bluuebunny/crossref_metadata_2025 huggingface dataset:
Myalgia and Cramps: Dystrophinopathy With Wide-Ranging Laboratory Findings
Authors: Samaha Frederick J. , Quinlan John G.
Published: December 2008

We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four of the 12 patients had normal serum creatine kinase levels, and four others had only mild elevations (less than twice the upper limit of normal). These patients establish an identifiable dystrophinopathy of adolescent boys and young men that can present with muscle pain and, in some cases, normal routine laboratory evaluations. (J Child Neurol 1996;11:21-24).
Neurologic and Ophthalmologic Findings in Children Exposed to Cocaine in Utero
Authors: Tsay Cindy H. , Partridge J. Colin , Villarreal Sylvia F. , Good William V. , Ferriero Donna M.
Published: December 2008

We studied a cohort of 73 children exposed to cocaine in utero to characterize the spectrum of neurologic and ophthalmologic abnormalities; 36 children with no documented in utero drug exposure were selected as a control group. Most referrals of cocaine-exposed children to the child neurologist were made in the 1st year of life (81%). Reasons for referral were hypertonia (29%), seizures (22%), developmental delay (11%), tremulousness (11%), and hypotonia (4%). The most common abnormal finding in the cocaine-exposed children was hypertonia/hyperreflexia (63%), which was rarely seen in the control group. In addition, hypertonia/hyperreflexia was underdiagnosed by referring physicians. Similarly, hypotonia was seen on neurologic examination of cocaine-exposed children more frequently than documented by referral (16% versus 4%). Hypotonia was rarely seen in the control group. Twelve (43%) of 28 cocaine-exposed children seen by a pediatric ophthalmologist had structural ophthalmologic abnormalities. Neurologic and ophthalmologic findings suggesting structural lesions of the nervous system must be considered in cocaine-exposed children. (J Child Neurol 1996;11:25-30).
Valproic Acid Treatment of Learning Disorder and Severely Epileptiform EEG Without Clinical Seizures
Authors: Gordon Kevin , Bawden Harry , Camfield Peter , Mann Shelley , Orlik Phyllis
Published: December 2008

Using a single-patient (n = 1) clinical trial, we studied a 7-year-old boy who presented with unsatisfactory progress in school and whose electroencephalogram had very active independent frontal spike discharges. He had not had clinical seizures. The patient was randomized to receive valproic acid, 125 mg twice daily, (four periods) or matching placebo (four periods) over 8 weeks. Primary endpoints were the Wechsler Intelligence Scale for Children-Revised Coding subtest and a handwriting sample. Behavior was monitored using teacher's and parent's Conners questionnaires. His score on the Wechsler Intelligence Scale for Children-Revised Coding subtest was significantly improved while he was taking valproic acid (P = .03). His electroencephalogram improved from a pretreatment recording of 28 spike discharges per minute to a normal recording while on valproic acid. We conclude that in this patient, valproic acid had a cognitive enhancing effect, probably by reducing epileptiform discharges. (J Child Neurol 1996;11:41-43).
Amylaceous (Polyglucosan) Bodies in Familial Cerebral Atrophy of Early Onset
Authors: de León Guillermo A. , Crawford Susan E. , Stack Cynthia , Darling Crystal F. , Johnson G. Stephan
Published: December 2008

An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was fol lowed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atrophy in both patients. Postmortem examination in the older sibling showed diffuse atrophy of the supragranular layers of the cerebral cortex, atrophy and gliosis of the white matter, and accumulation of numerous amylaceous (polyglucosan) bodies within the cytoplasm of cell processes. The inclusions were closely associated with atrophy of the parenchyma. The findings suggest that this disorder is different from other childhood diseases in which amylaceous bodies accumulate within the brain. (J Child Neurol 1996;11:58-62).
Neurologic Findings in Children and Adults With Williams Syndrome
Authors: Chapman Catherine A. , du Plessis Adre , Pober Barbara R.
Published: December 2008

Twenty-four children with Williams syndrome underwent systematic neurologic evaluations. Abnormalities of mental status, motor coordination, tone, and gait were most prevalent. Tone abnormalities varied as a function of age, with younger children frequently exhibiting decreased tone and older subjects almost exclusively having increased tone. The gait and coordination abnormalities persisted among older subjects, indicating that they were not simply maturational problems. Physicians caring for such youngsters need to be aware that a variety of neurologic abnormalities are common in Williams syndrome and may change or progress over time. Neurologic examinations that reveal findings beyond the typical pattern that we report may raise suspicion for added neurologic insult and warrant further investigation. (J Child Neurol 1995;10:63-65).
Physicians' Attitudes Regarding Down Syndrome
Authors: Hermann Robert , Méhes Károly
Published: December 2008

We conducted a representative survey to obtain current information about attitudes of pediatricians, child neurologists, and pediatric surgeons in Hungary regarding Down syndrome. The findings are compared to those of a similar study from Canada. In the treatment of mentally handicapped newborns, none of the Hungarian doctors would choose active euthanasia; only a few percent would perform passive euthanasia. Hungarian doctors give priority to the hospital-based ethical committee in the decision-making process regarding the treatment versus nontreatment of a newborn with major congenital anomalies. In contrast to the Canadians, only a few doctors would discuss this question with parents and nurses. Most Hungarian physicians are not aware of legal regulations in this field. These attitudes can be explained by religious and cultural traditions different from the Canadian and Western European standards. The Hungarian medical community, like other Eastern European countries, is much more authoritative than the Canadian system. Furthermore, the appropriate legal regulations are not yet properly codified. (J Child Neurol 1996;11:66-70).
Pediatric Ulnar Mononeuropathy: Report of 21 Electromyography-Documented Cases and Review of the Literature
Authors: Felice Kevin J. , Royden Jones H.
Published: December 2008

