bluuebunny/crossref_metadata_2025 huggingface dataset:
Hypothalamic-Midbrain Dysregulation Syndrome: Hypertension, Hyperthermia, Hyperventilation, and Decerebration
Authors: Pranzatelli M.R. , Pavlakis S.G. , Gould R.J. , De Vivo D.C.
Published: December 2008

Certain decerebrate lesions of brain stem or hypothalamus induce pharmacologically reversible hypertension and hyperthermia in animals. We observed three young patients with episodic decerebration, hyperthermia, hypertension, and hyperventilation during recovery from comas of different etiologies. The shared pathology on neurologic examinations and computed tomographic scans was hypothalamic-mesencephalic dysfunction, suggesting a diencephalic-brain-stem disconnection syndrome or brain-stem release mechanism. Propranolol was the most effective drug tested, but only two patients responded, one dramatically. This novel clinical syndrome may have localizing and therapeutic significance in pediatric coma that needs to be further defined in future studies. (J Child Neurol 1991;6:115-122).
Increased ALZ-50-Reactive Neurons in the Brains of SIDS Infants: An Indicator of Greater Neuronal Death?
Authors: Sparks D. Larry , Hunsaker John C.
Published: December 2008

Brain tissue from 15 infants who had died from sudden infant death syndrome (SIDS) and 15 age-matched control infants was investigated for the presence of degenerating neurons using ALZ-50 immunocytochemical methods. Significantly increased numbers (P < .0001) of ALZ-50-reactive neurons were found in SIDS infants compared to infants dying of known causes. The location and appearance of such ALZ-50-reactive neurons in SIDS may indicate that the initial degeneration of the central nervous system occurs early in the development of affected infants. (J Child Neurol 1991;6:123-127).
Stroke As a Late Sequela of Cranial Irradiation for Childhood Brain Tumors
Authors: Mitchell Wendy G. , Fishman Lawrence S. , Miller John H. , Nelson Marvin , Zeltzer Paul M. , Soni Daljit , Siegel Stuart M.
Published: December 2008

Cerebrovascular disease involving large and medium-size vessels is thought to be an uncommon sequela of treatment of childhood brain tumors. We reviewed 11 children who developed cerebrovascular disease manifested by strokes or transient ischemic attacks 6 months to 4 years after treatment of brain tumors, while their tumors were in remission. All had received radiation therapy, and seven had received chemotherapy. One child died of acute bilateral cerebral infarctions due to carotid occlusion on one side and marked stenosis on the other 2 years after receiving radiation therapy for an incompletely resected craniopharyngioma. Pathologically, there was marked subendothelial fibrosis of the vessels of the circle of Willis, with inflammatory changes surrounding some of the vessels.

In addition to the widely recognized small-vessel damage caused by radiation and chemotherapy in children (mineralizing microangiopathy), damage to medium and large intracranial vessels may result in late sequelae, manifested by stroke or transient ischemic attacks. (J Child Neurol 1991;6:128-133).
Transient Magnetic Resonance Imaging Abnormalities During Partial Status Epilepticus
Authors: Riela Anthony R. , Sires Brian P. , Kiffin Penry J.
Published: December 2008

Magnetic resonance imaging is an important tool in the evaluation of patients with seizures. Frequently, abnormalities are found that lead to further, invasive testing. The first child with transient abnormal findings on magnetic resonance imaging during a time of frequent partial seizures is presented. This lesion disappeared with seizure control. The imaging literature is reviewed concerning transient findings on any imaging modality during frequent seizures. Caution in recommending invasive procedures is suggested when abnormalities are found on magnetic resonance imaging during frequent seizures. (J Child Neurol 1991;6:143-145).
Jitteriness Beyond the Neonatal Period: A Benign Pattern of Movement in Infancy
Authors: Shuper A. , Zalzberg J. , Weitz R. , Mimouni M.
Published: December 2008

Jitteriness is a frequent, well-recognized phenomenon in neonates. Its occurrence in early infancy, beyond the neonatal period, is much less documented. Thirty-eight full-term infants who were jittery after 6 weeks of age were followed until the jitteriness disappeared and then reevaluated at the age of 3 years. The jittery movements had already been observed during the neonatal period in 16 babies but not before 6 weeks of age in 22. In 34 infants (89%), 1- and 5-minute Apgar scores were 9 or 10. At the initial examination, a mildly increased muscle tone was found in 12 infants, and hyperactive deep-tendon reflexes were found in 19. The jitteriness resolved at a mean age of 7.2 ± 3.4 months. At 3 years, 92% of the infants had a normal neurodevelopmental examination, while in the rest only minor, transient disturbances were found. This study indicates that jitteriness as a sole presentation in infants beyond the neonatal period is a benign phenomenon, associated with an excellent prognosis. Its etiology is unknown but seems most likely to be related to a maturational process within the central nervous system. ( J Child Neurol 1991;6:243-245).
Cerebrospinal Fluid β-Endorphin and Cortisol Study in Rett Syndrome
Authors: Echenne Bernard , Bressot Nicole , Bassir Mata , Daures Jean-Pierre , Rabinowitz Antoine
Published: December 2008

