bluuebunny/crossref_metadata_2025 huggingface dataset:
Posterior Fossa Malformations and Epilepsy
Authors: Parmeggiani Antonia , Posar Annio , Scaduto Maria Cristina , Chiodo Simona , Santucci Margherita , Giovanardi Rossi Paola
Published: January 2008

The association between posterior fossa malformations and epilepsy is rarely reported in the literature. We describe 54 cases with posterior fossa malformations, according to embryogenesis classification, divided into two groups on the basis of presence or absence of epilepsy. Epilepsy occurred in 22 cases (40.7%) and was not related to the type of posterior fossa malformation or to supratentorial cerebral lesions associated with the malformation. Familial antecedents for epilepsy and/or febrile convulsions influenced the presence of epilepsy in patients with posterior fossa malformations (P < .01). Epilepsy was mainly partial (77.3%); benign partial/generalized epilepsies and febrile convulsions occurred in 27.3% of cases. Seizures disappeared for 2 or more years at the end of follow-up in 36.4% of patients. Good epilepsy prognosis was not related to the age at onset of seizures, familial antecedents for epilepsy and/or febrile convulsions, supratentorial associated lesions, or age of patients at the last observation. Profound mental retardation prevailed in patients with epilepsy (P <.01), as did pathologic electroencephalograms (EEG) (P <.0001), with paroxysmal abnormalities (P <.001) and asymmetry (P < .01). In our 54 cases of posterior fossa malformation, we identified two risk factors for epilepsy: familial antecedents for epilepsy and/or febrile convulsions and the involvement of the cerebellum in the malformation. (J Child Neurol 1999;14:113-117).
Phenytoin-Associated Thrombocytopenia in a Toddler
Authors: Alehan Füsun K. , Russell Edward C. , Pellock John M.
Published: January 2008

Hematologic side effects are rare side effects of treatment with phenytoin. We report a 2-year-old girl who developed reversible thrombocytopenia following treatment with phenytoin. Thrombocytopenia as a side effect of phenytoin treatment has usually been reported in adults and generally occurs 2 to 4 weeks after initiation of therapy. In our case, the thrombocytopenia developed on the 11th day of therapy and resolved 5 days after discontinuation of the phenytoin. (J Child Neurol 1999;14:130-131).
Molecular Studies of Japanese Patients With Group A Xeroderma Pigmentosum Using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism and Nonradioactive Single Strand Conformation Polymorphism Analyses
Authors: Sumitani Susumu , Ishikawa Yukitoshi , Ishikawa Yuka , Minami Ryoji
Published: January 2008

Xeroderma pigmentosum is an autosomal recessive disease characterized by extreme sensitivity of the skin to ultraviolet light, which results in a high incidence of early skin cancer. We report here the molecular analysis of the xeroderma pigmentosum group A complementing genes of five Japanese patients with group A xeroderma pigmentosum and their families, by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis, and by PCR and nonradioactive single strand conformation polymorphism (SSCP) analysis using the Pharmacia PhastSystem. Four of the five patients were found to be homozygous for a known splicing mutation of intron 3. One patient was found to be heterozygous for the splicing mutation of intron 3 and a known nonsense mutation of exon 6. This nonradioactive PCR-SSCP technique was as useful for the molecular diagnosis of patients with group A xeroderma pigmentosum as was PCR-RFLP analysis. ( J Child Neurol 1999;14:168-172).
Acute Disseminated Encephalomyelitis in Childhood: Report of 10 Cases
Authors: Anil Apak R. , Kose Gülsen , Topaloglu Haluk , Anlar Banu , Turanh Güzide , Özdirim Emire
Published: January 2008

We report 10 children with the diagnosis of acute disseminated encephalomyelitis. Diagnosis was based on clinical and radiologic findings, and after acute encephalitis was excluded by negative culture and antibody results. The most common presenting symptom was ataxia, followed by optic neuropathy, cranial nerve palsy, convulsions, motor dysfunction, and loss of consciousness. Brain magnetic resonance imaging showing bilateral symmetrical hyper-intense lesions of the same age in brain stem, subcortical white matter, thalamus, basal ganglia, or cerebellum was the mainstay of the diagnosis. The presence of a preceding event (either an infection or vaccination) was present in 8 of 10 patients. Brain computed tomographic scans were abnormal in 3 of 10, and electroencephalogram was normal in all patients. High-dose corticosteroids were given to six patients, one received low-dose steroids, and the other three had symptomatic follow-up. Those who relapsed were mainly from the symptomatic follow-up group. Only one patient (the youngest) receiving high-dose methylprednisolone relapsed. Therefore, early high-dose steroid treatment seems to be the most effective treatment in acute disseminated encephalomyelitis and can prevent relapses. ( J Child Neurol 1999;14:198-201).
Topical Review: Functional Brain Imaging in Neuropsychiatric Disorders of Childhood
Authors: O'Tuama Lorcan A. , Dickstein Daniel P. , Neeper Ron , Gascon Generoso G.
Published: January 2008

