The Publisher Library of Congress Cataloging-in-Publication Data Fenichel, Gerald M. Clinical pediatric neurology: a signs and symptoms approach / Gerald M. FENICHEL'S. CLINICAL. PEDIATRIC. NEUROLOGY. A Signs and Symptoms Approach. Seventh Edition. London, New York, Oxford, St Louis, Sydney, Toronto . Purpose: To develop a curriculum for training child neurologists for the practice of child neurosciences and clinical aspects of adult and child neurology.
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Clinical Pediatric Neurology. Edited by. Ronald B. David, MD. Attending Physician. Department of Pediatrics. St. Mary's Hospital. Associate Clinical Professor. Consultant and Senior Lecturer in Child Neurology. Great North Children's . Clinical Pharmacist at Royal Manchester Children's Hospital for her expert review of the See also M valrlulytiver.cf PDF | On Nov 1, , C R Kennedy and others published Clinical Pediatric Neurology.
Hardcover Verified download. Not convinced about the format.
It is structured by clinical problems which might be useful when considering a specific clinical question. But when studying you will find that metabolic disorders for examples are spread throughout the book and therefore a but difficult to get a global idea.
Does not get to deep into topics in general. One person found this helpful. Excellent product quality and timely delivery. Excellent condition and resource. Kindle Edition Verified download. Easy to use in a busy day help me solve clinical problems and teach medical students. Excellent Primer for Pediatric Neurology. Verified download. It is just the book I need. But bookbinding is not perfect. As described. See all 13 reviews. site Giveaway allows you to run promotional giveaways in order to create buzz, reward your audience, and attract new followers and customers.
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Get fast, free shipping with site Prime. Back to top. Get to Know Us. site Payment Products. An increased incidence of epilepsy in autistic children is probable. Infantile autism is a clinical diagnosis and not confirmable by laboratory tests. Infants with profound hearing impairment may display autistic behavior, and tests of hearing are diagnostic. An electroencephalogram EEG is indicated when seizures are suspected. Autism is not curable, but several drugs may be useful to control specific behavioral disturbances.
Behavior modification techniques improve some aspects of the severely aberrant behavior.
Despite the best program of treatment, however, these children function in a moderately to severely retarded range, although some individuals have islands of normal or extraordinary ability idiot savant. Bilateral Hippocampal Sclerosis Bilateral hippocampal sclerosis and the congenital bilateral perisylvian syndrome cause a profound impairment of language development.
The former also causes failure of cognitive capacity that mimics infantile autism, whereas the latter causes a pseudobulbar palsy see Chapter Infants with medial bilateral hippocampal sclerosis generally come to medical attention for refractory seizures. The syndrome emphasizes, however, that the integrity of one medial hippocampal gyrus is imperative for language development.
Hearing Impairment The major cause of isolated delay in speech development is hearing impairment see Chapter Hearing loss may occur concomitantly with global developmental retardation, as in rubella embryopathy, cytomegalic inclusion disease, neonatal meningitis, kernicterus, and several genetic disorders.
Hearing loss need not be profound; it can be insidious, yet delay speech development. The loss of high-frequency tones, inherent in telephone conversation, prevents the clear distinction of many consonants that humans learn to fill in through experience; infants do not have experience in supplying missing sounds.
The hearing of any infant with isolated delay in speech development requires audiometric testing. Crude testing in the office by slamming objects and ringing bells is inadequate. Hearing loss is suspected in children with global retardation caused by disorders ordinarily associated with hearing loss or in retarded children who fail to imitate sounds. Other clues to hearing loss in children are excessive gesturing and staring at the lips of people who are talking.
Clinicians test two kinds of tone: Phasic tone is a rapid contraction in response to a high-intensity stretch.
The tendon reflex response tests phasic tone. Striking the patellar tendon briefly stretches the quadriceps muscle. The spindle apparatus, sensing the stretch, sends an impulse through the sensory nerve to the spinal cord. This information is transmitted to the alpha motor neuron, and the quadriceps muscle contracts monosynaptic reflex. Postural tone is the prolonged contraction of antigravity muscles in response to the low-intensity stretch of gravity.
When postural tone is depressed, the trunk and limbs cannot maintain themselves against gravity, and the infant appears hypotonic. The maintenance of normal tone requires intact central and peripheral nervous systems. Hypotonia is a common symptom of neurological dysfunction and occurs in diseases of the brain, spinal cord, nerves, and muscles Table 6—1.