An evaluation of cerebrospinal fluid and plasma β-endorphin and cortisol levels was performed in 15 girls affected with classic Rett syndrome. There were no differences between the patient group and the control group in plasma cortisol and β-endorphin levels. But in Rett syndrome, a significant increase in β-endorphin was noted in the cerebrospinal fluid, with an elevation of the cerebrospinal fluid/plasma β-endorphin ratio and a decrease in cerebrospinal fluid cortisol. A substantial overlap between patients and control group diminishes the diagnostic value of cerebrospinal fluid β-endorphin assay in girls suspected of having Rett syndrome. ( J Child Neurol 1991;6:257-262).
Sudden Infant Death Syndrome: Altered Aminergic-Cholinergic Synaptic Markers in Hypothalamus
Authors: Sparks D. Larry , Hunsaker John C.
Published: December 2008

Alterations of sleep are reported to occur in sudden infant death syndrome (SIDS). It is well established that the hypothalamus mediates the onset, maintenance, and timing of sleep, and does so via serotonergic and cholinergic mechanisms.

We have investigated serotonergic and cholinergic synaptic markers in the hypothalamus from eight SIDS infants and six age-matched non-SIDS infants between 3 and 7 months of age. By use of established methods, we observed a number of chemical alterations in SIDS hypothalamus: (1) tryptophan content was increased and serotonin content was decreased, (2) serotonin binding was increased and imipramine binding was unchanged, (3) monoamine oxidase-A activity was increased without an effect on monoamine oxidase-B, and (4) choline acetyltransferase activity was decreased and acetylcholinesterase activity was unchanged. (J Child Neurol 1991;6:335-339).
Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects
Authors: El-Shanti Hatem , Bell William E. , Waziri Mary H.
Published: December 2008

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism. ( J Child Neurol 1992;7:29-34).
The Cavum Septi Pellucidi in Term and Preterm Newborn Infants
Authors: Mott Stephen H. , Bodensteiner John B. , Allan Walter C.
Published: December 2008

We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten consecutive normal scans were used since all infants had a CSP. At 36, 38, and 40 weeks, all normal scans were counted in order to obtain a prevalence estimate. A CSP was seen in all normal infants below 36 weeks of gestational age. At 36, 38, and 40 weeks, only 69%, 54%, and 36%, respectively, had CSPs. There was no significant change in the width, depth, or area of the CSP with age, birth weight, or biparietal diameter. A CSP greater than 0.95 cm in width or greater than 0.81 cm in depth is outside the normal range and may represent anomalous development of the midline structures of the brain. ( J Child Neurol 1992;7:35-38).
The Syndrome of Partial Seizures in Infancy
Authors: Duchowny Michael
Published: December 2008

Partial seizures, the most frequent type of epilepsy at all ages, remain a distinct yet relatively understudied disorder in early life. Their true incidence has not been defined, despite an extremely unfavorable long-term prognosis. They differ from partial seizures presenting later in life in several important aspects and are prone to misdiagnosis because of the difficulties inherent in recognizing subtle seizure manifestations and in assessing level of consciousness in very young patients. Most seizures are symptomatic of assorted prenatally acquired hemispheric insults; perinatal damage and tumors are less common. Video-electroencephalographic studies indicate that the majority of ictal events consist of behavioral arrest, stereotyped automatisms, and motor phenomena. Oroalimentary and gross motor automatisms are frequent, whereas highly organized gestural and behavioral sequences are extremely rare. Lateralized or asymmetric tonic, clonic, and occasional myoclonic motor manifestations characterize the majority of episodes. Pure behavioral arrest is much less common. These seizure patterns imply immaturity of systems responsible for inhibiting access to motor pathways and for organizing motor expression. Ictal and interictal epileptiform discharges are often focal or lateralized but lack age-specific features. Although as a rule partial seizures persist, some individuals display generalized or mixed seizure disorders in later life. ( J Child Neurol 1992;7:66-69).
GABA and Epilepsy: Their Complex Relationship and the Evolution of Our Understanding
Authors: Snodgrass S. Robert
Published: December 2008

Because of its abundance in the brain, its ability to produce hyperpolarizing inhibition of almost all neurons, its association with benzodiazepines, and the discovery that many convulsants inhibited its synthesis, γ-aminobutyric acid (GABA) has often appeared to be the key to epilepsy. Many assumed that "primary" or "genetic" epilepsy must be a disorder of GABA synapses and that GABA agonists would be universal anticonvulsants if permeability and drug metabolism were controlled. The GABA synthetic gene was a logical "candidate gene" for epilepsy.

