bluuebunny/crossref_metadata_2025 huggingface dataset:
Electrophysiologic Studies in an Infant With Möbius Syndrome
Authors: Hatanaka Takeshi , Yoshijima Satoshi , Hayashi Nobana , Owa Kenji , Suehiro Yutaka , Shinomiya Keisuke
Published: December 2008

The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R 1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly reduced amplitude. Auditory brainstem responses exhibited a prolonged time between waves I and V and reduced amplitude of wave V on the right side. Somatosensory evoked potentials and visual evoked potentials were normal. These findings suggest some degree of impairment of the peripheral facial nerve, and brainstem dysfunction including the pons and lateral medulla. ( J Child Neurol 1983;8:182-185).
Alternating Hemiplegia Syndrome: Electroencephalogram, Brain Mapping, and Brain Perfusion SPECT Scan Study in a Chinese Girl
Authors: Wong Virginia , Ho Gerrit C.L. , Yeung Henry W.D. , Ma K.M.
Published: December 2008

A 3-year-old Chinese girl with alternating hemiplegia syndrome failed to respond to anticonvulsants, antimigrainous drugs, and calcium channel blockers. She made a complete remission with a 4-week course of steroid, and relapsed after steroid withdrawal. Electroencephalogram and brain mapping during the hemiplegic attack showed unilateral high-voltage sharp slow-wave discharges in the temporo-occipital region contralateral to the hemiplegic side and diffuse high-voltage slowing during attacks of quadriplegia or other clinical manifestation such as dullness, lethargy, or yawning. Brain perfusion single photon emission computed tomographic (SPECT) scan study during the attack showed decreased uptake in the temporoparietal region contralateral to the hemiplegic side and in the ipsilateral basal ganglia, whereas the perfusion was normal between attacks. Electroencephalogram background activity was improved while the child was in clinical remission with steroid treatment. Computed tomographic and magnetic resonance imaging scans of the brain were normal. Carotid angiogram failed to show any structural or dynamic changes of the carotid arteries. The possible mechanism underlying alternating hemiplegia syndrome might be transient and reversible cerebral ischemia with high-voltage slow-wave discharges shown in the electroencephalogram and decreased perfusion in SPECT scan. (J Child Neurol 1993;8:221-226).
Technetium 99mTc-HMPAO SPECT in Children and Adolescents With Neurologic Disorders
Authors: Legido Agustin , Price M. Lynne , Wolfson Barbara , Faerber Eric N. , Foley Catherine , Miles Daniel , Grover Warren D.
Published: December 2008

We evaluated regional cerebral blood flow with technetium 99mTc hexamethylpropyleneamineoxime single photon emission computed tomography (SPECT) in 20 children and adolescents with neurologic dysfunction of varied etiology and abnormal electroencephalograms (EEGs). All patients were also examined with computed tomography (CT) and magnetic resonance imaging (MRI). Abnormal perfusion was found in 17 (85%) of 20 SPECT scans. Abnormal CT or MRI scans were noted in nine (45%) and in 10 (50%) of 20 cases, respectively. In eight (73%) of 11 cases with normal CT scans and in seven (70%) of 10 with normal MRI scans, the SPECT scan was abnormal. Abnormal regional cerebral blood flow on SPECT scans correlated better with EEG abnormalities than with neurologic examination or CT or MRI scan findings. We conclude that in children and adolescents with a spectrum of neurologic diseases and abnormal EEGS, abnormalities of brain structure or function are more likely to be documented by SPECT than by CT or MRI scans. SPECT findings correlate well with the location and type of EEG abnormality. (J Child Neurol 1993;8:227-234).
Chronic Paroxysmal Hemicrania in a Young Child: Possible Relation to Ipsilateral Occipital Infarction
Authors: Broeske Daniel , Lenn Nicholas J. , Cantos Eric
Published: December 2008

We report a child with chronic paroxysmal hemicrania beginning at 3 years of age with more than 2 years of daily episodes. Indomethacin produced total relief. An ipsilateral, occipital hemorrhagic infarction, probably predating the headaches, may have contributed to their pathogenesis. This is an unusually early onset and persistent chronic paroxysmal hemicrania of possible symptomatic type. ( J Child Neurol 1993;8:235-236).
Responses of Cerebral Blood Volume and Oxygenation to Carotid Ligation and Hypoxia in Young Rabbits: Near-Infrared Spectroscopy Study
Authors: Hirano Satoru , Hasegawa Motohiro , Kamei Atsushi , Ozaki Takeo , Takashima Sachio
Published: December 2008

After ligation of the bilateral common carotid arteries with exposure to hypoxia in young rabbits, cerebral blood oxyhemoglobin, deoxyhemoglobin, and total hemoglobin were measured by near-infrared spectroscopy. Ligation of common carotid arteries decreased oxyhemoglobin, increased deoxyhemoglobin, and slightly decreased total hemoglobin. Exposure to hypoxia with bilateral carotid ligation more remarkably decreased oxyhemoglobin and increased deoxyhemoglobin than that without carotid ligation. However, the total cerebral blood volume did not change very much. This marked reduction in the cerebral oxygenation may cause brain damage and may be an important monitoring marker for the prevention of hypoxic-ischemic encephalopathy. (J Child Neurol 1993;8:237-241).
Unique Hereditary Serisory and Autonomic Neuropathy With Growth Hormone Deficiency
Authors: Liberfarb Ruth M. , Jackson Anthony H. , Eavey Roland D. , Robb Richard M.
Published: December 2008