This review article presents a summary of the current state-of-the-art of functional brain imaging, with a primary focus on childhood neuropsychiatric disorders. Coverage is emphasized for developments that appear to be of current or potential future importance for the child neurologist and related pediatric specialist, and also from the perspective of the developmental neuroscientist. Emphasis is placed on the modalities of single photon emission computed tomography (SPECT), positron emission tomography (PET), and both "conventional" and "functional" magnetic resonance imaging, (MRI) including reference to the major new radiopharmaceutical and magnetic resonance-based imaging agents and techniques. The fundamental physicochemical processes underlying such studies are outlined, with citation of sources of more detailed information for the interested reader. A variety of imaging studies are reviewed for selected groups of childhood neuropsychiatric disorders, designed to illustrate the achievements and future promise of these imaging modalities. Areas of concentration are suggested for future imaging research in the field of childhood behavioral disorders, where these methods seem critical to improved understanding of pathogenetic mechansisms, as well as development of more effective treatment strategies. ( J Child Neurol 1999; 14:207-221).
Respiratory Sinus Arrhythmia of Brainstem Lesions
Authors: DiMario Francis J. , Bauer Lance , Baxter David
Published: January 2008

In this pilot study we investigated the hypothesis that intrinsic and extrinsic brainstem lesions situated within the pontomedullary region would effect the integrity of respiratory sinus arrhythmia. The study sample consisted of three patients with anatomic brainstem abnormalities associated with isolated Chiari I malformation, Chiari II malformation with syringobulbia, and achondroplasia with cervicomedullary compression. They were compared to an age- and sex-matched control group of nine patients. Each subject's electrocardiogram was recorded in a quiet room and digitized by a 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 to 0.48 Hz) corresponding to a range of respiratory rates from 6 to 30 breaths per minute. Analysis revealed a significant reduction in respiratory sinus arrhythmia (P < .05), defined as the summated area under the curve, with a mean for controls of 35.42 ± 28.13 SD and for subjects of 17.20 ± 11.50 SD. There was a gradient of abnormality noted, with the mildest deviation in respiratory sinus arrhythmia for the patient with isolated Chiari I malformation and maximum deviation seen in the patient with extrinsic cervicomedullary compression. (J Child Neurol 1999; 14:229-232).
Inherited Neurodegenerative Disease: The Evolution of Our Thinking
Authors: Percy Alan K.
Published: January 2008

The past 3 decades have witnessed impressive progress in our understanding of inherited neurometabolic diseases, promoted by the rapid development and application of molecular genetic strategies. Such progress has required the juxtaposition of clinical evaluations and basic science techniques. The central role of careful and complete assessment of affected children cannot be overemphasized and in no way has been diminished by technologic advances. Indeed, enhanced clinical and laboratory evaluations have led to important conceptual advances. Molecular genetics has elucidated those disorders with known metabolic defects through functional cloning and explained the variability of disease expression based on specific mutational events. Alternatively, positional cloning has identified molecular defects for those disorders with clear phenotypic patterns, but lacking a defined metabolic abnormality. Regarding heterogeneous expression, disorders with clearly different phenotypes can arise from different mutations within the same gene. The multiple variants of β-hexosaminidase deficiency (Tay-Sachs disease) are, arguably, the best examples. Conversely, disorders with similar phenotypes are explainable by quite different mutational events. In addition, the identification of specific diseases exhibiting both biochemical abnormalities and disturbed organogenesis has blurred conventional dogma regarding separation of genetic disorders into strict metabolic and structural categories. Disorders of peroxisomal function and the neuronal ceroid lipofuscinoses are prototypes for the points noted above and raise important issues regarding our approaches to children with these disorders. These issues include a high index of suspicion for an inherited neurometabolic disease and an open mind to possible interrelations with other known and seemingly dissimilar conditions. (J Child Neurol 1999;14:256-262).
Possible Dynamic Neurotransmitter Metabolism Surrounding the Fetus
Authors: Sakuragawa Norio , Elwan Mohamed A. , Fujii Takeshi , Kawashima Koichiro
Published: January 2008