Pediatric ulnar mononeuropathies are the most frequent upper extremity mononeuropathies seen in the electromyography laboratory at The Children's Hospital, Boston. Twenty-one children (12 boys and nine girls) with pediatric ulnar mononeuropathy, aged 5 to 18 years, were seen from 1979 to 1991. The causes included acute trauma in 11 children (52%), compression in five children (24%), entrapment in three children (14%), and indeterminate in two children (10%). The sites of nerve injury included the elbow in 10 children (48%), forearm in three children (14%), wrist in five children (24%), hand in one child (4%), and indeterminate in the remaining two children (10%). Prognosis is more favorable in nontraumatic (83% improved) pediatric ulnar neuropathies than with traumatic lesions (56% improved), with at least a 1-year follow-up. (J Child Neurol 1996; 11: 116-120).
Use of a Brief Assessment Examination in a Study of Subacute Sclerosing Panencephalitis
Authors: Nester Michael J.
Published: December 2008

Subacute sclerosing panencephalitis is a degenerative disease affecting children and young adults that remains a distinct and relatively frequent problem in developing countries worldwide. Recent advances in treatment prompted a study at King Faisal Specialist Hospital, Riyadh, Saudi Arabia, using oral isoprinosine and intraventricular α-interferon. Initially, the Neurological Disability Assessment and Index was used for tracking patient progress. However, an additional means of assessment was deemed necessary and the Brief Assessment Examination was devised. Largely cognitive based, the Brief Assessment Examination appeared to be more sensitive to mental status changes than the Neurological Disability Assessment and Index, though it correlated modestly with the Neurologic Disability Assessment and Index and more strongly with staging. In addition, the Brief Assessment Examination can be administered by technician-level staff with a minimum of training. Though more study is needed, preliminary findings suggest that the Brief Assessment Examination should be a useful tracking tool for subacute sclerosing panencephalitis, particularly in the developing world. (J Child Neurol 1996;11:173-180).
Vulnerability of the Infant Brain Stem to Ischemia: A Possible Cause of Sudden Infant Death Syndrome
Authors: Pamphlett Roger , Murray Nichole
Published: December 2008

In infants, extreme extension or rotation of the head can occlude one or both vertebral arteries. We sought to determine whether small communicating arteries or asymmetric vertebral arteries could predispose the brain stem to ischemia should such head movements occur. In 68 infants, the carotid, posterior communicating, precommunicator posterior cerebral, basilar and vertebral arteries were fixed in formalin, embedded in resin, the circumferences measured by image analysis, and the relative conductance of blood in each artery per gram of brain calculated. Conductance in the vertebrobasilar and carotid systems lagged behind increases in brain weight during the postnatal growth spurt. In 81% of infants, conductance through the communicating arteries was less than 25% of basilar artery conductance. Conductance in one vertebral artery was less than half that of the contralateral artery in 41% of infants. In conclusion, the lag in available blood flow and small communicating and asymmetric vertebral arteries may predispose the infant brain stem to ischemia if one or both vertebral arteries are occluded by head rotation or extension. Because these head movements are likely to be accentuated in the prone sleeping position (a risk factor for sudden infant death syndrome), we suggest that vertebral artery occlusion may underlie some cases of sudden unexpected infant death. (J Child Neurol 1996;11:181-184).
Long-Term Outcome of Fetal Hydrocephaly
Authors: Kirkinen Pertti , Serlo Willy , Jouppila Pentti , Ryynänen Markku , Martikainen Anneli
Published: December 2008

Long-term outcome of 25 fetuses with ventriculomegaly diagnosed before delivery who survived the neonatal period up to school age was examined at 10.1 (standard deviation, 2.6) years of age. Twelve children had normal motor and mental development, seven were severely handicapped, and six showed intermediate outcome. The fetuses with severe handicaps on long-term follow-up had more severe ventricular dilation than the fetuses with good long-term outcomes. Eighteen of the children had surgical treatment, and seven of them had normal long-term development. Thirty percent of surviving fetuses with ventriculomegaly have poor long-term outcomes. In isolated progressive ventriculomegaly, early delivery as soon as fetal lung maturity allows might be reasonable for achievement of better long-term prognosis. (J Child Neurol 1996;11:189-192).
Severity of Medical and Neurologic Complications as a Determinant of Neurodevelopmental Outcome at 6 and 12 Months in Very Low Birth Weight Infants
Authors: Anderson Anne E. , Wildin Susan R. , Woodside Marilyn , Swank Paul R. , Smith Karen E. , Denson Susan E. , Miller Cynthia L. , Butler Ian J. , Landry Susan H.
Published: December 2008