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance. ( J Child Neurol 1993;8:271-276).
Topical Review Article: Brainstem and Other Malignant Gliomas: II. Possible Mechanisms of Brain Infiltration by Tumor Cells
Authors: Maria Bernard L. , Eskin Thomas A. , Quisling Ronald G.
Published: December 2008

Gliomas that arise in the brain stem and other malignant gliomas constitute approximately 60% of all brain tumors and have eluded effective therapy, in part because they are able to infiltrate the normal brain. Histopathologic studies have confirmed the presence of infiltrating tumor cells very distant from the glioma mass. We review the neuroimaging and pathologic features of glioma-cell infiltration and some of the complex cellular and biochemical determinants of tumor-cell motility and invasiveness. Understanding how glioma cells become motile and invasive is pivotal to therapeutically targeting the machinery that enables gliomas to infiltrate the brain. (J Child Neurol 1993;8:292-305).
Epilepsy in Children With Autistic Spectrum Disorder
Authors: Wong Virginia
Published: December 2008

A prospective study looking at the prevalence of epilepsy in 246 children with autistic spectrum disorder revealed that 7.6% of children satisfying the criteria of infantile autism and 5% of those with an autistic condition had epilepsy. The majority had onset of seizures before the age of 1 year. Boys predominated in both groups. There was no correlation between the age of onset of seizures, type of seizure, sex, mentality, and the outcome of epilepsy. There is an increased risk of epilepsy in autistic children compared to those with developmental dysphasia or Down syndrome. There might be some underlying defect of the brain in autistic children that causes different degrees of autistic manifestation with which epilepsy is associated, as part of the spectrum complex. (J Child Neurol 1993;8:316-322).
Attention Deficit- Hyperactivity Disorder and Asymmetry of the Caudate Nucleus
Authors: Hynd George W. , Hern Kelly L. , Novey Edward S. , Eliopulos Deborah , Marshall Richard , Gonzalez Jose J. , Voeller Kytja K.
Published: December 2008

The neurologic basis of attention deficit-hyperactivity disorder (ADHD) is poorly understood. Based on previous studies that have implicated metabolic deficiencies in the caudate-striatal region in ADHD, we employed magnetic resonance imaging to investigate patterns of morphology of the head of the caudate nucleus in normal and ADHD children. In normal children, 72.7% evidenced a left-larger-than-right (L > R) pattern of asymmetry, whereas 63.6% of the ADHD children had the reverse (L < R) pattern of asymmetry of the head of the caudate nucleus. This reversal of normal asymmetry in ADHD children was due to a significantly smaller left caudate nucleus. The reversal in asymmetry of the head of the caudate was most notable in ADHD males. These results suggest that normal (L > R) morphologic asymmetry in the region of the caudate nucleus may be related to asymmetries observed in neurotransmitter systems implicated in ADHD. The behavioral symptoms of ADHD may reflect disinhibition from normal levels of dominant hemispheric control, possibly correlated with deviations in asymmetric caudate-striatal morphology and deficiencies in associated neurotransmitter systems. (J Child Neurol 1993;8:339-347).
Attentional Disturbance After Pediatric Closed Head Injury
Authors: Kaufmann Paul M. , Fletcher Jack M. , Levin Harvey S. , Miner Michael E. , Ewing-Cobbs Linda
Published: December 2008

The influence of severity of closed head injury and age on attentional functioning was prospectively investigated in 36 children (age range, 7 to 16 years) 6 months after injury. Children were placed into mild, moderate, and severe injury groups using established neurologic criteria. Each child received the Wechsler Intelligence Scale for Children-Revised Digit Span subtest and a continuous performance test. Children with severe closed head injury demonstrated significantly poorer continuous performance test scores than mildly or moderately injured children. Injury severity had no effect on Digit Span scores. Younger children exhibited more pronounced impairment on the continuous performance test relative to uninjured age peers. These results extend the persistence of attentional impairments beyond those of previous reports. Closed head injury is not associated with preferential sparing of sustained attention in younger children 6 months after injury. Brain injury earlier in life may result in delayed vulnerability of information processing skills. (J Child Neurol 1993;8:348-353).
Posterior Fossa Abnormalities in Children With Infantile Spasms
Authors: Schiffmann Raphael , Mannheim Glenn B. , Stafstrom Carl E. , Hamburger Susan D. , Holmes Gregory L.
Published: December 2008

In order to explore possible pathophysiologic involvement of the brain stem in infantile spasms, we retrospectively compared clinical and electroencephalographic (EEG) features of 14 children with infantile spasms who had gross posterior fossa abnormalities on neuroimaging studies with 84 children with infantile spasms who had either normal neuroimaging (n = 19) or supratentorial abnormalities (n = 65). Children with posterior fossa abnormalities had lower mean initial and follow-up developmental quotients compared to those with normal imaging or supratentorial abnormalities alone. Age of onset of infantile spasms, latency to treatment, response to steroids, and follow-up EEG pattern were not significantly different among the three groups. Six children (6%) had Dandy-Walker cysts, an association rarely reported with infantile spasms. We conclude that the presence of posterior fossa abnormalities in patients with infantile spasms portends a relatively poor developmental outcome. (J Child Neurol 1993;8:360-365).
Epilepsia Partialis Continua Due to Cortical Dysplasia
Authors: Kuzniecky Ruben , Powers Richard
Published: December 2008