However, the GABA-deficiency theory of epilepsy is less convincing today. GABA agonists were found to intensify seizures in some rodent and human cases. Absence and other generalized seizures in humans often worsened when treated with GABA transaminase inhibitors such as γ-vinyl-GABA. Surprisingly, the GABA transaminase inhibitors appear to be more useful in partial than in generalized epilepsies. Neuronal GABA uptake blockers are proconvulsant. GABA agonists aggravate seizures in several mutants, ranging from the photosensitive baboon to the genetically epilepsy-prone rat. How can this be understood? Muscimol injections into the pedunculopontine nucleus increase seizures due to systematically administered convulsants, while the receptor blocker bicuculline suppresses seizures after injection into several brain regions, including the striatum. The result of inhibiting inhibitory circuits is excitation.

Studies with GABA uptake blockers and the GABABagonist baclofen are presented in which their combined administration provoked seizures in rats. Baclofen was shown also to increase the incidence of seizures evoked by pentylenetetrazole without increasing seizures due to local injections of excitatory amino acids. Baclofen antagonized the myoclonic effect of 5-hydroxytryptophan in rats with serotonin lesions. Baclofen augments some seizures and inhibits others.

Selective inhibition of a particular tract, whether GABAergic or not, may have convulsant or anticonvulsant effects, depending on its connections and the state of the organism. GABAAreceptor stimulation is usually but not always anticonvulsant. GABABreceptor stimulation may facilitate absence seizures and related primary generalized seizures. GABABreceptors may be abnormal in some forms of nonfocal epilepsy seen in childhood. It is likely that mutations of GABA transporter and GABAAreceptor genes will be found in humans but they will probably not be patients with "pure epilepsy." ( J Child Neurol 1992;7:77-86).
Topical Review Article: Transient Neonatal Myasthenia Gravis
Authors: Papazian Oscar
Published: December 2008

Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, their pathogenic role is questionable because only some infants are symptomatic. Pathogenesis in infants without AChR antibodies is unknown. There is still no biologic marker for prenatal identification of this subpopulation of newborns, although HLA typing may be a promising tool. Sucking, swallowing, and respiratory difficulties are the most common presenting signs in the first day of life. Final diagnosis is done when administration of acetylcholinesterase agents transiently corrects the neuromuscular transmission defect. Serum AChR antibody titers follow the same pattern as their mothers. Supportive management and anticholinesterase agents prior to feedings are necessary in about 80% of patients. In the majority of infants the condition resolves spontaneously. ( J Child Neurol 1992;7:135-141).
Topical Review Article: Medulloblastoma: I. Clinical, Diagnostic, and Therapeutic Overview
Authors: Tomlinson Frank H. , Scheithauer Bernd W. , Meyer Fredric B. , Smithson William A. , Shaw Edward G. , Miller Gary M. , Groover Robert V.
Published: December 2008

Medulloblastoma, the most common embryonal tumor of the central nervous system, affects both children and adults. It poses a significant therapeutic challenge in that age-dependent differences exist, not only in their pathobiology, but in the efficacy of chemotherapy and radiotherapy. This is particularly the case in very young children, whose still developing nervous system exhibits a low tolerance to radiotherapy. We review the epidemiology, clinical presentation, radiologic features, and current therapeutic concepts relative to this unique neoplasm. Efforts are made to highlight clinical controversies. ( J Child Neurol 1992;7:142-155).
The Epileptiform Significance of Intermittent Rhythmic Delta Activity in Childhood
Authors: Riviello James J. , Foley Catherine M.
Published: December 2008

Intermittent rhythmic delta activity is reported in various disorders and is classified as a nonspecific abnormal electroencephalographic pattern. We have investigated its clinical and electroencephalographic features in childhood. Intermittent rhythmic delta activity was identified in 54 children over a period of 48 months. Epilepsy was present in 81%, 4% had only a single generalized tonic-clonic seizure, and 15% had no seizures. Generalized seizures were more common than partial seizures (83% versus 13%; 4% were mixed). The largest group of patients had idiopathic epilepsy. Epileptiform features were present in 70%. No patient identified prospectively has had a space-occupying lesion. Intermittent rhythmic delta activity should be considered an epileptiform pattern in children, most commonly occurring as an interictal pattern in primary generalized epilepsy. ( J Child Neurol 1992; 7:156-160).
Relative Disease Severity in Siblings With Myotonic Dystrophy
Authors: Andrews P. Ian , Wilson John
Published: December 2008

Myotonic dystrophy is an autosomal dominant disorder in which an early-onset form is characteristically inherited from the mother. We studied 17 affected sibling pairs from 15 families in which two or more affected children were born to mothers with myotonic dystrophy. Later-born affected children suffered more severe disease than their first-born siblings in 13 of 17 sibling pairs. Later-born affected siblings displayed significantly more neonatal feeding difficulties, later age when first sitting alone, later age when first walking alone, and a higher incidence of scoliosis. The overall difference in disease severity between affected siblings increased as the age difference between them increased, suggesting that increasing maternal age is a factor in the relative disease severity of affected children. These findings may have relevance for genetic counseling. ( J Child Neurol 1992;7:161-167).
Increased Intracranial Pressure in Alexander Disease: A Rare Presentation of White-Matter Disease
Authors: Garcia Leonardo , Gascon Generoso , Ozand Pinar , Yaish Hassan
Published: December 2008