One anterior horn cell and all the muscle fibers that it innervates compose a motor unit. The motor unit is the unit of force. Weakness is a symptom of all motor unit disorders. A primary disorder of the anterior horn cell body is a neuronopathy, a primary disorder of the axon or its myelin covering is a neuropathy, and a primary disorder of the muscle fiber is a myopathy. In infancy and childhood, cerebral disorders far outnumber motor unit disorders.
The term cerebral hypotonia encompasses all causes of postural hypotonia caused by a cerebral disease or defect. Spontaneous movement is lacking, full abduction of the legs places the lateral surface of the thighs against the examining table, and the arms lie either extended at the sides of the body or flexed at the elbow with the hands beside the head.
Pectus excavatum is present when the infant has long-standing weakness in the chest wall muscles. Infants who lie motionless eventually develop flattening of the occiput and loss of hair on the portion of the scalp that is in constant contact with the crib sheet. When placed in a sitting posture, the head falls forward, the shoulders droop, and the limbs hang limply. Newborns who are hypotonic in utero may be born with hip dislocation, multiple joint contractures arthrogryposis , or both.
Hip dislocation is a common feature of intrauterine hypotonia. The forceful contraction of muscles pulling the femoral head into the acetabulum is a requirement of normal hip joint formation. Arthrogryposis varies in severity from clubfoot, the most common manifestation, to symmetrical flexion deformities of all limb joints.
Joint contractures are a nonspecific consequence of intrauterine immobilization. Among the several disorders that equally decrease fetal movement, however, some commonly produce arthrogryposis and others never do.
Table 6—2 summarizes the differential diagnosis of arthrogryposis. As a rule, newborns with arthrogryposis who require respiratory assistance do not survive extubation unless the underlying disorder is myasthenia. The traction response, vertical suspension, and horizontal suspension further evaluate tone in infants who appear hypotonic at rest.
Grasping the hands and pulling the infant toward a sitting position initiates the response. A normal term infant lifts the head from the surface immediately with the body. When attaining the sitting position, the head is erect in the midline for a few seconds. During traction, the examiner should feel the infant pulling back against traction and observe flexion at the elbow, knee, and ankle.
After 33 weeks, the neck flexors show increasing success in lifting the head. At term, only minimal head lag is present; after attaining the sitting posture, the head may continue to lag or may be erect briefly, then fall forward. The presence of more than minimal head lag and of failure to counter traction by flexion of the limbs in the term newborn is abnormal and indicates hypotonia.
Flaccid leg weakness may be the initial feature of disturbances in the lumbosacral region, but other symptoms of spinal cord dysfunction are usually present. Also, consult Table 12—1 when considering the differential diagnosis of flaccid leg weakness without arm impairment. Cerebral disorders may cause flaccid weakness, but dementia see Chapter 5 or seizures see Chapter 1 are usually a concomitant feature. Clinical Features of Neuromuscular Disease Weakness is decreased strength, as measured by the force of a maximal contraction.
Fatigue is inability to maintain a less than maximal contraction, as measured by exercise tolerance. Weak muscles are always fatigued more easily than normal muscles, but fatigue may occur in the absence of weakness.
Conditions in which strength is normal at rest, but fatigue or cramps occur with exercise are discussed in Chapter 8. Initial Complaint Limb weakness in children usually is noted first in the legs and then in the arms Table 7—1. This is because many neuromuscular disorders affect the legs before the arms, and walking is impaired.
Delayed development of motor skills is often an initial or prominent feature in the history of children with neuromuscular disorders. Marginal motor delay in children with otherwise normal development rarely raises concern and often is considered part of the spectrum of normal development. Prompts for neurological consultation in older children with neuromuscular disorders are failure to keep up with peers or easy fatigability.
With proximal weakness, the pelvis fails to stabilize and waddles from side to side as the child walks. Running is especially difficult and accentuates the hip waddle. Descending stairs is particularly difficult in children with quadriceps weakness; the knee cannot lock and stiffen. Difficulty with ascending stairs suggests hip extensor weakness. Rising from the floor or a deep chair is difficult, and the hands help to push off. Stumbling is an early complaint when there is distal leg weakness, especially weakness of the evictors and dorsiflexors of the foot.
Falling is first noted when the child walks on uneven surfaces.