We describe a child with progressive neurologic deterioration and epilepsia partialis continua of the right extremities. Magnetic resonance imaging suggested cortical dysplasia of the left frontal region including the central sensorimotor cortex. Subdural grid recordings showed widespread ictal activity and frequent interictal discharges from the motor cortex. A tailored resection was performed, and histologic analysis confirmed cortical dysplasia. This case demonstrates that cortical dysplasia may be the underlying cause in some cases of childhood epilepsia partialis continua of the progressive type. ( J Child Neurol 1993;8:386-388).
Report of Congenital Anaplastic Astrocytoma Discovered in a Newborn
Authors: Podskalny Gerald D. , Haller Jerome S. , Emrich Joseph F. , Barron Kevin D.
Published: December 2008

Reports of congenital anaplastic astrocytoma have been rare, representing less than 2% of all brain tumors. We present a case of a congenital anaplastic astrocytoma discovered during the first 24 hours after delivery. A recent literature review found 12 additional cases since 1972. The presenting signs, most common findings on neuroimaging, treatment, and outcome are examined. (J Child Neurol 1993;8:389-394).
Rapid Detection of Common Mutation of Arylsulfatase A in Metachromatic Leukodystrophy by Polymerase Chain Reaction With a Mismatched Primer
Authors: Ohshima Toshio , Sasaki Masayuki , Takahashi Junko , Sakuragawa Norio
Published: December 2008

The most common mutation in late-onset metachromatic leukodystrophy is a cytosine-to-thymine substitution in exon VIII. This mutation caused a substitution of leucine for proline at amino acid residue 426. We developed a rapid and simple method for the detection of 426Pro → Leu mutation by polymerase chain reaction with mismatched primer. Although the 426PrO → Leu mutation does not alter recognition sequence for restriction enzymes, we created a Pst I restriction site using a 3'-primer mismatched at one nucleotide. As a result, the mutation can be detected as a Pst I restriction fragment length polymorphism. (J Child Neurol 1994;9:38-40).
Disseminated Multifocal Herpes Zoster Leukoencephalitis and Subcortical Hemorrhage in an Immunosuppressed Child
Authors: Herrold James M. , Hahn Jin S.
Published: December 2008

We describe a rare case of multifocal varicella-zoster leukoencephalitis in an immunosuppressed adolescent boy who developed a herpetiform rash on his groin and subsequently presented with a subacute encephalopathy, aphasia, and hemiparesis. Magnetic resonance imaging scan of the brain revealed multifocal bihemispheric targetlike lesions predominantly in the white matter. A magnetic resonance imaging scan 2 weeks later showed a subcortical hemorrhage in the left insular region. He received long-term high-dose intravenous acyclovir and had significant improvement in his neurologic status. (J Child Neurol 1994;9:56-58).
Regional Differences in the Critical Period Neurodevelopment in the Mouse: Implications for Neonatal Seizures
Authors: Litzinger Marcia J. , Mouritsen C. Lars , Grover Bruce B. , Esplin M. Sean , Abbott Jeffrey R.
Published: December 2008

The voltage-sensitive calcium channel probe125I-ω-GVIA conotoxin has been shown to be a developmental marker in whole brain preparations of Swiss Webster mice. The present study looks more carefully at regional dissections of the mouse brain (cerebrum, cerebellum, and brain stem) at postnatal day 8 and postnatal day 16.125I-ω-GVIA conotoxin binding, thought to be presynaptic, showed a dramatic increase between postnatal days 8 and 16 in the cerebral cortex, a decrease in the cerebellum, and no change in the brain stem. The dramatic cerebral cortex increases indicated by these binding data correspond to a critical period between postnatal day 11 and postnatal day 14 in Swiss Webster mice; during this critical period, dendrites exhibit rapid outgrowth, sensory modalities come on line, electroencephalographic patterns mature, and the cortex reaches adult proportions. This period parallels a similar initiation of electrical maturation in the 28- to 32-week neonatal human brain. We conclude from these data that the unusual clinical presentation of neonatal seizures is not just the result of immature myelin formation. It includes incomplete synapse formation linking the cortex to the brain stem. (J Child Neurol 1994;9:77-80).
A Hypotonic Infant With Complete Deficiencies of Acid Maltase and Debrancher Enzyme
Authors: Tsao Chang Y. , Boesel Carl P. , Wright Francis S.
Published: December 2008

Infantile acid maltase deficiency is an autosomal recessive disease that invariably leads to death in the first 2 years of life. Debrancher deficiency, also an autosomal recessive disease, however, carries a slowly progressive course. We report a hypotonic infant with a typical clinical course of infantile acid maltase deficiency in whom biochemical investigation revealed complete deficiencies of both acid maltase and debrancher enzyme. (J Child Neurol 1994;9:90-91).
Migraine in the Infant and Toddler
Authors: Barlow Charles F.
Published: December 2008