A patient with biopsy-proven Alexander disease presented with progressive head enlargement and clinical evidence of increased intracranial pressure. Lumbar puncture under sedation confirmed increased intracranial pressure with otherwise normal cerebrospinal fluid values. The association of megalencephaly, increased intracranial pressure and neuroimaging evidence of leukoencephalopathy should alert pediatric neurologists to the possibility of Alexander disease. ( J Child Neurol 1992;7:168-171).
Familial Intracranial Hypertension: Report of a Case and Review of the Literature
Authors: Kharode Chaula , McAbee Gary , Sherman Jack , Kaufman Mark
Published: December 2008

A mother and daughter are presented who had intracranial hypertension 5 years apart. Possible contributing factors were the presence of obesity and occasional asthma in both. A review of the literature reveals three other families with intracranial hypertension occurring in successive generations (suggesting autosomal dominant transmission) and four families with intracranial hypertension occurring in siblings (suggesting autosomal recessive transmission). No reported cases of familial intracranial hypertension have revealed a contributing cause. ( J Child Neurol 1992;7:196-198).
Adequacy of Routine EEG Examinations in Neonates With Clinically Suspected Seizures
Authors: Glauser Tracy A. , Clancy Robert R.
Published: December 2008

This study identified the clinical and electroencephalographic (EEG) characteristics that distinguished neonates with EEGconfirmed seizures from those without, in order to assess the adequacy of routine short-term EEG examinations in neonates with clinically suspected seizures. Two different subgroups of tracings were analyzed: EEGs performed on therapeutically paralyzed (TP+) neonates and EEGs performed on non-therapeutically paralyzed (TP-) neonates. The rate of electrographic seizures, abnormal EEG background activity, and excessive sharp EEG transients (SETs) was significantly more common in the tracings performed on TP- neonates. In lethargic/comatose TP- neonates with clinically suspected seizures and abnormal EEG background activity, the rate of EEGs with excessive SETs (implying a "lowered seizure threshold") occurred equally in tracings with or without documented electrographic seizures. Consequently, we suspect that routine EEGs may be inadequate to electrographically confirm suspected seizures in some TP- neonates due to a large sampling error. In contrast, routine 40-minute EEGs are probably adequate to seek evidence of electrographic seizure activity in TP+ neonates because their seizure rate is low and most do not display background abnormalities or excessive SETs. (J Child Neurol 1992;7:215-220).
Topical Review Article: Medulloblastoma: II. A Pathobiologic Overview
Authors: Tomlinson Frank H. , Scheithauer Bernd W. , Jenkins Robert B.
Published: December 2008

The pathobiology of medulloblastoma is reviewed in light of emerging data regarding its immunocytochemical and cytobiologic, as well as molecular biologic, characteristics. The nature of the lesion, particularly its nosologic relation to primitive neuroectodermal tumor, is discussed, as is its place in the World Health Organization classification of tumors of the central nervous system. ( J Child Neurol 1992;7:240-252).
Topical Review Article: Nervous System Dysfunction in Children With Paraneoplastic Syndromes
Authors: Schor Nina Felice
Published: December 2008

Paraneoplastic syndromes are complexes of symptoms and signs that occur in association with cancer and that are unexplained by the known anatomic and physiologic characteristics of the tumor. Many of these syndromes are neurologic in nature or have consequences for the central or peripheral nervous system. These syndromes have been well characterized in adults. With the exception of opsoclonus-myoclonus, little has been written about the occurrence of such syndromes in children. This review looks at published reports of paraneoplastic syndromes in children and concludes that paraneoplastic syndromes in childhood differ from those seen in adulthood because of differences in both the host and the kinds of neoplasms most prevalent in each age group. Paraneoplastic syndromes may be underreported in childhood because of the difficulty in eliciting specific neurologic complaints from children and because a thorough neurologic examination is often not undertaken as a matter of routine. (J Child Neurol 1992;7:253-258).
Spontaneous Intracerebral Hemorrhage: A Very Late Delayed Effect of Radiation Therapy
Authors: Chung Elizabeth , Bodensteiner John , Hogg Jeffrey P.
Published: December 2008

Cerebral necrosis is a well-known delayed sequela of radiation to the central nervous system. Delayed intracerebral hemorrhage occurring several years after radiation is rare; however, with increased survival, this complication will become more common. We report a child who developed a brain-stem hemorrhage 4.5 years following radiation therapy for brainstem tumor. The possible pathogenesis for the spontaneous hemorrhage is discussed. The onset of the neurologic symptoms in this setting occurs later than the usual symptoms of radiation necrosis. It is important to recognize this entity as a late delayed complication of radiation therapy and not to mistake it for tumor recurrence. ( J Child Neurol 1992;7:259-263).
Etiology of Lateral Rectus Palsy in Infancy and Childhood
Authors: Afifi Adel K. , Bell William E. , Menezes Arnold H.
Published: December 2008