Very low birth weight (n = 154) and term infants (n = 119) had neurologic and developmental assessment at 6 and 12 months of age. Preterm infants with severe neonatal complications were considered to be at high risk, and those with milder complications were considered to be at low risk, for neurodevelopmental abnormality. Compared to term infants, high- and low-risk infants had abnormalities at 6 months in total neurologic score, cranial nerves, motor tone, motor coordination, and reflexes (P < .001). At 12 months, all groups had improved. However, high-risk infants had persistent abnormalities in the same subcategories (P < .001), whereas low-risk infants differed from term infants only in motor tone (P < .001). Bayley developmental scores were different for all groups at 6 months (P < .001), but at 12 months only high-risk infants differed from term infants (P < .01). These results demonstrate improvement in neurologic and developmental scores over time in very low birth weight infants. The degree of neurodevelopmental abnormality and improvement over time is related to severity of neonatal complications in preterm infants. (J Child Neurol 1996;11:215-219).
Topical Review: Functional Anatomy of Human Hippocampal Formation and Related Structures
Authors: Braak Heiko , Braak Eva , Yilmazer Deniz , Bohl Jurgen
Published: December 2008

Data on the internal organization, and neuronal connections of the human hippocampal formation and related structures of the limbic system are briefly reviewed. In the healthy brain, somatosensory, visual, and auditory input proceeds through neocortical core and belt fields to a variety of association areas, and from here the data is transported via long cortico-cortical pathways to the extended prefrontal association cortex. Tracts generated from this highest organizational level of the brain guide the data via the frontal belt (premotor cortex) to the frontal core (primary motor area). The striatal and cerebellar loops provide the major routes for this data transfer. The main components of the limbic system (the hippocampal formation, the entorhinal region, and the amygdala) maintain a strategic position between the sensory and the motor association areas. Part of the stream of data from the sensory association areas to the prefrontal cortex branches off and eventually converges on the entorhinal region and the amygdala. These connections establish the afferent leg of the limbic loop. In addition, the limbic centers receive substantial input from nuclei processing viscerosensory information. The entorhinal region, the hippocampal formation, and the amygdala are densely interconnected. Important among these connections is the perforant path, which originates in the entorhinal cortex and projects to the hippocampal formation (fascia dentata, Ammon's horn, and subiculum). The subiculum projects to the amygdala, entorhinal region, mamillary nuclei, and anterior and midline thalamic nuclei. The hippocampal formation, the entorhinal region, and the amygdala generate the efferent leg of the limbic loop, which is directed toward the prefrontal cortex. Additional projections reach the key nuclei that control endocrine and autonomic functions. Furthermore, the amygdala exerts influence on all nonthalamic nuclei projecting in a nonspecific manner to the cerebral cortex (ie, the cholinergic magnocellular forebrain nuclei, the histaminergic tuberomamillary nucleus, the dopaminergic nuclei of the ventral tegmentum, the serotonergic anterior raphe nuclei, and the noradrenergic locus ceruleus). The limbic loop centers thus are in the unique strategic position to perform integration of exteroceptive sensory data of various sources with interoceptive stimuli from autonomic centers. Their efferent projections exert influence on both the prefrontal association cortex and the key centers controlling endocrine and autonomic functions. (J Child Neurol 1996;11:265-275).
Global Cerebral Dysplasia Due to Dysplasia and Hyperplasia of Periventricular Germinal Cells
Authors: Shaw Cheng-Mei , Alvord Ellsworth C.
Published: December 2008

Complete obliteration of the cerebral ventricular cavities has not been previously described as an entity among central nervous system malformations. Markedly disorganized maldevelopment of the deep cerebral nuclei and moderately disorganized maldevelopment of the cerebral cortex were observed in the brains of two cases, a 3-year-old female and a male newborn infant. One showed complete and the other partial obliteration of the lateral and third ventricles. Both showed severe maldevelopment of the basal ganglia, which were represented by a large central mass consisting of randomly distributed multiple nodules of gray matter without any discernible differentiation into lenticulostriate nuclei, thalamus, or hypothalamus. Minor malformations involved the cerebral cortex, cerebellum, and mesencephalon to varying degrees. Each of the above two cases was thought to be unique and different until the brain of a fetus of 155 days' gestation was studied. This fetal brain showed exuberant and disorganized periventricular proliferation and migration of germinal matrix cells, with obliteration of the lateral and third ventricles. It was concluded that hyperplasia and disorganized migration of the periventricular germinal matrix early in gestation of whatever cause itself can result in severe maldevelopment of the deep cerebral nuclei and obliteration of the ventricular cavities. (J Child Neurol 1996;11:313-320).
Altered Cognitive Functioning in Children With Idiopathic Epilepsy Receiving Valproate Monotherapy
Authors: Legarda S.B. , Booth M.P. , Fennell E.B. , Maria B.L.
Published: December 2008

Once a child is diagnosed with epilepsy, a primary concern is whether or not the child's behavior and cognitive abilities will be affected by the disease, by the drug prescribed for seizure control, or both. Direct cognitive effects by the epileptic condition have been described. On the other hand, cognitive effects in epilepsy have been attributed to antiepileptic drug therapy. Valproate is an antiepileptic drug of choice in managing the commonest childhood epilepsy syndromes. Although frequently prescribed in pediatric neurology practice, there have been relatively few studies investigating the cognitive effects of valproate therapy in children. Cognitive effects of valproate reported in normal adult volunteers and in adults with epilepsy cannot be generalized to the pediatric population. The results of investigations on children are less conclusive. Guidelines for antiepileptic drug trials in children have recently been formulated. Carefully designed studies are required in determining the cognitive effects of valproate in the pediatric population. Neuropsychological measures that are likely to assess subtle changes in higher brain functions crucial to learning in children should be employed. We propose a test battery to assess for cognitive changes associated with anticonvulsant therapy in children. (J Child Neurol 1996;11:321-330).
Postinflammatory Hydrocephalus and Intracranial Mass Lesion From Candida in an Immunocompetent Child
Authors: Mason Thornton B.A. , Chiriboga Claudia A. , Cargan Abba L. , Hauger Sarmistha B. , La Russa Philip S. , Glick Rachel S. , Carmel Peter W. , Khandji Alexander G. , De Vivo Darryl C.
Published: December 2008