This report consists of 13 patients who on retrospective analysis had had periodic symptomatology in the first 2 years of life, and who on later evaluation were determined to have juvenile migraine. The commonest early expression consisted of vomiting, accompanied by behavioral change. Seven of 13 showed some indication of headache. Other symptoms such as sleep relief, pallor, and vertigo or ataxia were relatively common. A family history of migraine, primarily maternal, was found in 11 of 12 patients in whom it could be evaluated. (J Child Neurol 1994;9:92-94).
Epilepsy, Language, and Behavior: Clinical Models in Childhood
Authors: Tuchman Roberto F.
Published: December 2008

The complex relationship between epilepsy, language, and behavior is not well understood. Neurologic disorders such as Landau-Kleffner syndrome, electrical status epilepticus during slow-wave sleep, infantile spasms, Lennox-Gastaut syndrome, tuberous sclerosis, autism, and developmental language disorders are useful clinical models in the investigation of this complex relationship. These disorders are reviewed in terms of their contribution to our present knowledge of the relationship between epilepsy, language, and behavior. Present management issues and directions for future research are discussed. (J Child Neurol 1994; 9:95-102).
Pediatric Leptomeningeal Metastasis: 111In-DTPA Cerebrospinal Fluid Flow Studies
Authors: Chamberlain Marc C.
Published: December 2008

Nine children (five girls and four boys) ranging in age from 1 to 18 years (median age, 12 years) with leptomeningeal metastasis were evaluated for cerebrospinal fluid compartmentalization with cerebrospinal fluid flow studies using ventricular diethylenetriaminepentaacetic acid labeled with indium 111 (111In-DTPA). Histologic diagnosis included medulloblastoma (two), primitive neuroectodermal tumor (two), acute lymphoblastic leukemia (two), pineoblastoma (one), ependymoma (one), and anaplastic astrocytoma (one). Sixteen 111In-DTPA cerebrospinal fluid flow studies were performed, of which nine demonstrated normal anterograde cerebrospinal fluid flow of radionuclide, with the following cerebrospinal fluid compartment median times to appearance, with ranges in parentheses: ventricles, 1 minute (0 to 3 minutes); cisterna magna/basal cisterns, 5 minutes (3 to 5 minutes); cervical subarachnoid space, 8 minutes (5 to 10 minutes); thoracic subarachnoid space, 15 minutes (10 to 30 minutes); lumbar subarachnoid space, 35 minutes (20 to 45 minutes); and sylvian cistern, 80 minutes (60 to 90 minutes). Blockage of normal anterograde cerebrospinal fluid flow was seen in seven 111In-DTPA cerebrospinal fluid flow studies in the following cerebrospinal fluid compartments: cervical subarachnoid space (four), lumbar subarachnoid space (two), and cisterna magna/basal cisterns (one). Five 111In-DTPA cerebrospinal fluid flow studies were performed after demonstration of cerebrospinal fluid compartmentalization and treatment with limited-field radiation therapy to involved regions; cerebrospinal fluid flow blocks resolved in three. In conclusion, cerebrospinal fluid compartmentalization, as shown by radionuclide ventriculography, is a common occurrence in pediatric leptomeningeal metastasis (four of nine patients, or 44%) and may be palliated by involved-field radiotherapy. ( J Child Neurol 1994;9:150-154).
Hemispheric Processing and Methylphenidate Effects in Attention-Deficit Hyperactivity Disorder
Authors: Malone Molly A. , Kershner John R. , Swanson James M.
Published: December 2008

To advance our understanding of attention-deficit hyperactivity disorder and medication effects we draw upon the evidence for (1) a neurotransmitter imbalance between norepinephrine and dopamine in attention-deficit hyperactivity disorder and (2) an asymmetric neural control system that links the dopaminergic pathways to left hemispheric processing and links the noradrenergic pathways to right hemispheric processing. It appears that attention-deficit hyperactivity disorder may involve a bihemispheric dysfunction characterized by reduced dopaminergic and excessive noradrenergic functioning. In turn, favorable medication effects may be mediated by a restoration in neurotransmitter balance and by increased control over the allocation of attentional resources between hemispheres. (J Child Neurol 1994;9:181-189).
New Insights Into the Pathogenesis of Congenital Myopathies
Authors: Sarnat Harvey B.
Published: December 2008

Congenital myopathies are developmental disorders of muscle that are best understood in the context of ontogenesis. Segmental amyoplasia results from a defective somite, usually because of lack of induction by the notochord and neural tube; the connective tissue matrix of the muscle is derived from lateral mesoderm and is present, but the myocytes are derived from somitic mesoderm and are replaced by adipose cells. Generalized amyoplasia is due to defective myogenic regulatory genes. X-linked recessive myotubular myopathy is associated with overexpression of vimentin and desmin, fetal intermediate filaments that attach to nuclear, mitochondrial, and inner sarcolemmal membranes and Z-bands of sarcomeres to preserve the morphologic organization of the myotube. Neonatal myotonic dystrophy is a true maturational delay in muscle development. Congenital muscle fiber-type disproportion is a syndrome of multiple etiologies but in some cases is associated with cerebellar hypoplasia and may be the result of abnormal suprasegmental stimulation of the developing motor unit at 20 to 28 weeks' gestation, mediated through bulbospinal pathways but not the corticospinal tract. Maturational delay of muscle in late developmental stages is less specific than in stages before midgestation. The Proteus syndrome is a muscular dysgenesis; abnormal paracrine growth factors and perhaps altered genes that regulate muscle differentiation and growth, such as myoD and myogenin, are the suspected cause. Focal proliferative myositis may be another example of a "paracrine myopathy." (J Child Neurol 1994;9:193-201).
Cocaine Babies: A Result of Multiple Teratogenic Influences
Authors: Snodgrass S. Robert
Published: December 2008