Human amniotic epithelial cells express makers of glial and neural stem cells. These cells also synthesize and release acetylcholine and catecholamines. This study of amniotic fluid demonstrated that acetylcholine and catecholamines can be readily identified in the fluid. Norepinephrine was the major catecholamine present, although dopamine and DOPAC could also be detected. The physiologic role of these amniotic fluid neurotransmitters in fetal-placental interactions and nervous system development is currently under investigation. (J ChiLd NeuroL 1999;14:265-266).
Treatment of Seizures in Subcortical Laminar Heterotopia With Corpus Callosotomy and Lamotrigine
Authors: Vossler David G. , Jung Kyo Lee  , Tae Sung Ko
Published: January 2008

Focal and generalized cortical dysgeneses are sometimes seen on the magnetic resonance images (MRI) of patients with epilepsy. Subcortical laminar heterotopia are bilateral collections of gray matter in the centrum semiovale that resemble a band or "double cortex" on MRI. We studied one male and two female patients with subcortical laminar heterotopia who had moderate to severe developmental delay, early-onset epilepsy, and medically refractory seizures. Atonic, atypical absence, tonic, myoclonic, complex partial, and generalized tonic-clonic seizures were recorded. Interictal and ictal electroencephalographic patterns were generalized and, less commonly, multifocal. Two years after corpus callosotomy, one patient was free of generalized tonic-clonic and atonic seizures, but the other patient who had undergone callosotomy had no significant reduction in seizure frequency. With lamotrigine treatment, the patient who had not had surgery had complete cessation of monthly episodes of status epilepticus and a dramatic reduction of generalized tonic-clonic seizures, and the other patient who received lamotrigine had a 50% reduction of her atonic seizures. In patients with subcortical laminar heterotopia, atonic and generalized tonic-clonic seizures can be substantially reduced or eliminated by corpus cal losotomy or treatment with lamotrigine. (J Child Neurol 1999;14:282-288).
Characteristics and Prognosis of Epilepsy in Children With Cerebral Palsy
Authors: Zafeiriou Dimitrios I. , Kontopoulos Eleftherios E. , Tsikoulas Ioannis
Published: January 2008

The aims of the study were to describe the prevalence and characteristics of epilepsy in a population of patients with cerebral palsy in a university referral center and to determine the rate of relapse caused by discontinuation of antiepileptic drugs after a 3-year seizure-free period. A total of 178 consecutive patients with cerebral palsy and epilepsy were prospectively followed for 9.2 ± 2.4 years after onset of seizures and compared to a control group of 150 epileptic patients without cerebral palsy (median follow-up period, 10.5 years). The overall prevalence of epilepsy was 36.1%. Patients with atonic-diplegic, dystonic, tetraplegic, and hemiplegic cerebral palsy had a higher incidence of epilepsy (87.5%, 87.1%, 56.5%, and 42%, respectively). In all, 134 (75.3%) patients were seizure free for more than 3 years and could discontinue therapy, whereas 44 patients (24.7%) were still on antiepileptic drugs. Eighteen of 134 patients relapsed after a 3-year seizure-free period and subsequent discontinuation of antiepileptic drugs, thus giving a relapse rate of 13.4%. First seizures occurred during the first year of life in 69.7% of the patients with epilepsy and cerebral palsy. Complete control of seizures could be achieved in 65.2% of the patients with cerebral palsy and epilepsy; however, regardless of the prognosis of seizures, epilepsy was a major prognostic factor regarding both the presence of mental retardation and the motor development of children with cerebral palsy. (J Child Neurol 1999;14:289-294).
Attention-Deficit Hyperactivity Disorder and Developmental Right-Hemisphere Syndrome: Congruence and Incongruence of Cognitive and Behavioral Aspects of Attention
Authors: Landau Yael E. , Gross-Tsur Varda , Auerbach Judith G. , Van der Meere Jaap , Shalev Ruth S.
Published: January 2008

We studied clinical aspects of attention in three groups: children with developmental right-hemisphere syndrome and attention-deficit hyperactivity disorder (ADHD), children with ADHD only, and normal controls. The three groups (N = 54) were case-matched for age, sex, IQ, hand dominance, and socioeconomic status. ADHD was diagnosed clinically using the Diagnostic and Statistical Manual of Mental Disorders-III-Revised criteria and the Conners' Abbreviated Teacher Questionnaire. Additional aspects of attention and behavior were measured by the Child Behavior Checklist, a low-cognitive-load continuous performance task, and the visual target cancellation test (paper and pencil). Although the Child Behavior Checklist profile of attentional deficits in the two clinical groups was similar, we found that the developmental right-hemisphere syndrome group was more severely impaired on parameters of attention measured by the continuous performance task and visual target cancellation test than the children with ADHD. We conclude that the profile of attentional deficits in developmental right-hemisphere syndrome is different than that seen in children with ADHD only, possibly reflecting disparate neurologic underpinnings for the two syndromes. (J Child Neurol 1999; 14:299-303).
Alexander's Disease: Unique Presentation
Authors: Gingold Monique K. , Bodensteiner John B. , Schochet Sydney S. , Jaynes Margaret
Published: January 2008

Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathlogic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, but many cases have no identified metabolic abnormality. We report a case that clinically, metabolically, and neuroradiologically appeared to be Leigh syndrome. In addition, our patient exhibited other unusual clinical findings, including ocular motility abnormalities. Neuropathologically, however, the diagnosis of Alexander's disease was confirmed. A review of the literature failed to find other cases of Alexander's disease reported with the metabolic abnormalities and clinical manifestations with which our patient presented (J Child Neurol 1999;14:325-336).
Abdominal Cerebrospinal Fluid Pseudocyst in a Severely Handicapped Patient with Hydrocephalus
Authors: Horikawa Mizuho , Yamada Takashi , Tominaga Kaoru , Yoshida Shintaro
Published: January 2008

We present a case of an abdominal cerebrospinal fluid pseudocyst as a rare complication of a ventriculoperitoneal shunt. The patient is a severely handicapped bedridden spastic quadriplegic with hydrocephalus. He underwent surgical reconstruction of a shunt tube because of shunt disconnection at the age of 12 years. Fever and frequent vomiting developed 2 months after surgery, and abdominal fullness gradually became severe. He was diagnosed as having an abdominal cerebrospinal fluid pseudocyst on abdominal ultrasonography. If a shunt dysfunction is suspected, this type of cyst should also be considered, and abdominal ultrasonography should be performed as one of the screening tests for determining the cause of the shunt dysfunction. (J Child Neurol 1999; 14:320-322).
Periventricular Brain Heterotopias in a Child With Adrenocortical Insufficiency, Achalasia, Alacrima, and Neurologic Abnormalities (Allgrove Syndrome)
Authors: Zeharia Avraham , Shuper Avinoam , Mimouni Marc , Kornreich Liora , Rachmel Avinoam , Lerman-Sagie Tally
Published: January 2008

We describe a previously unreported fmding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder. (J Child Neurol 1999;14:331-324).
Persistent Occipital Electrographic Status Epilepticus
Authors: Sheth Raj D. , Riggs Jack E.
Published: January 2008

A 13-year-old girl of normal intellect had clinically silent occipital electrographic status epilepticus that persisted for more than 3 years. Neurologic examination and cranial magnetic resonance imaging were entirely normal. [18F]Fluorodeoxyglucose positron emission tomography demonstrated a hypermetabolic focus in the right occipital lobe. Electrographic status lasting years can be seen in epilepsia partialis continua. However, the absence of focal clinical seizures, nonprogressive course, and normal magnetic resonance imaging study seen in this patient are not features characteristic of epilepsia partialis continua. (J Child Neurol 1999;14:325-327).
Behavioral and Electrophysiologic Predictors of Treatment Response to Stimulants in Children with Attention Disorders
Authors: Chabot Robert J. , Orgill Anna A. , Crawford Geoff , Harris Michael J. , Serfontein Gordon
Published: January 2008

Behavioral and quantitative electroencephalography (EEG) techniques were used to evaluate treatment response to stimulant therapy in children with attention disorders. A sample of 130 children with attention disorders were evaluated with Conners and Diagnostic and Statistical Manual of Mental Disorders-III rating scales, and with neurometric quantitative EEG before and 6 to 14 months after treatment with stimulants. Significant quantitative EEG differences were found between the normal control population ( N = 31) and the children with attention problems. Quantitative EEG abnormalities involved increased theta or alpha power, greatest in frontal regions, frontal theta/alpha hypercoherence, and posterior interhemispheric power asymmetry. Behavioral improvement after stimulant treatment was seen in 81.5% of the children with attention-deficit hyperactivity disorder and 44.7% of the children with attention-deficit disorder, with the degree of correspondence between behavioral and quantitative EEG changes at 78.5%. Pretreatment clinical and quantitative EEG features could predict treatment response with a sensitivity of 83.1% and a specificity of 88.2%. A combined behavioral and quantitative EEG approach can be useful for following and predicting treatment response to stimulants in children with attention disorders. (J Child Neurol 1999;14:343-351).
Spontaneous Partial Regression of Low-Grade Glioma in Children With Neurofibromatosis-1: A Real Possibility
Authors: Perilongo Giorgio , Moras Paola , Carollo Carla , Battistella Antonio , Clementi Maurizio , Laverda AnnaMaria , Murgia Alessandra
Published: January 2008