Central nervous system Candida infection may occur in systemic Candida infection when host defenses are impaired. We report here a 20-month-old boy with normal immune status and no history of immunosuppressive therapy who developed left facial weakness, decreased left hand strength and coordination, and worsening gait. This paper describes the diagnostic procedures and management strategies employed in this unique case.
How Do Cryptogenic and Symptomatic Infantile Spasms Differ? Review of Biochemical Studies in Finnish Patients
Authors: Riikonen Raili S.
Published: December 2008

Infants with cryptogenic infantile spasms seem to differ from those with symptomatic spasms in having a higher cerebrospinal fluid corticotropin content, different levels of corticotropin release after exogenous vasopressin, higher serum levels of progesterone, higher dehydroepiandrosterone:androstenedione ratio (during corticotropin therapy), a higher cerebrospinal fluid γ-aminobutyric acid content, and higher cerebrospinal fluid nerve growth factor concentrations. It remains to be seen whether the biochemical differences between the two groups are specific or only happen to correlate with the early brain damage. However, these differences would explain many pathophysiologic features of infantile spasms. (J Child Neurol 1996; 11: 383-388).
CTG Repeat Size and Histologic Findings of Skeletal Muscle From Patients With Congenital Myotonic Dystrophy
Authors: Tachi Nobutada , Kozuka Naoki , Ohya Kazuhiro , Chiba Shunzo , Kikuchi Kokichi
Published: December 2008

An approximate correlation has been demonstrated between the degree of CTG repeat expansion and clinical severity among myotonic dystrophy patients. Congenital myotonic dystrophy, which is the most severe form of the disease, has the largest size of CTG repeat. Muscle immaturity is a characteristic finding in congenital myotonic dystrophy muscle. We compared the CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy. An 8.6 kb or 9.8 kb plus an expanding band ranging from 15 kb to 17.5 kb was observed in muscle from five patients with congenital myotonic dystrophy by Southern blot analysis using EcoRI-digested DNAs probed with p5B1.4. There was no correlation between immaturity of skeletal muscle and the degree of CTG repeat expansion on skeletal muscle. Undetermined maternal factors may have an important role in the cause of immaturity of muscle in congenital myotonic dystrophy patients. (J Child Neurol 1996; 11:430-432).
Glucose Metabolism in the Human Cerebellum: Anatomical-Functional Correlations
Authors: Shamoto Hiroshi , Chugani Diane C. , Chugani Harry T.
Published: December 2008

Functional maturation of human cerebellar structures was previously difficult to evaluate with positron emission tomography (PET) because of scanner resolution. Only vermis and cerebellar hemispheres could be reliably identified with 2-deoxy-2[18F]fluoro-D-glucose (FDG) PET. In the present study, we have used a new high resolution PET system, the Siemens EXACT-HR, to study, in depth, the patterns of glucose metabolism in various cerebellar structures. Due to the orientation of the cerebellar fissures which are important landmarks, the largest number of regions could be identified when the cerebellar regions were displayed on coronal planes. The high resolution PET images, together with magnetic resonance imaging (MRI) data and standard atlases, now allow identification of the following cerebellar structures: anterior vermis, posterior vermis, dentate nucleus, anterior lobe, posterior quadrangular lobule, superior semilunar lobule, inferior semilunar, gracile, and biventer lobules, tonsil, and cerebellar white matter. These cerebellar regions are displayed in an atlas format together with magnetic resonance images to allow easy identification. The present study is a prerequisite for detailed PET analyses of cerebellar metabolism in children with diseases of the cerebellum. (J Child Neurol 1996;11:451-457).
Gabapentin in Naive Childhood Absence Epilepsy: Results From Two Double-Blind, Placebo-Controlled, Multicenter Studies
Authors: Trudeau Virginia , Myers Sharie , LaMoreaux Linda , Anhut Henning , Garofalo Elizabeth , Ebersole John
Published: December 2008

Efficacy and safety of gabapentin monotherapy were evaluated in 33 children with newly diagnosed absence epilepsy in two identical, double-blind, placebo-controlled trials in which a 2-week double-blind treatment phase was followed by a 6-week open-label phase. Primary efficacy criterion was seizure frequency change from baseline to end of double-blind treatment derived from quantified electroencephalograms. Primary efficacy analyses compared treatment differences in the 2-week double-blind phase. Gabapentin did not significantly decrease or increase seizure frequency compared with placebo. Low dosages with possibly subtherapeutic plasma levels may have contributed to the lack of demonstrable efficacy. Somnolence and dizziness were the only adverse events reported by at least two patients during gabapentin treatment. No clinically important changes in laboratory assessments or other safety parameters were observed. Gabapentin monotherapy at dosages ranging from 9.7 through 19.1 mg/kg/day is well tolerated in pediatric patients aged 4 through 12 years with absence epilepsy. (J Child Neurol 1996;11:470-475).
Topical Review: Gene Therapy for Neurologic Disease: Benchtop Discoveries to Bedside Applications. 1. The Bench
Authors: Maria Bernard L. , Medina Carlos D. , Hoang Karin B.N. , Phillips M. Ian
Published: December 2008