The history of cocaine use is reviewed. Cocaine teratogenesis has only recently been studied, and initial human studies had serious methodological flaws. These flaws included ascertainment bias, publication bias (studies finding cocaine effects have been more likely to be presented or published), and overemphasis on the perinatal period. Comparison with alcohol teratogenesis shows that alcohol is a more potent teratogen, which, however, produces major and specific effects (fetal alcohol syndrome) in less than 10% of offspring with heavy alcohol exposure during pregnancy. Nonspecific minor congenital anomalies or fetal alcohol effects are seen in a larger number. Personal experience with two groups of children exposed to cocaine in utero is reviewed. Insurance patients gained weight, took vitamins, and generally, their children did well in spite of cocaine use. Indigent patients were usually unmarried and often "street people," probably used more cocaine, generally used other drugs as well, often did not gain weight during pregnancy, and were much more likely to have children with problems. Surveys show that most cocaine users also use alcohol, often simultaneously. Those who use both agents are more likely to have troubled backgrounds and antisocial behavior and to drop out of treatment programs than those who use only alcohol. Cocaethylene or ethylbenzoylecgonine is formed in the liver when cocaine and alcohol are simultaneously ingested. It is a potent stimulant and dopamine uptake blocker that is more toxic to myocardial cells than is cocaine. Good nutrition is now known to be very important in preventing congenital anomalies and fetal death. A multihit model of neurologic handicap, which stresses the importance of a good postnatal environment, is briefly outlined. This model explains why cocaine use during pregnancy is more dangerous to the street person who uses multiple drugs than to the middle class mother who takes prenatal vitamins. (J Child Neurol 1994;9:227-233).
Transplacental Cocaine Exposure: A Mouse Model Demonstrating Neuroanatomic and Behavioral Abnormalities
Authors: Kosofsky Barry E. , Wilkins Aaron S. , Gressens Pierre , Evrard Philippe
Published: December 2008

Between 10% and 15% of infants born in urban America today have been exposed to cocaine in utero. Clinical studies have suggested that impairment of brain growth is the single best marker of significant prenatal cocaine exposure, and postnatal developmental compromise seen in a subset of affected children as a consequence of that exposure. We have developed an animal model, in mice, of prenatal cocaine exposure that has allowed us to dissociate the direct effects of cocaine in altering fetal development from the indirect effects associated with cocaine-induced malnutrition. We find that transplacental cocaine exposure independently impairs fetal brain and body growth and results in behavioral deficits and permanent alterations in neocortical cytoarchitecture in exposed offspring. (J Child Neurol 1994;9:234-241).
Topical Review: Basal Ganglia: Functional Anatomy and Physiology. Part 1
Authors: Afifi Adel K.
Published: December 2008

Advances in knowledge about basal ganglia structure and connectivity from 1925 to date are reviewed. Current concepts about neuronal populations, transmitters, and input and output of each of the basal ganglia nuclei are presented. The portrayal by Wilson, in 1925, of the striatum as a simple homogeneous structure has been replaced by the recognition, based on staining characteristics, connectivity, and function, that the neostriatum is compartmentalized into striosomes, matrisomes, and matrix compartments. Electrophysiologic studies have further shown the existence, in the neostriatum, of neuronal clusters that represent basic functional units much like the functional columns described much earlier for the cerebral cortex. Whereas the neostriatum is considered the major receiving area of the basal ganglia, the globus pallidus and substantia nigra pars reticulata constitute the major output nuclei. Combined neuroanatomic and neurophysiologic studies have revealed precise somatotopic organization throughout the basal ganglia system such that the leg, arm, and face areas of the cerebral cortex related to respective topographic areas within the striatum, pallidum, substantia nigra, and subthalamus. The previous concept of an inhibitory role for dopamine on striatal neurons has been modified. It is now acknowledged that dopamine exerts an inhibitory effect on striatal neurons that project to the external pallidum and a facilitatory effect on striatal neurons that project to the internal pallidum and substantia nigra pars reticulata. The previous concept of serial connectivity of the neostriatum (funnel concept) has been replaced by the concept of parallel connectivity. Within the internal connectivity of the basal ganglia, there is a fast system in which the neurotransmitter is γ aminobutyric acid (GABA) and a slow system modulated by neuropeptides. The slow system is believed to give identity to an otherwise homogenous GABAergic system. (J Child Neurol 1994;9:249-260).
Topical Review: Dizziness in Childhood
Authors: Tusa Ronald J. , Saada Ahmed A. , Niparko John K.
Published: December 2008