The etiologies of lateral rectus palsy in 132 infants and children seen over a period of 22 years in a university medical center were retrospectively reviewed and compared with similar reports in the literature. Unlike most reports, which lump children with adults, this study focuses on childhood etiologies of lateral rectus palsy. In contrast to the only two studies in the literature on childhood lateral rectus palsy, which reflect a purely ophthalmologic perspective, this study reflects experiences of pediatric neurology and pediatric neurosurgery, as well as ophthalmology. Most lateral rectus palsies were unilateral, almost equally distributed between right and left sides. Trauma, tumor, and congenital etiologies were the most prevalent. The relative frequency of each of these etiologies varies by service (neurology, neurosurgery, ophthalmology). In 10.6% of patients, etiology could not be determined. The majority of patients had an isolated lateral rectus palsy. Association of lateral rectus palsy with other cranial nerve palsies and/or long tract signs characterized trauma and tumor. The majority of tumors were primary and infratentorial. A small number of patients had benign recurrent lateral rectus palsy. (J Child Neurol 1992;7:295-299).
Trichothiodystrophy: Report of a New Case With Severe Nervous System Impairment
Authors: Rizzo Renata , Pavone Lorenzo , Micali Giuseppe , Calvieri Stefano , Di Gregorio Licia
Published: December 2008

The authors report a 3-year-old girl affected by trichothiodystrophy and severe nervous system involvement: the patient showed hypotonia since birth, mental retardation, and anomalies of the central nervous system consisting of partial agenesis of the corpus callosum on computed tomographic scan. ( J Child Neurol 1992;7:300-303).
The Physician and Down Syndrome: Are Attitudes Changing?
Authors: Haslam Robert H.A. , Milner Ruth
Published: December 2008

A survey of attitudes of pediatricians, child neurologists, and pediatric surgeons toward Down syndrome is compared with a similar study reported in 1975. A contemporary physician would be much more aggressive in treating a child with Down syndrome who has associated anomalies such as duodenal atresia or congenital heart disease. Few would recommend institutionalization of a person with Down syndrome; the majority expect that such individuals could productively spend their adult lives in group homes. Positive changes in physicians' attitudes during the past 15 years have been influenced by parent advocacy groups, court decisions, and studies showing that the ultimate intellectual and social skills of Down syndrome children are greater than was previously believed. The most prominent variable associated with attitudes was the physician's age: the older the physician, the more likely he or she would be nonsupportive of active treatment on behalf of the Down syndrome individual. These findings suggest that ongoing education of medical students and pediatric residents in the field of developmental disabilities and bioethics is required in order to promote well-informed advocacy for the mentally handicapped. (J Child Neurol 1992;7:304-310).
Topical Review Article: The Neuropathology of Pediatric Acquired Immunodeficiency Syndrome
Authors: Burns Dennis K.
Published: December 2008

Central nervous system disease has emerged as an important manifestation of acquired immunodeficiency syndrome in both the adult and pediatric populations, with neurologic abnormalities occurring in up to 90% of pediatric patients in some series. Neuropathologic studies, based primarily on the autopsy, have provided valuable insights into the spectrum and pathogenesis of acquired immunodeficiency syndrome-associated neurologic disorders, including primary human immunodeficiency virus encephalopathy and as the spectrum of infectious, neoplastic, and cerebrovascular diseases that may complicate the course of acquired immunodeficiency syndrome. Progressive encephalopathy represents the single most common neurologic disorder in pediatric acquired immunodeficiency syndrome and appears to be caused in most cases by direct infection in brain parenchyma by human immunodeficiency virus. Central nervous system lymphoma and cerebrovascular disease continue to account for most focal central nervous system lesions in the pediatric population. In contrast to adults with acquired immunodeficiency syndrome, opportunistic central nervous system infections remain relatively uncommon in the pediatric population. Our understanding of acquired immunodeficiency syndrome-associated neurologic disease remains far from complete. A plea is made for regular postmortem examination of the central nervous system in all patients dying with human immunodeficiency virus infection. (J Child Neurol 1992;7:332-346).
Spinal Muscular Atrophy: New Thoughts on the Pathogenesis and Classification Schema
Authors: Russman B.S. , Iannacone S.T. , Buncher C.R. , Samaha F.J. , White M. , Perkins B. , Zimmerman L. , Smith C. , Burhans K. , Barker L.
Published: December 2008

We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential. ( J Child Neurol 1992;7:347-353).
Lead Neurotoxicity and Disorders of Learning
Authors: Feldman Robert G. , White Roberta F.
Published: December 2008

Preventable and treatable causes of disorders of learning caused by lead exposure can be recognized by heightened awareness of this potential hazard. The Centers for Disease Control using data from many studies of neurobehavioral effects of lead in children and animals, has redefined the lead exposure threshold for clinical and social intervention from 25 μg/dL to 10 μg/dL. This article reviews the pertinent studies that provide evidence of the effects of lead exposure on development of the nervous system, effects on neural structures involved in memory and learning, and the impact of early lead encephalopathy on adolescent and adult learning skills and cognitive performance.