The overall goal of this review is to provide the pediatric neurologist with a theoretical foundation in gene therapy. Gene therapy became feasible in the early 1970s and the first transfer of a foreign gene into humans was approved by the NIH in 1989. Adenovirus, adeno-associated virus, herpes-simplex virus, retroviruses, and other vectors have been used to efficiently transduce genes into cells in vitro and in vivo. We discuss laboratory experiments that have provided a strong scientific rationale for implementing human clinical trials of gene therapy for neurologic malignancy. The development of viral and nonviral vectors that mediate efficient gene insertion into human cells has created the prospect of using gene therapy for cancer or brain disease. The NIH has approved more than 100 gene therapy protocols since 1989. However, the field will require more research on gene delivery systems before gene therapy becomes an established therapeutic strategy for an array of central nervous system diseases. (J Child Neurol 1997;12:1-12).
D-2-Hydroxyglutaric Aciduria: Hypotonia, Cortical Blindness, Seizures, Cardiomyopathy, and Cylindrical Spirals in Skeletal Muscle
Authors: Baker Noel S. , Sarnat Harvey B. , Jack Rhona M. , Patterson Kathleen , Shaw Dennis W. , Herndon S. Paul
Published: December 2008

An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy of this rare organic aciduria that differs clinically and genetically from the more common L-2-hydroxyglutaric aciduria. Her clinical features included mildly dysmorphic facies, developmental delay, generalized hypotonia, myoclonic seizures, cortical blindness, and dilated cardiomyopathy requiring treatment. Muscle biopsy demonstrated only excessive glycogen histochemically, but ultrastructural examination revealed subsarcolemmal cylindrical spirals and normal mitochondria. Because of the metabolism of D-2-hydroxyglutaric aciduria, we regard valproic acid as contraindicated in the treatment of epilepsy in this disease. (J Child Neurol 1997;12:31-36).
Differences in Brain Metabolites Between Patients With Autism and Mental Retardation as Detected by in Vivo Localized Proton Magnetic Resonance Spectroscopy
Authors: Hashimoto Toshiaki , Tayama Masanobu , Miyazaki Masahito , Yoneda Yoshihiro , Yoshimoto Tsutomu , Harada Masafumi , Miyoshi Hirokazu , Tanouchi Miki , Kuroda Yasuhiro
Published: December 2008

We performed volume-selective proton magnetic resonance spectroscopy (1H-MRS) of the brain with a 1.5 T magnet in 28 patients with autism, and compared the results with those from 28 age-matched patients with unclassified mental retardation and 25 age-matched healthy children. Peaks for N-acetylaspartate, choline and creatine, but not lactate, were observed in each group on 1H-MRS. The N-acetylaspartate/choline ratio was lower in patients with mental retardation than in patients with autism and controls (P = .05, respectively). However, there were no differences in the N-acetylaspartate/ choline ratios between patients with autism and controls, and the N-acetylaspartate/creatine and choline/creatine ratios did not differ among the three groups. These results suggest that N-acetylaspartate is decreased in patients with mental retardation and that a disorder or dysfunction of neurons in the brain exists. There also appear to be differences in the brain lesions or dysfunctions found in patients with autism and mental retardation. ( J Child Neurol 1997;12:91-96).
Myotonic Disorders in Childhood: Diagnosis and Treatment
Authors: Moxley Richard T.
Published: December 2008

The recent discoveries that mutations in the genes for the skeletal muscle sodium and chloride channels are responsible, respectively, for paramyotonia/hyperkalemic periodic paralysis and for myotonia congenita of Thomsen have made the classification, diagnosis, and treatment of these disorders much easier. The discovery that myotonic dystrophy results from an unstable [CTG]n trinucleotide expansion has permitted the accurate diagnosis of both symptomatic and asymptomatic individuals, and has led to major advances in preventive treatment, including prenatal and genetic counseling. Diseases that resemble the inherited myotonic disorders are now easier to identify, and as a result of genetic testing a new clinical disorder that is similar to but distinct from myotonic dystrophy has emerged. This new disorder, proximal myotonic myopathy, does not appear to be linked to the genes for the sodium or chloride channels, and has cataracts, myotonia, weakness, and no abnormal expansion of the [CTG]n repeat in the gene for myotonic dystrophy. This review discusses the diagnosis and treatment of these myotonic disorders. ( J Child Neurol 1997;12:116-129).
Topical Review: Congenital Central Nervous System Tumors
Authors: Fort Daniel W. , Rushing Elisabeth J.
Published: December 2008

Congenital central nervous system (CNS) tumors are a rare and diverse group of tumors with variable biological behavior depending on location and histology. This review summarizes the published literature and describes the definition, epidemiology, diagnosis and evaluation, and treatment of congenital central nervous system tumors. ( J Child Neurol 1997;12:157-164).
Relationship Between Left-Handedness and Allergic Symptomatology
Authors: Tirosh Emanuel , Stein Mordechai M. , Harel Judith
Published: December 2008