There is a scant literature regarding vestibular evaluation of children with complaints of dizziness or vertigo. Considerable time and effort are expended on the problem and prevention of hearing loss in children, yet we often ignore concurrent or subsequent vestibular disorders. This neglect could be due to several factors, perhaps the most common being the fact that vertiginous crises in childhood are often attributed to problems of behavior or incoordination. In this article, we offer an approach to the dizzy child based on presenting symptoms. We discuss features of the history, examination, and laboratory evaluation key to determining the cause of dizziness. Finally, we discuss management, which varies according to the diagnosis. (J Child Neurol 1994;9:261-274).
Multicore Myopathy, Microcephaly, Aganglionosis, and Short Stature
Authors: Kim James J. , Armstrong Dawna D. , Fishman Marvin A.
Published: December 2008

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism. (J Child Neurol 1994;9:275-277).
Normal High-Resolution Cerebral 99mTc-HMPAO SPECT Scans in Symptomatic Neonates Exposed to Cocaine
Authors: Konkol Richard J. , Tikofsky Ronald S. , Wells Robert , Hellman Robert S. , Nemeth Penny , Walsh David J. , Heimler Ruth , Sty John R.
Published: December 2008

Vascular constriction is said to account for a variety of clinical effects of cocaine. High-resolution99mTc-hexamethyl-propylene amine oxime single photon emission computed tomographic (SPECT) scans, which measure cerebral blood flow, were used to determine whether neonatal brain perfusion deficits are present in newborns with confirmed cocaine exposure. Normal, age-appropriate SPECT scans were found in 21 babies. Conventional neuroimaging was also performed when possible. All but one of the 14 magnetic resonance imaging (MRI) scans and one computed tomographic scan were normal. One MRI showed a mild delay in myelination. All but four neonates had behavioral or electroencephalographic abnormalities, and microcephaly was found in five of 21. The normal neonatal SPECT scans contrast with findings in adult cocaine users, which typically report abnormal findings of cerebral hypoperfusion. This study identifies a unique lack of corresponding cerebral vascular pathology in symptomatic neonates. It raises the possibility that many of these children can escape significant ischemic injury. (J Child Neurol 1994;9:278-280).
The Significance of Atypia and Histologic Malignancy in Pilocytic Astrocytoma of the Cerebellum: A Clinicopathologic and Flow Cytometric Study
Authors: Tomlinson Francis H. , Scheithauer Bernd W. , Hayostek Cherie J. , Parisi Joseph E. , Meyer Fredric B. , Shaw Edward G. , Weiland Timothy L. , Katzmann Jerry A. , Jack Clifford R.
Published: December 2008

Biologically malignant pilocytic astrocytomas are rare. Precise morphologic criteria permitting their identification and clinically meaningful distinction from more ordinary pilocytic astrocytomas have not been developed. The histologic grading schemes applied to fibrillary astrocytomas—ones based on nuclear atypia, increased cellularity, mitotic activity, endothelial proliferation, and necrosis—are thought not to correlate with prognosis in pilocytic astrocytomas. Nonetheless, these features were systematically sought in 107 cerebellar pilocytic astrocytomas, four of which were histologically malignant. The clinical, morphologic, and flow cytometric features of these cases were studied. The incidence of histologic malignancy occurring spontaneously in otherwise typical pilocytic astrocytomas was 0.9%; that occurring after radiation was 1.8%. The four histologically malignant tumors occurred in two males and two females, ages 6 to 18 years. All showed increased mitotic activity (three to five mitoses per high-power microscopic field [250×]). Endothelial proliferation and necrosis were present in three and two cases each. DNA ploidy analysis showed the spontaneously occurring malignant-appearing tumors to be aneuploid, whereas both previously radiated tumors were tetraploid; 5% to 11% of cells were in S phase. The appearance of histologic malignancy in pilocytic astrocytoma is rare and less reliably correlated with prognosis than in patients with fibrillary astrocytomas. Essential features of such tumors include a high mitotic index and perhaps a high percentage of cells in S phase. (J Child Neurol 1994;9:301-310).
Thrombocytopenia Secondary to High Valproate Levels in Children With Epilepsy
Authors: Delgado Mauricio R. , Riela Anthony R. , Mills Janith , Browne Richard , Roach E. Steven
Published: December 2008

We reviewed the frequency of valproate-induced thrombocytopenia in children with epilepsy in our institution. Sixty-four (21%) of 306 children taking valproate developed thrombocytopenia. Thirty-two of these 64 patients had at least one platelet count lower than 100 × 103/mm3. Eight patients developed signs of bleeding. Low platelet levels were typically noted in patients with serum valproate levels of over 140 μg/mL, and reduction of the medication dose usually resulted in a prompt increase in the number of platelets. Only one patient developed thrombocytopenia unrelated to high serum drug levels, and her platelet count did not improve until the drug was discontinued. Neither the age of the patient nor the use of additional antiepileptic medication correlated with the platelet count. However, duration of valproate use was related. These data suggest that, although valproate may cause thrombocytopenia via more than one mechanism, by far the most common factor is the presence of high valproate levels. Thus, the medication can be safely lowered in most patients with thrombocytopenia rather than discontinued altogether. Platelet counts should probably be monitored more carefully in patients known to have higher drug levels. (J Child Neurol 1994;9:311-314).
Altered Energy Balance May Account for Growth Failure in Rett Syndrome
Authors: Motil Kathleen J. , Schultz Rebecca , Brown Bridgette , Glaze Daniel G. , Percy Alan K.
Published: December 2008