Physicians, teachers, and child care personnel are responsible for identifying children with behavioral signs of subclinical lead intoxication as early as possible. Screening programs and preventive strategies, such as the multitier Centers for Disease Control approach referred to in this article, are necessary. It is no longer reasonable to assume that lead-exposed children not demonstrating severe encephalopathy will recover completely, without residual brain damage after removal from exposure. Sufficient evidence now exists to clearly demonstrate measurable effects of low levels of lead body burden on behavioral and intellectual performance, resulting in learning disorders. ( J Child Neurol 1992; 7:354-359).
Partial Seizures in Two Cases of Metachromatic Leukodystrophy: Electrophysiologic and Neuroradiologic Findings
Authors: Fukumizu Michio , Matsui Kiyoshi , Hanaoka Shigeru , Sakuragawa Norio , Kurokawa Toru
Published: December 2008

This report concerns two cases of metachromatic leukodystrophy presenting partial seizures. One was a 2-year-old boy with a late infantile type and the other a 17-year-old girl with a juvenile type. The former had tonic-clonic seizures on the left with concomitant twitching of the left side of the face and adversive conjugate deviation of the eyes. After a while, his interictal sleep electroencephalogram (EEG) showed spikes in the right central area. The second case had hemiconvulsions on the right side, consisting mainly of tonic flexion of the upper limb followed by clonic flexions, and accompanied by adversive conjugate deviation of the head and eyes. Her ictal EEG showed rhythmic 6- to 7-Hz wave bursts in the left frontal area. To this date, no report has given a detailed discussion of the type of seizures and ictal EEG in metachromatic leukodystrophy. In addition, there have been few detailed reports of magnetic resonance imaging (MRI) in the juvenile type. It is interesting that typical partial seizures were observed in a hereditary metabolic disorder characterized by diffuse demyelination of the white matter, and the pathophysiology is discussed here mainly in relation to MRI findings of the case with the juvenile type. (J Child Neurol 1992;7:381-386).
Predictive Value of Electromyography in Diagnosis and Prognosis of the Hypotonic Infant
Authors: Russell James W. , Afifi Adel K. , Ross Mark A.
Published: December 2008

To investigate the diagnostic validity of electromyography in the hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year period, were studied retrospectively. The diagnoses using clinical, muscle biopsy, and laboratory characteristics were: 25 central hypotonia, 20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy, four benign congenital hypotonia, two congenital muscular dystrophy, two myasthenia gravis, one infantile inflammatory myopathy, and one arthrogryposis multiplex congenita. Using strict criteria, electromyography accurately predicted the final diagnosis in 65% of infants with spinal muscular atrophy and was consistent with the diagnosis in another 25%. In contrast, electromyography accurately predicted the final diagnosis in only 10% of infants with myopathy and was normal in 88% of infants with central hypotonia. In infants with spinal muscular atrophy, there was no difference in the predictive value of electromyography when performed in the newborn compared to older infants. Normal distal nerve conduction velocities in infants with spinal muscular atrophy may predict prognosis, since these infants had a longer survival. Electromyography thus has a high predictive value for infantile spinal muscular atrophy but not for myopathy. ( J Child Neurol 1992;7:387-391).
An Index for Proportion of Head Size to Body Mass During Infancy
Authors: Nishi Motoi , Miyake Hirotsugu , Akashi Hirofumi , Shimizu Haruo , Tateyama Hiroyoshi , Chaki Ryou , Tsukuda Hiroyuki , Nomura Hiroki , Hatanaka Yuuki , Nishi Michi
Published: December 2008

The index "head circumference (cm)3/body weight (g)" gave an almost constant average (about 10) and standard deviation (about 1) in more than 2000 children at birth and at 4, 10, and 18 months. Application of this index to the data previously published confirms that the average is almost constant throughout the period from birth to 18 months, irrespective of sex or race. Head circumference cubed and body weight correlate significantly. This index seems to be useful to assess the proportion of head size to body mass during infancy, and to contribute to early diagnosis of diseases such as hydrocephalus or microcephaly. ( J Child Neurol 1992;7:400-403).
Functional Interhemispheric Asymmetries at Birth As Demonstrated by Somatosensory Evoked Potentials
Authors: Majnemer Annette , Rosenblatt Bernard
Published: December 2008

Functional cerebral hemispheric asymmetries detectable at birth have been suggested by a number of neuroanatomic, neuroradiologic, and clinical neurophysiologic modalities. The aim of this study was to determine whether functional interhemispheric asymmetries can be identified using electrophysiologic measures. As part of a prospective study, somatosensory evoked potentials following median nerve stimulation were recorded in nine healthy full-term newborns on day 2 or 3 of life, and somatosensory evoked potentials were repeated at 2 and 6 months of age. These children were subsequently examined at 1 and 3 years of age by a pediatric neurologist and all had normal examinations. Handedness was determined at 3 years by questioning the parent and by clinical observation. Three of nine were left-handers. All three left-handers had clearly identifiable neonatal N19 parietal potentials over the right hemisphere. Following right median nerve stimulation, contralateral parietal potentials were absent on two of the three and questionable in the third. Asymmetries were not clearly present in right-handers although only one showed an increased maturation of the right hemisphere relative to the left. At 2 months of age, interhemispheric differences were no longer clearly evident. This data suggests that preferential hemispheric asymmetries are masked by 2 months of age. This differential rate of development demonstrated by neonatal somatosensory evoked potentials may be an early indicator of ultimate handedness. (J Child Neurol 1992; 7:408- 412) .
A Child With Valproic Acid-Associated Carnitine Deficiency and Carnitine-Responsive Cardiac Dysfunction
Authors: Bratton Susan L. , Garden Alexander L. , Bohan Timothy P. , French James W. , Clarke William R.
Published: December 2008