Handedness and health parameters were assessed in 70 infants. Video recordings were employed for handedness analysis. The infants' growth and health were periodically followed up from birth and information was retrieved from medical records. A significant association between left-handedness and allergy score was found (P< .05). Age (P < .02) and sex (P < .01) appear to be significant covariates. It appears that the possible association between left-handedness and immune-based diseases among adults applies to infants as well. A possible biologic marker for allergy should be incorporated in future research. (J Child Neurol 1997;12:165-168).
Insulin-Dependent Diabetes Mellitus Presenting in Children as Frequent, Medically Unresponsive, Partial Seizures
Authors: Whiting Sharon , Camfield Peter , Arab Donna , Salisbury Sonia
Published: December 2008

Severe partial seizures may be the presenting feature of nonketotic hyperglycemia in older adults, but cases in children are rare. We report three teenagers with well-controlled epilepsy who suddenly developed intractable partial seizures poorly responsive to anticonvulsants. Blood glucose levels were measured only after several days of hospitalization for frequent seizures when mild polyuria and polydipsia were first noted. Glucose levels were high with mild ketosis and acidosis in one patient and no ketosis in two. With institution of insulin, there was prompt cessation of seizures. The patients were diagnosed as having type I insulin-dependent diabetes mellitus and require ongoing insulin treatment. Hyperglycemia should be considered in children with epilepsy who develop intractable seizures. (J Child Neurol 1997;12:178-180).
Self-Esteem, Behavior, and Concerns Surrounding Epilepsy in Siblings of Children With Epilepsy
Authors: Mims Janet
Published: December 2008

Researchers document the emotional impact of epilepsy on the child with seizures. Minimal data are available examining the effects of epilepsy on the siblings of children with seizures. Twenty children whose siblings had either frequent seizures or infrequent seizures were matched by age, gender, and birth order to control subjects with no chronic illness. These three groups were compared. Self-esteem, behavioral and social functioning, and family stress were measured by the Piers-Harris Self-Concept Scale, Child Behavior Checklist, and Family Inventory of Life Events. The siblings of children with epilepsy completed the Sibling Concern About Seizure Scale to define and measure their concerns surrounding epilepsy. There is no statistical difference in self-esteem or social functioning among the three groups. There is a trend toward increased incidence of externalizing behavior in siblings of children with frequent seizures. Data indicate a trend toward siblings of children with frequent seizures having more concerns about epilepsy than siblings of children with infrequent seizures. There is significantly more stress in families of children with frequent seizures compared to families of children with infrequent seizures and families of children with no chronic illness. Although there were no significant differences in the self-esteem, behavior, socialization, and concerns between the siblings in the family when compared to the control group or to each other, there were trends in the results that may be of clinical significance. These issues, along with the level of family stress, should be considered when coordinating and providing care to families of children with intractable epilepsy. (J Child Neurol 1997; 12:187-192).
Schwartz-Jampel Syndrome: Evidence of Central Nervous System Dysfunction
Authors: Singh Balbir , Biary Nabil , Jamil Anis A. , Ali Al-Shahwan Saad
Published: December 2008

We report four patients with Schwartz-Jampel syndrome showing evidence of central conduction impairment documented by somatosensory evoked potentials. Median nerve somatosensory evoked potential showed normal latencies to Erb's point and N13 in all patients. Interpeak latencies between N13 and N19 were prolonged in five nerves, with complete block in three nerves. Posterior tibial nerve somatosensory evoked potentials were performed in three patients. Peripheral latencies were normal in all patients. Interpeak latencies between lumbar and cervical potentials were prolonged in two patients, with conduction delay between cervical and cortical potentials in five of the six nerves tested. Visually evoked potentials, brainstem auditory evoked potentials, electromyography, and nerve conduction velocity studies were normal in all patients. Parents' median nerve and posterior tibial nerve somatosensory evoked potentials were normal. (J Child Neurol 1997;12:214-217).
Neurologic Onset of Behçet's Disease: A Diagnostic Enigma in Childhood
Authors: Koné-Paut Isabelle , Chabrol Brigitte , Riss Jean-Marc , Mancini Josette , Raybaud Charles , Garnier Jean-Marc
Published: December 2008

Neuro-Behçet's disease, which is uncommonly reported in childhood, encompasses a wide variety of clinical features since any part of the neuraxis may be involved. It carries a serious prognosis and represents a leading cause of death or severe disability. Neuro-Behçet's disease may occur in 5%.to 50% of adults with Behçet's disease and is usually subsequent to other systemic manifestations. In this report, we express the possibility of a primary neurologic presentation of Behçet's disease in childhood with pseudotumor cerebri and meningoencephalitis as exclusive initial features. We focus on diagnostic problems when major features of Behçet's disease are missing at the outset. We emphasize the high sensitivity of magnetic resonance imaging to make the diagnosis of cerebral vasculitis or thrombosis with a good reliability to clinical features. (J Child Neurol 1997;12:237—241).
Respiratory Sinus Arrhythmia in Children With Severe Cyanotic Breath-Holding Spells
Authors: DiMario Francis J. , Bauer Lance , Volpe Jana , Baxter David
Published: December 2008