To determine whether alterations in energy balance account for growth failure in Rett syndrome, we measured dietary energy intakes, fecal fat losses, activity patterns, and sleeping as well as quietly and actively awake metabolic rates in Rett syndrome girls and healthy controls. Dietary energy intakes and fecal fat losses did not differ between the groups. Metabolic rates while sleeping and quietly awake were 23% lower (P < .05) in Rett syndrome girls than in controls; metabolic rates while actively awake did not differ between the groups. However, because of the 2.4-fold greater time (P < .001) spent in involuntary motor movement, energy expenditure associated with activity was twofold greater (P < .05) in Rett syndrome girls than in controls. Although total daily energy expenditure of the two groups did not differ significantly, energy balance was less positive in the Rett syndrome girls than in the controls. This small difference in energy balance, if sustained over months to years, is sufficient to account for growth failure in Rett syndrome girls. (J Child Neurol 1994;9:315-319).
Topical Review: Basal Ganglia: Functional Anatomy and Physiology. Part 2
Authors: Afifi Adel K.
Published: December 2008

Advances in knowledge about basal ganglia function and circuitry are reviewed. Despite the voluminous available literature on this subject, the role of basal ganglia in health and disease remains controversial. Experimental data on the effects of stimulation and ablation of the basal ganglia are summarized. The roles of the basal ganglia in the preparation for and execution of cortically initiated movement are described. Newer roles ascribed to the basal ganglia in sensory-motor gating, cognition, emotion, and motivation are discussed. The old and current concepts of information flow between the cerebral cortex, striatum, pallidum, thalamus, and back to the cerebral cortex are reviewed. The "funnel" system of information flow has been discarded in favor of several parallel and largely segregated loops pertaining to motor, oculomotor, cognitive, and limbic functions. The anatomic substrate of each of these loops is described. The specific roles of the striatum, pallidum, substantia nigra, and thalamus in information flow as related to movement are described. The roles of the basal ganglia in reinforcing wanted behavior and suppressing unwanted behavior via direct and indirect striatal loops are discussed. The implications of these loops in the genesis of Parkinson's disease and Huntington's chorea are described. Alteration in basal ganglia neurotransmitters and neuromodulators in Huntington's chorea, Tourette's syndrome, and Parkinson's disease are described. (J Child Neurol 1994;9:352-361).
Neuropsychological Profile of Children With Neurofibromatosis, Brain Tamor, or Both
Authors: Moore Bartlett D. , Ater Joann L. , Needle Michael N. , Slopis John , Copeland Donna R.
Published: December 2008

Neurofibromatosis type 1, a common autosomal dominant genetic disorder, is associated with numerous physical and medical anomalies as well as an increased incidence of learning disability. Tumors of the central nervous system have been estimated to occur in 15%, but their contribution to neuropsychological status is unknown. This study examines the relative contribution of neurofibromatosis and brain tumor to the cognitive profile of children with neurofibromatosis. A comprehensive battery of neuropsychological and behavioral tests was administered to a group of 65 children with neurofibromatosis type 1. Fourteen were then matched on demographic variables with two other groups of children who had either a brain tumor in addition to neurofibromatosis or a brain tumor alone. The two brain tumor groups were also matched on tumor type, location, and therapy. Mean scores of the neurofibromatosis-brain tumor group were generally the lowest of the three groups; those of the brain tumor group were highest, and performance of the neurofibromatosis group was generally between the other two groups. These results suggest that neurofibromatosis is, by itself, associated with significant cognitive morbidity, but that the severity of the problems is increased somewhat if a brain tumor is also present. (J Child Neurol 1994;9:368-377).
Sanfilippo Type D Presenting With Acquired Language Disorder but Without Features of Mucopolysaccharidosis
Authors: Ozand P.T. , Thompson J.N. , Gascon G.G. , Sarvepalli S.B. , Rahbeeni Z. , Nester M.J. , Brismar J.
Published: December 2008

A 7-year-old girl presented with a language disorder reminiscent of verbal auditory agnosia. Later, she proved to have defective N-acetylglucosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syndrome. She did not show clinical features of mucopolysaccharidosis. The language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy. (J Child Neurol 1994;9:408-411).
The Relationship Between Joint Hypermobility and Neurodevelopmental Attributes in Elementary School Children
Authors: Davidovitch Michael , Tirosh Emanuel , Tal Yoram
Published: December 2008

Joint hypermobility is associated with motor developmental delay in infancy. To assess this finding in school-aged children, 320 first- and second-grade elementary school children and 110 children attending a special education program were assessed. Joint hypermobility was found in 40 (12.4%) and seven (6.4%) of the children attending the regular and special education classes, respectively. No difference in the neurologic status or verbal and eye-hand coordination task performance was found between the children of the study group and their age- and sex-matched controls. It appears that joint hypermobility and neurodevelopmental dysfunctions are not causally related and have a different maturational course. (J Child Neurol 1994;9:417-419).
Infantile Spasms: An Early Epileptic Manifestation in Some Patients With the Congenital Bilateral Perisylvian Syndrome
Authors: Kuzniecky Ruben , Andermann Frederick , Guerrini Renzo
Published: December 2008

