of the genus Borrelia and transmitted by ticks. Movements are slow, stiff, and uncertain, especially those involving the legs, and there is a shuffling, wide-based gait. Wider experience with the pathology of the developmental type of syringomyelia and better understanding of the postulated mechanisms have led to the following classification, modified from Barnett and colleagues: Type I. The decision to underґ ` take any surgical procedure must be tempered by the fact that a majority of the patients, who are middle-aged, stabilize spontaneously in a few years. Some of the inevitable practical problems accompanying the dissolution of personal life caused by dementia can be ameliorated by judicious use of powers of attorney or guardianship and similar legal vehicles. Numerous other X-linked retardation syndromes with accompanying neurologic anomalies have been delineated; for example, the one due to a mutation in the oligophrenin gene, in which there is epilepsy, and another involving cerebellar hypoplasia. The primary abnormality in McArdle disease is a deficiency of myophosphorylase, which prevents the conversion of glycogen to glucose-6-phosphate. The former gives rise to a clinical picture much like that caused by the cyclopeptides. In such cases, on the slightest provocation and sometimes for no apparent reason, the patient is thrown into a stereotyped spasm of laughter that may last for many minutes, to the point of exhaustion. A subtle disorder of orientation may be betrayed by an incorrect response regarding dates (off by more than one day of the month or day of the week) or in misnaming the hospital. Many other benzodiazepine compounds have appeared in recent years, but a clear advantage over the original ones remains to be demonstrated (Hollister; Pirodsky and Cohn). These reactions respond to some extent to diphenhydramine or benztropine given two or three times in 24 to 48 h. However, under conditions of disease, motor or sensory functions may be affected independently. In the pathologic material of Hauw and associates, the chromatolytic changes were most pronounced in the brainstem nuclei (upper reticular and pontine) and not in the Betz cells. In the framework of gestalt psychology, the patient could recognize the parts but not the whole.
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Myoglobinuria may be detected in cases of acute inflammatory myopathy, in several types of glycogenosis (see Table 51-1), in carnitine palmityltransferase deficiency, and as a result of poisoning or therapeutic use of a vast array of drugs (including the combination of steroids and pancuronium, discussed earlier), toxins, and venoms (see Table 51-2). The patient may be reluctant to fully contract the muscles in a painful limb, and indeed pain itself may cause a reflex diminution in the power of contraction (algesic paresis). Lance and Adams found the irregular discharges to be transmitted via the corticospinal tracts, preceded in some cases by a discharge from the motor cortex. Therefore the patient subject to recurrent syncope should cover the bathroom floor and bathtub with mats and have as much of his home carpeted as is feasible. Many patients have transient back or radicular pain (sciatica) following the blood patch. A fundamental problem is the distinction of these aging deteriorations from degenerative disease. The most impressive results have been obtained by the use of stereotactic techniques to make lesions that are centered in the ventrolateral nuclei of the thalamus or in the pallidum ansa lenticularis region. This disorder is typified by one of our patients- a young woman who developed such an inflammatory mass first in one calf and then, 3 months later, in the other. These observations indicate that in some cases of ischemic attacks involving the retinal vessels, a temporary, complete, or relatively complete cessation of blood flow occurs locally and that the cause is sometimes microembolism. Often, in the latter case, the patient and physician fail to connect the sensory symptoms to drug toxicity. When the legs are affected, the tremor takes the form of a flexionextension movement of the foot, sometimes the knee; in the jaw and lips, it is seen as an up-and-down and pursing movements, respectively. Whether inflammation elsewhere in the body also predisposes to cerebral vascular occlusions, as has been suggested, is an open question. Ergotamine is an equally effective agent, but some safety issues and aggressive marketing of the triptans have reduced its use. Of prime importance is the prevention of cerebral embolism; this applies both to patients who have had an episode of embolism and to those who have not but are at risk of doing so. The importance of early diagnosis relates to the threat of blindness from thrombosis of the ophthalmic or posterior ciliary arteries. The mode of inheritance of the two syndromes, their benign course, pattern of neurologic signs, slow nerve conduction, and biopsy features (demyelination of nerve fibers with onion bulb formation) are much the same. There are, in addition to the aforementioned benign states, several syndromes of abnormal muscle activity. If treatment of the neuroleptic malignant syndrome is started early, when consciousness is first altered and the temperature is rising, bromocriptine in oral doses of 5 mg tid (up to 20 mg tid) will terminate the condition in a few hours. For these reasons, and because the well educated neurologist should have some understanding of this evolving field, there is in this chapter more emphasis on mutations that cause degenerative neurologic conditions than had been given in previous editions of the book. In the last decade or two, the authors have personally observed or have otherwise come to know of examples of the following metabolic diseases, the onset of which was in late adolescence or adult life: 1. Respiratory distress is the most important and often the only feature of the fat embolism syndrome, evident in the chest film as fluffy infiltrates in both lungs. The disorder is usually inherited as an autosomal recessive trait that is caused by mutations in perlecan, a heparin-sulfate proteoglycan that is bound to the basement membranes of skeletal muscle and cartilage. Other mutations are very small, involving only a single base pair ("point mutation"). The presence of such a response indicates that the patient can at least perceive light, and if there is a claim to the contrary, the patient is either hysterical or malingering. The lay observer, as well as the medical one, often speaks glibly of the changes of advanced age as a kind of second childhood. The presence of extinction is one of the behavioural manifestations of neglect and most usually follows non-dominant (right) hemisphere (parietal lobe) lesions. In a series of 26 cases of lobar hemorrhage, we found 11 to lie within the occipital lobe (with pain around the ipsilateral eye and a dense homonymous hemianopia); 7 in the temporal lobe (with pain in or anterior to the ear, partial hemianopia, and fluent aphasia); 4 in the frontal lobe (with frontal headache and contralateral hemiplegia, mainly of the arm); and 3 in the parietal lobe (with anterior temporal headache and hemisensory deficit contralaterally) (Ropper and Davis). Conversely, pathologies confined, largely or exclusively, to the dorsal columns (classically tabes dorsalis and subacute combined degeneration of the cord from vitamin B12 deficiency, but probably most commonly seen with compressive cervical myelopathy) impair proprioception, sometimes sufficient to produce pseudoathetosis or sensory ataxia, whilst pain and temperature sensation is preserved. Neurons that innervate slowtwitch type 1 muscle fibers are more sensitive than those supplying fast-twitch type 2 fibers. Diseases that cause no focal or lateralizing neurologic signs, usually with normal brainstem functions.