In this study we sought to investigate parasympathetic activity among children with severe cyanotic breath-holding spells by examining respiratory sinus arrhythmia. The study sample was composed of two groups of patients, 16 subjects with cyanotic breath-holding spells (5 male, 11 female; mean age, 37.5 mo) and 17 controls (8 male, 9 female; mean age, 37.7 mo). Each subject's electrocardiogram was recorded in a quiet room and digitized by an 80386 personal computer during five 1-minute periods. R—R intervals within each 1-minute period were converted to heart rate in 120 successive 0.5-second intervals. The resultant heartrate time series was converted to its underlying frequency composition by a fast Fourier transform and averaged across minutes. Respiratory sinus arrhythmia was defined as the variability in the time series over a frequency range (0.096-0.48 Hz) corresponding to a range of respiratory rates from 6 to 30 breaths per minute. Analysis revealed after ANCOVA adjustment for age and gender with subject group and frequency bin as dependent measures, that subjects with cyanotic breath-holding spells had similar variability in their heart rates as did controls (group × frequency bin: F = 0.74, P = 0.71). This study supports the hypothesis that autonomic dysregulation in cyanotic breath-holding spells is not due to a primary disturbance in central parasympathetic control over cardiac rate and rhythm. ( J Child Neurol 1997;12:260-262).
Topical Review: Cerebral Hemodynamics and Metabolism During Infant Cardiac Surgery. Mechanisms of Injury and Strategies for Protection
Authors: du Plessis Adre J.
Published: December 2008

There is an established link between congenital heart disease and acquired brain injury, which relates to the dependence of the nervous system on a consistent and responsive supply of oxygen and glucose. The advances in the field of infant cardiac surgery have presented new and different challenges to the arena of child neurology This review provides an overview of the mechanisms of neurologic injury and cerebral hemodynamics and metabolism during cardiac surgery. This review discusses current and future strategies for the management of children with congenital heart disease. (J Child Neurol 1997;12:285-300).
Electrophysiologic Study of Central Motor Pathways in Ataxia-Telangiectasia
Authors: Alfonsi Enrico , Merlo Ilaria M. , Monafo Virginia , Lanzi Giovanni , Ottolini Alberto , Veggiotti Pierangelo , Moglia Arrigo
Published: December 2008

To date, corticospinal tract functional integrity in ataxia-telangiectasia has not been studied. Thorough evaluation of central motor pathways is also lacking in neuropathologic and clinical studies. Using electromagnetic stimulation, we assessed the integrity of the corticospinal tracts in eight patients with ataxia-telangiectasia. Cortical and peripheral compound motor action potentials were recorded from the abductor pollicis brevis muscle. Recordings of the shortest F-wave latency and of the compound motor action potential distal latency were made from the abductor pollicis brevis muscle after electrical stimulation of the median nerve at the wrist. A significant increase in central motor conduction time was observed in four patients, two of whom had clinical findings compatible with a pyramidal lesion. This study demonstrates involvement of the central motor pathways in ataxia-telangiectasia, which appears to be more frequent late in the course of the disease. (J Child Neurol 1997;12:327-331).
Glucose Metabolism in the Human Cerebellum: An Analysis of Crossed Cerebellar Diaschisis in Children With Unilateral Cerebral Inrjury
Authors: Shamoto Hiroshi , Chugani Harry T.
Published: December 2008

Using high-resolution positron emission tomography (PET), we have recently described the normal pattern of glucose utilization in 11 anatomical regions of the human cerebellum. In the present study, we evaluated the phenomenon of crossed cerebellar diaschisis in 40 patients (mostly children) with unilateral cerebral injury sustained at various periods of brain development. Diaschisis refers to a functional impairment at a remote site following injury to an anatomically connected area of brain and, presumably due to a loss of afferent input to the remote site. Of the 40 patients, 11 had sustained their cerebral injury prenatally, 7 in the perinatal period (± 24 hours of birth), and 22 postnatally (1 day to 15 years). Crossed cerebellar hypometabolism was seen in 22 patients; symmetric cerebellar metabolism was found in 16 subjects. The presence of crossed cerebellar hypometabolism was typically associated (75% of cases) with a postnatal injury, while symmetric cerebellar metabolism was seen only in patients with injury occurring prior to 4 weeks of age (13 of the 16 had prenatal or perinatal insults). A third pattern of cerebellar metabolism, consisting of paradoxical crossed cerebellar hypermetabolism, was seen in two patients; both had sustained their cerebral injury at 4 months of age. These findings suggest the presence of considerable plasticity, which is dependent on age at injury, in the cerebrocerebellar pathway of developing brain. (J Child Neurol 1997; 12:407-414).
Clinical Antecedents of Neurologic and Audiologic Abnormalities in Survivors of Neonatal Extracorporeal Membrane Oxygenation
Authors: Graziani Leonard J. , Baumgart Stephen , Desai Shobhana , Stanley Christian , Gringlas Marcy , Spitzer Alan R.
Published: December 2008