We report four patients with infantile spasms and the congenital bilateral perisylvian syndrome. Onset of spasms occurred during the first 6 months of life. Response to corticotropin treatment was prompt and resulted in resolution of seizures in all patients. Epilepsy developed in the four children after an interval of 2 to 12 years. Developmental outcome was variable; three were severely restricted and one was married and lived independently. Imaging studies revealed bilateral perisylvian lesions characteristic of polymicrogyria. Infantile spasms may be the presenting seizure type in some patients with the congenital bilateral perisylvian syndrome. (J Child Neurol 1994;9:420-423).
Neuropathology of Rett Syndrome: Case Report With Neuronal and Mitochondrial Abnormalities in the Brain
Authors: Cornford Marcia E. , Philippart Michel , Jacobs Bob , Scheibel Arnold B. , Vinters Harry V.
Published: December 2008

Neuronal changes in the brain of a Rett syndrome patient were examined in a frontal lobe biopsy performed at age 3 years and in the postmortem brain at age 15 years. In the brain biopsy, frontal cortex contained numerous scattered pyramidal neurons with cytoplasmic vacuolation and increased cytoplasmic density, with no neuronophagia or inflammation detected; electron microscopy showed these neurons to have large, lucent-appearing mitochondria, very abundant ribosomal content, and some lipofuscin granules. Postmortem brain 12 years later showed scattered neurons in frontal cortex, substantia nigra, and cerebellar folia, with increased electron density of the cytoplasm, stacks of ribosomal endoplasmic reticulum, and large amounts of disorganized membranous material, including autophagic-type organelles. Mitochondria of these neurons contained electron-dense, finely granular matrix inclusions; in the substantia nigra, some spherical mitochondrial inclusions completely filled the matrix space. Golgi preparations of (autopsy) frontal cortex and cerebellar folia showed truncation and thickening of dendrites and a degenerate appearance of cortical pyramidal neurons, similar to changes found in aged brain. Synaptophysin immunohistochemistry indicated that the density of synapses was not greatly altered compared to controls in frontal cortex and cerebellum. The patient also had a second genetic defect, severe combined immunodeficiency with thymic aplasia, which may be X-linked. (J Child Neurol 1994;9:424-431).
MRI, Clinical, and Biochemical Features of Partial Pyruvate Carboxylase Deficiency
Authors: Higgins Joseph J. , Glasgow Allen M. , Lusk Marilyn , Kerr Douglas S.
Published: December 2008

We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of skin fibroblasts, lymphocytes, and hepatic tissue. Magnetic resonance imaging at age 20 months demonstrated a leukodystrophic process involving the brain stem and subcortical white matter, which, except for the brain stem, improved after biotin treatment. The lymphocyte pyruvate carboxylase activity of both heterozygous parents slightly increased after receiving oral biotin for 1 month, but a definitive enzymatic response to biotin was not confirmed in our patient. At age 6 years, he is dysarthric with a spastic quadriparesis despite improvements in development and myelination. This is the first demonstration of magnetic resonance imaging changes in this disease. (J Child Neurol 1994;9:436-439).
Are the Pupils of Premature Infants Affected by Intraventricular Hemorrhage?
Authors: Isenberg Sherwin J. , Vazquez Marisel
Published: December 2008

The size and reactivity to light of the pupil in infants with intraventricular hemorrhage has been variously described in the literature. These descriptions have included miosis, reactivity to light, nonreactivity to light, and anisocoria. We studied the size and light reactivity of 20 infants with intraventricular hemorrhage compared with 30 controls. Both groups displayed a mean pupil diameter in relative darkness of 3.0 to 4.0 mm at various postconceptional ages (P > .05). The age of first response to light was about 30 weeks after conception in each group (P > .05). The severity of intraventricular hemorrhage as determined by ultrasound was not related to the pupil diameter in relative darkness. In general, the pupils of neonates are not affected by intraventricular hemorrhage. (J Child Neurol 1994;9:440-442).
Abnormal Somatosensory Evoked Potentials in Patients With Classic Galactosemia: Correlation With Neurologic Outcome
Authors: Ratner Kaufman Francine , Horton Elizabeth J. , Gott Peggy , Wolff Jon A. , Nelson Marvin D. , Azen Colleen , Manis Franklin R.
Published: December 2008

In classic galactosemia, long-term neurologic sequelae can include low cognitive functioning and a curious neurologic syndrome with tremors, dysmetria, and ataxia. An abnormal white-matter signal on cerebral magnetic resonance imaging (MRI) is present in almost all patients; some have mild cerebral or cerebellar atrophy and focal white-matter lesions. The present study was undertaken to assess the integrity of myelinated pathways by recording somatosensory evoked potentials. Results were correlated with age at diagnosis, severity of illness, age at evoked potentials, neurologic examination, MRI studies and cognitive outcome as measured by the Woodcock-Johnson Revised Standard Cognitive Battery. Evoked potentials were abnormal in 17 (28%) of 60 patients who had median nerve, and 26 (77%) of 34 patients who had posterior tibial nerve studies. Abnormalities of the central rather than the peripheral nervous system were most common. Evoked potentials correlated with severity of presenting symptoms (P = .011), age at evoked potential testing (P = .029), and presence of focal white-matter lesions on MRI (P = .049). Results of neurophysiologic testing showed no correlation with the Woodcock-Johnson Battery. Patients with classic galactosemia may have abnormal conduction along myelinated pathways that is associated with other central deficits. Myelin, which contains galactose, may be adversely affected in this inborn error of metabolism. (J Child Neurol 1995;10:32-36).