Valproic acid enhances renal losses of carnitine esters and leads to decreased plasma free carnitine concentrations in many patients receiving valproic acid therapy. However, decreased serum carnitine levels are of unclear pathologic significance, and most children manifest no symptoms of carnitine deficiency. We report a child with valproic acid-associated carnitine deficiency who had severe cardiac dysfunction develop that resolved with carnitine replacement therapy. (J Child Neurol 1992;7:413-416).
Magnetic Resonance Imaging Evaluation of Delayed Myelination in Down Syndrome: A Case Report and Review of the Literature
Authors: Koo Betty K.K. , Blaser Susan , Harwood-Nash Derek , Becker Laurence E. , Murphy E.G.
Published: December 2008

Magnetic resonance imaging has been found to be useful in assessing brain myelination and provides information on brain maturation. The normal pattern of brain myelination conforms to a fixed sequence, with good pathologic and MRI correlation. Neuropathologic analysis of myelination has shown delayed central myelination in Down syndrome. Delayed myelination on MRI in Down syndrome has not previously been reported. We report a case of Down syndrome with a significant delay in myelination as demonstrated on MRI. This 18-month-old infant had brain myelination equivalent to that expected for an 11-month-old infant. To determine the relative incidence, extent of delayed myelination, and time for recovery to full myelination in Down syndrome, more cases require examination and assessment. Magnetic resonance imaging has the advantage of serial assessment of myelination during brain maturation. (J Child Neurol 1992;7:417-421).
Topical Review Article: Pharmacologic Management of Neonatal Cerebral Ischemia and Hemorrhage: Old and New Directions
Authors: Miller Van S.
Published: December 2008

New developments in pharmacologic management of cerebral ischemia and hemorrhage are reviewed. A number of agents with diverse modes of action have now been shown to be neuroprotective in adult and neonatal animal models when administered either before or after a hypoxic-ischemic insult. As experience improves with these agents in hypoxic-ischemic injury and periventricular-intraventricular hemorrhage in human neonates, there is reason to be optimistic that effective neuroprotective strategies will soon be clinically available. (J Child Neurol 1993;8:7-18) .
Do Pediatricians Independently Manage Common Neurologic Problems?
Authors: Maria Bernard L. , English Wanda
Published: December 2008

Quality educational programs should ensure that pediatricians possess current knowledge, skills, values, and attitudes in child neurology. The aim of this study was to examine the relationship between pediatricians' self-confidence in neurology and their frequency of referral of children to neurologists. We distributed a questionnaire to pediatricians and pediatric trainees for self-assessment of their (1) knowledge and skill in performing a neurologic examination, (2) ability to interpret neurologic findings, (3) knowledge of factual information about diseases of the nervous system, (4) ability to determine the need for investigations, and (5) ability to develop a positive attitude toward neurologic diseases. While pediatricians had significantly (P < .01) higher self-assessment scores than pediatric trainees, 54.2% of pediatricians referred 90% or more of their patients with neurologic complaints to neurologists; 74.9% of pediatricians referred more than 50% of such children to neurologists. Interestingly, pediatricians who referred over 90% of their patients to neurologists showed a significantly lower self-assessment score (P = .006) than did other pediatricians in knowledge and skill in performing a neurologic examination. As neurologists, we should develop educational programs that encourage pediatric trainees to learn to provide comprehensive care to children with common neurologic complaints. (J Child Neurol 1993:8:73-77).
Topical Review Article: Brainstem Glioma: I. Pathology, Clinical Features, and Therapy
Authors: Maria Bernard L. , Rehder Kimberly , Eskin Thomas A. , Hamed Latif M. , Fennell Eileen B. , Quisling Ronald G. , Mickle J. Parker , Marcus Robert B. , Drane Walter E. , Mendenhall Nancy P. , McCollough W. Mark , Kedar Amos
Published: December 2008

Gliomas that arise in the brain stem have been associated with a poor prognosis. Diagnostic neuroimaging readily identifies the tumor as it extends between normal brainstem structures. Histologic sampling of tumor with stereotactic methods is notoriously unreliable in establishing a definitive prognosis. Clinical trials that incorporate high-dose chemotherapy, autologous bone marrow rescue, and irradiation hold promise of better tumor control by overcoming the inaccessibility of the central nervous system to standard doses of chemotherapy. We review the pathology, clinical features, neuroimaging features, and current therapeutic concepts relative to brainstem glioma. The pediatric neurologist has a pivotal role in identifying and monitoring children with this malignancy. ( J Child Neurol 1993;8:112-128).
Successful Treatment of Hereditary Trembling Chin With Botulinum Toxin
Authors: Gordon Kevin , Cadera Werner , Hinton George
Published: December 2008