Children with footdrop tend to lift the knee high in the air so that the foot clears the ground. The weak foot then comes down with a slapping motion steppage gait. Toe walking is commonplace in Duchenne muscular dystrophy DMD because the pelvis thrusts forward to shift the center of gravity, and the gastrocnemius muscle is stronger than the peroneal muscles.
Toe walking also occurs in upper motor neuron disorders that cause spasticity and in children who have tight heel cords but no identifiable neurological disease. Muscular dystrophy usually is associated with hyporeflexia, and spasticity is associated with hyperreflexia. The ankle tendon reflex may be difficult to elicit, however, when the tendon is tight for any reason.
Adolescents, but usually not children, with weakness complain of specific disabilities. A young woman with proximal weakness may have difficulty keeping her arms elevated to groom her hair or rotating the shoulder to get into and out of garments that have a zipper or hook in the back.
Weakness of hand muscles often comes to attention because of difficulty with handwriting. Adolescents may notice difficulty in unscrewing jar tops or working with tools. Teachers report to parents when children are slower than classmates in climbing stairs, getting up from the floor, and skipping and jumping. Parents may report a specific complaint to the physician, but more often, they define the problem as inability to keep up with peers.
A child whose limbs are weak also may have weakness in the muscles of the head and neck. Specific questions should be asked about double vision, drooping eyelids, difficulty chewing and swallowing, change of facial expression and strength whistling, sucking, chewing, blowing , and clarity and tone of speech.
Weakness of neck muscles frequently is noticed when the child is a passenger in a car that suddenly accelerates or decelerates. The neck muscles are unable to stabilize the head, which snaps backward or forward. Cramps can occur in normal children during and after vigorous exercise and after excessive loss of fluid or electrolytes. The characteristic electromyogram EMG finding for such cramps is the repetitive firing of normal motor unit potentials. Stretching the muscle relieves the cramp.
Partially denervated muscle is particularly susceptible to cramping not only during exercise, but also during sleep. Night cramps may awaken patients with neuronopathies, neuropathies, or root compression. Cramps during exercise occur also in patients with several different disorders of muscle energy metabolism. The EMG characteristic of these cramps is electrical silence. Muscle stiffness and spasms are not cramps, but are prolonged contractions of several muscles that are able to impose postures.
Such contractions may or may not be painful. When painful, they lack the explosive character of cramps. Prolonged contractions occur when muscles fail to relax myotonia or when motor unit activity is continuous Table 8—1. Prolonged, painless muscle contractions occur also in dystonia and in other movement disorders see Chapter These pains are not true cramps.
The muscle is not in spasm, the pain is diffuse and aching in quality, and the discomfort lasts for an hour or longer. Stretching the muscle does not relieve the pain. These pains are not a symptom of neuromuscular disease and are called growing pains, for want of better understanding. Mild analgesics or heat relieves symptoms. Exercise intolerance is a relative term for an inability to maintain exercise at an expected level. The causes of exercise intolerance considered in this chapter are fatigue and muscle pain.
Fatigue is a normal consequence of exercise and occurs in everyone at some level of activity. In general, weak children become fatigued more quickly than children who have normal strength.
Many children with exercise intolerance and cramps, but no permanent weakness, have a defect in an enzyme needed to produce energy for muscular contraction Table 8—2.
A known mechanism underlies several such inborn errors of metabolism. Even when the full spectrum of biochemical tests is available, however, identification of a metabolic defect is not possible in some children with cramps during exercise.
Conditions that produce some combination of cramps and exercise intolerance are divisible into three groups: As a rule, the first and third groups are symptomatic at all times, whereas the second group is symptomatic only with exercise. The first group usually requires an EMG for diagnosis.
EMG is the initial diagnostic test in children with muscle stiffness that is not due to spasticity or rigidity. It usually leads to the correct diagnosis Table 8—3. The EMG features of CMUA are repetitive muscle action potentials in response to a single nerve stimulus; high-frequency bursts of motor unit potentials of normal morphology abruptly start and stop.
Rhythmic firing of doublets, triplets, and multiplets occur. During long bursts, the potentials decline in amplitude.
This activity is difficult to distinguish from normal voluntary activity. CMUA occurs in a heterogeneous group of disorders characterized clinically by some combination of muscle pain, fasciculations, myokymia, contractures, and cramps Table 8—4.
The original name for neuromyotonia is Isaac syndrome. These disorders may be sporadic or familial in occurrence. When familial, the usual mode of transmission is autosomal dominant inheritance. Neuromyotonia The primary abnormality in neuromyotonia is in the nerve or the nerve terminal.