Extracorporeal membrane oxygenation is an effective rescue treatment for severe cardiorespiratory failure in term or near-term neonates, although cerebral palsy, mental retardation, and sensorineural hearing loss are observed in 10 to 20% of survivors. The objective of the present study was to identify potential risk factors that may explain the neurologic and audiologic sequelae noted in 19% of 181 survivors of neonatal extracorporeal membrane oxygenation from our hospital. Our results suggest the following findings in survivors of severe cardiorespiratory failure treated with neonatal extracorporeal membrane oxygenation: (1) hypotension or the need for cardiopulmonary resuscitation before extracorporeal membrane oxygenation significantly increases the risk of spastic cerebral palsy, (2) profound hypocarbia before extracorporeal membrane oxygenation is associated with a significantly increased risk of hearing loss, (3) mental retardation in the absence of spastic cerebral palsy is unexplained except when due to abnormal fetal brain development, and (4) hypoxemia in the absence of hypotension does not increase the risk of neurologic or audiologic sequelae. (J Child Neurol 1997;12:415-422).
Language and Motor Functions Activate Calcified Hemisphere in Patients With Sturge-Weber Syndrome: A Positron Emission Tomography Study
Authors: Müller Ralph-Axel , Chugani Harry T. , Muzik Otto , Rothermel Robert D. , Chakraborty Pulak K.
Published: December 2008

This study examines whether or not in Sturge-Weber syndrome hypoperfused brain areas that are affected by calcification continue to retain some function and participate in language and motor activations. [150]-Water positron emission tomography (PET) was used for brain mapping of these functions in two patients with extensive unilateral calcification and hypoperfusion and in one patient with calcification and hypoperfusion restricted to the left posterior region. Task-related regional cerebral blood flow changes suggest that (1) hypoperfused areas may become activated during language and motor performance, and (2) progressive calcification in Sturge-Weber syndrome is associated with functional reorganization in the language and motor domains. Interhemispheric reorganization appears to be more pronounced for language than for motor functions. (J Child Neurol 1997;12:431-437).
Acute Hemorrhagic Leukoencephalitis: Recovery and Reversal of Magnetic Resonance Imaging Findings in a Child
Authors: Rosman N. Paul , Gottlieb Steven M. , Bernstein Carolyn A.
Published: December 2008

A case of acute hemorrhagic leukoencephalitis (AHLE) in a 6-year-old girl is reported. The presentation was typical for acute hemorrhagic leukoencephalitis, with acute onset of a rapidly progressive neurologic disorder with asymmetric involvement of brain, with polymorphonuclear predominant peripheral leukocytosis and cerebrospinal fluid pleocytosis. Cerebrospinal fluid findings not previously reported included elevation of IgG and the presence of myelin basic protein. Additional previously unreported findings were striking abnormalities on magnetic resonance imaging (MRI) of the brain, in contrast to normal findings on computed tomography (CT). The child was treated with high dose intravenous steroids and made a full recovery, with a parallel disappearance of all of her cerebrospinal fluid abnormalities and almost all of her abnormalities on MRI. Detailed examination of cerebrospinal fluid and MRI of brain should facilitate early diagnosis in other cases of suspected acute hemorrhagic leukoencephalitis and high-dose steroid therapy may lead to improved clinical outcomes. (J Child Neurol 1997;12:448-454).
Alpha-Interferon in the Treatment of Subacute Sclerosing Panencephalitis
Authors: Fayad Michel N. , Yamout Bassem I. , Mroueh Salman
Published: December 2008

Subacute sclerosing panencephalitis is an inexorably progressive disease with no effective therapy. Recent trials of intrathecal and intraventricular alpha-interferon yielded controversial results. We tried intrathecal or intraventricular alpha-interferon in four patients with subacute sclerosing panencephalitis. None of them had evidence of improvement. We reviewed the previously published studies on the use of alpha-interferon in subacute sclerosing panencephalitis. Further international collaborative studies are needed to determine the role of alpha-interferon in the treatment of subacute sclerosing panencephalitis. (J Child Neurol 1997; 12:486-488).
Oxcarbazepine in the Treatment of Early Childhood Epilepsy
Authors: Gaily Eija , Granström Marja-Liisa , Liukkonen Elina
Published: December 2008

Very little data are available on the usefulness of oxcarbazepine in young children with epilepsy. From January 1991 through October 1994, we treated 53 children under age 7 years with oxcarbazepine. The mean follow-up with oxcarbazepine treat ment was 13 months. Etiology was symptomatic in 39, cryptogenic in 12, and idiopathic in 2 children. Forty-three children had previously been intractable to one or more antiepileptic drugs (including carbamazepine in 30 patients) and two had carbamazepine hypersensitivity. The age at onset of oxcarbazepine therapy ranged from 0.6 to 6.9 years (mean, 3.9 yr). The mean maximum oxcarbazepine dose was 50 mg/kg/day (range, 21-86 mg/kg/day). Of the children with localization-related epilepsy, 12 of 44 (27%) became seizure free and an additional 16 of 44 (36%) had an at least 50% reduction of seizures. Five of nine children with generalized epilepsy also had some benefit but none became seizure free. In the 33 children with at least 50% seizure reduction, the mean effective dose and trough serum level of the active metabolite monohydroxycarbazepine were 47 mg/kg/day (range, 21-75 mg/kg/day) and 91 μmol/L (range, 42-130 μmol/L), respectively. Efficacy was transient in 4 children; side effects were observed in 17 children (32%); in 9 (17%) of whom, they led to dose reduction or discontinuation. Oxcarbazepine appears to be an effective and well-tolerated drug for localization-related early childhood epilepsy. Young children need a higher dose per body weight than adults. (J Child Neurol 1997;12:496-498).