Hereditary trembling chin is an autosomal dominant condition characterized by recurrent bouts of tremor involving the chin. These episodes are precipitated by emotional upset. There has been considerable debate about the gravity of this condition. This may be a benign movement disorder; however, the rhythmic trembling of mentalis at rest or during times of stress in these patients is often misinterpreted as betraying an incipient emotional upset. For this reason, some patients with this condition may find it socially disabling. We have recently successfully treated one such family with regular botulinum toxin injections to the mentalis muscle. ( J Child Neurol 1992;7:154-156).
Effects of Methylphenidate on Impulsive Responding in Children With Attention-Deficit Hyperactivity Disorder
Authors: Malone Molly A. , Swanson James M.
Published: December 2008

The present investigation examined the effects of methylphenidate on impulsivity in children with attention-deficit hyperactivity disorder (ADHD). A task was designed to measure empirically the ADHD child's proclivity to blurt out incorrect answers before giving a final and/or correct response. Twenty-six ADHD children referred for double-blind placebo-controlled assessment of medication responsiveness and 14 non-ADHD controls were given a visual search word-matching task to assess impulsive responding. An analysis of covariance showed that ADHD children on methylphenidate made fewer impulsive errors than ADHD children on placebo. The control group made fewer impulsive errors than the ADHD children in the placebo condition, but the performance of the ADHD children on medication approximated the performance of the children without ADHD. These preliminary findings suggest that the word-matching task may be a useful tool for assessing impulsive responding and determining the benefits of stimulant medication on impulsivity. ( J Child Neurol 1993;8:157-163).
Intrauterine-Onset Myoclonic Encephalopathy Associated With Cerebral Cortical Dysgenesis
Authors: du Plessis Adre J. , Kaufmann Walter E. , Kupsky William J.
Published: December 2008

The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by antenatal ultrasound, appears to have been of antenatal onset. The infant suffered an early demise and at autopsy showed features of a severe brain dysgenesis with polymicrogyria and superadded encephaloclastic features. Despite an extensive evaluation, the etiology of this condition remains elusive in our case. This case demonstrates that closer analysis of the qualitative features of fetal movements by, for instance, real-time ultrasound could aid in the antenatal diagnosis of neurologic, particularly convulsive, syndromes. ( J Child Neurol 1993;8:164-170).
Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy
Authors: Goebel Hans H. , Kimura Seiji , Harzer Klaus , Klein Harold
Published: December 2008

Three of four children were recognized by deficient β-galactocerebrosidase activities as having globoid cell leukodystrophy inclusions in sweat gland epithelial cells, similar in ultrastructure to those seen in Schwann cells. This observation in globoid cell leukodystrophy emphasizes the need to include sweat gland epithelial cells in examinations of skin in globoid cell leukodystrophy, as well as in any neurometabolic disorder. ( J Child Neurol 1993;8:171-174).
Pediatric AIDS: A Longitudinal Comparative MRI and CT Brain Imaging Study
Authors: Chamberlain Marc C.
Published: December 2008

Fourteen consecutive children with acquired immune deficiency syndrome (AIDS) (age range, 4 months to 11 years; median 4 years) were studied prospectively comparing nonenhanced cranial magnetic resonance imaging (MRI) and computed tomographic (CT) scans. MRI and CT were performed twice: at time of entry into protocol and again at 1 year. In addition, sequential neurologic (every 2 months) and neuropsychological examinations (every 6 months) were performed. At entry, 12 children had abnormal neurologic examinations; of these, 10 had developmental delay; two children were normal by developmental history and neurologic examination. Five children performed in the normal range on a standardized neuropsychological test, whereas nine children showed significant delays in verbal or motor/perceptual development. Following 1 year of study, four children had normal and six had abnormal neurologic examinations (six stable and four improved). Neuropsychological examinations were normal in five children and abnormal in five (seven stable, one improved, and two deteriorated). At entry, the following neuroradiographic abnormalities were seen: brain parenchymal volume loss (eight, MR = CT), cervical lymphatic enlargement (four, MR = CT), striatal-thalamic calcification (one, CT > MR), delayed myelination (one, MR > CT), and focal white-matter lesions (one, MR > CT). At 1 year the following neuroradiographic changes were seen: brain parenchymal volume loss (10, MR = CT; two improved, eight stable); cervical lymphatic enlargement (one, MR = CT; three improved, one stable), striatal-thalamic calcification (one, CT > MR; one new), and focal white-matter lesions (one, MR > CT; one stable). In conclusion, MRI offered no apparent advantage over CT in evaluating a small cohort of children with AIDS followed longitudinally for 1 year. This preliminary data would suggest that CT alone is sufficiently sensitive in evaluating pediatric AIDS-related brain abnormalities. ( J Child Neurol 1993;8:175-181).