Most childhood cases are sporadic in occurrence, but some show a pattern of autosomal dominant inheritance. An autoimmune process directed against the potassium channel may account for some sporadic cases Shillito et al, The clinical triad includes involuntary muscle twitching fasciculations or myokymia , muscle cramps or stiffness, and myotonia.
Excessive sweating frequently is associated with the muscle stiffness. The age at onset is anytime from birth to adult life. The initial features are muscle twitching and cramps brought on by exercise. Later these symptoms also occur at rest and during sleep.
The cramps may affect only distal muscles, causing painful posturing of the hands and feet. As a rule, leg weakness is greater than arm weakness.
These disorders are not progressive and do not lead to permanent disability. Attacks of cramping are less frequent and severe with age. In some children, cramps and fasciculations are not as prominent as stiffness, which causes abnormal limb posturing associated frequently with excessive sweating. Leg involvement is more common than arm involvement, and the symptoms suggest dystonia see Chapter Limb posturing may begin in one foot and remain asymmetrical for months.
Most cases are sporadic. Muscle mass, muscle strength, and tendon reflexes are normal. Fasciculations are sporadic and seen only after prolonged observation. Some adult-onset cases are associated with malignancy, but this is never the case in children. Muscle fibers fire repetitively at a rate of to Hz, either continuously or in recurring bursts, producing a pinging sound. The discharge continues during sleep and persists after procaine block of the nerve.
Carbamazepine and phenytoin, at usual anticonvulsant doses, are effective in reducing or abolishing symptoms.
The gene locus maps to 1p Characteristic features include short stature, skeletal abnormalities, and persistent muscular contraction and hypertrophy.
The first group shows linkage to chromosome 1p SJS-1 corresponds to the original description of Schwartz and Jampel.
Bone deformities are not prominent at birth. CMUA of the face is the main feature producing a characteristic triad that includes narrowing of the palpebral fissures blepharophimosis , pursing of the mouth, and puckering of the chin. Striking or even blowing on the eyelids induces blepharospasm. CMUA in the limbs produces stiffness of gait and exercise intolerance.
Motor development during the first year is slow, but intelligence is normal. SJS-2 has prominent bone deformities at birth that suggest the Morquio syndrome osteochondrodystrophy. Neonatal mortality is high. Initial reports suggested incorrectly that the abnormal activity seen on the EMG and expressed clinically was myotonia. Myotonia may be present, but CMUA is responsible for the facial and limb symptoms.
The serum concentration of creatine kinase CK can be mildly elevated. The histological appearance of the muscle is usually normal but may show variation in fiber size and an increased number of central nuclei. Phenytoin or carbamazepine diminishes the muscle stiffness. Early treatment with relief of muscle stiffness reduces the severity of subsequent muscle deformity.
Autonomic dysfunction often is associated with sensory loss but sometimes occurs alone. Chapter 17 discusses sensory disturbances of the face. Sensory Symptoms Pain, dysesthesias, and loss of sensibility are the important symptoms of disturbed sensation. Peripheral neuropathy is the most common cause of disturbed sensation at any age. As a rule, hereditary neuropathies are more likely to cause loss of sensibility without discomfort, whereas acquired neuropathies are more likely to be painful.
Discomfort is more likely than numbness to bring a patient to medical attention. Nerve root pain generally follows a dermatomal distribution. Ordinarily, it is described as deep and aching. The pain is more proximal than distal and may be constant or intermittent. When intermittent, the pain may radiate in a dermatomal distribution. The most common cause of root pain in adults is sciatica associated with lumbar disk disease. Disk disease also occurs in adolescents, usually because of trauma.
In children, radiculitis is a more common cause of root pain. Polyneuropathy involving small nerve fibers causes dysesthetic pain. It compares with the abnormal sensation felt when dental anesthesia is wearing off. The discomfort is superficial, distal, and usually symmetrical.
Dysesthetic pain is never a feature of hereditary neuropathies in children. Loss of sensibility is the sole initial feature in children with sensory neuropathy. Because clumsiness is the initial feature, delay in establishing a correct diagnosis is common. Strength is normal, as are tests of cerebellar function.
Tendon reflexes are absent. download Instant Access. View Preview. Learn more Check out. Volume 47 , Issue 7 July Pages Related Information.
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