At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients. (J Child Neurol 1999;14:352-356).
Carbamazepine Withdrawal in Children With Previous Symptomatic Partial Epilepsy: Effects on Neuropsychologic Function
Authors: Riva Daria , Devoti Monica
Published: January 2008

Neurocognitive performance was evaluated in seven children with symptomatic partial epilepsy prior to, and at least 12 months after, discontinuation of carbamazepine. The patients treated with carbamazepine monotherapy were seizure-free for at least 2 years and without electroencephalographic anomalies for at least 1 year. Results indicated that carbamazepine at therapeutic levels does not affect intellectual, memory, or attentional functions, or more complex frontal functions. Nevertheless, after therapy withdrawal scores on frontal function tests used in this study improved significantly. This suggests that these functions could have been better without carbamazepine therapy. The fact that carbamazepine decreases neuron membrane excitability and could reduce the information circuity, particularly in the frontal areas, is offered as a possible explanation. Further studies on larger samples using the same design are required to validate these results. (J Child Neurol 1999; 14:357-362).
Reflex Sympathetic Dystrophy in Children
Authors: Cimaz Rolando , Matucci-Cerinic Marco , Zulian Francesco , Falcini Fernanda
Published: January 2008

Reflex sympathetic dystrophy is a syndrome characterized by pain in one or more extremities, usually associated with vasomotor changes. Its occurrence in childhood has long been thought to be rare. We describe six cases of pediatric reflex sympathetic dystrophy and suggest that this syndrome could be underdiagnosed in children and adolescents. Psychologic problems frequently play a role in this disorder, which often can be treated conservatively. We also point out that the diagnosis is mainly clinical. An early diagnosis can avoid unnecessary tests and potentially can improve response to treatment, and prognosis. (J Child Neurol 1999;14:363-368).
Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance
Authors: Maria Bernard L. , Quisling Ronald G. , Rosainz Louis C. , Yachnis Anthony T. , Gitten Jill , Dede Duane , Fennell Eileen
Published: January 2008

Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. We previously described key ocular motor signs in Joubert syndrome and the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. In this study, we obtained clinical and developmental data in 61 cases, and radiologic data in 46 of these, to determine the prevalence of the molar tooth sign in a large sample, and to ensure that magnetic resonance images obtained for study were representative of the Joubert syndrome population at large. We studied the morphology of the isthmic segment of the pontomesencephalic junction, the segment of the brain stem derived from the primitive isthmus. Portions of the cerebellum analyzed included the superior cerebellar peduncles, the anterior and posterior lobes of the vermis, and the flocculonodular lobe. In one case, autopsy of the brain was performed. The average age at diagnosis was 33 months. All patients were hypo-tonic and developmentally delayed. The molar tooth sign was present in 85% of cases with 13% of these showing additional malformations. All patients without the molar tooth sign had other mimicking conditions such as neocerebellar dysgenesis, isolated vermian atrophy, cerebellar aplasia, and cystic dilation of the cisterna magna. Autopsy showed aplasia of the cerebellar vermis with dysplasia of the dentate nucleus, elongated locus coeruleus, and marked dysplasia of the caudal medulla. A better understanding of the clinical, radiologic, and pathologic features of Joubert syndrome should help uncover the genetic basis for the syndrome. (J Child Neurol 1999;14:368-376).
Familial Clustering of Autoimmune Disorders and Evaluation of Medical Risk Factors in Autism
Authors: Comi Anne M. , Zimmerman Andrew W. , Frye Virginia H. , Law Paul A. , Peeden Joseph N.
Published: January 2008

Autism is an age-dependent neurologic disorder that is often associated with autoimmune disorders in the patients' relatives. To evaluate the frequency of autoimmune disorders, as well as various prenatal and postnatal events in autism, we surveyed the families of 61 autistic patients and 46 healthy controls using questionnaires. The mean number of autoimmune disorders was greater in families with autism; 46% had two or more members with autoimmune disorders. As the number of family members with autoimmune disorders increased from one to three, the risk of autism was greater, with an odds ratio that increased from 1.9 to 5.5, respectively. In mothers and first-degree relatives of autistic children, there were more autoimmune disorders (16% and 21%) as compared to controls (2% and 4%), with odds ratios of 8.8 and 6.0, respectively. The most common autoimmune disorders in both groups were type 1 diabetes, adult rheumatoid arthritis, hypothyroidism, and systemic lupus erythematosus. Forty-six percent of the autism group reported having relatives with rheumatoid diseases, as compared to 26% of the controls. Prenatal maternal urinary tract, upper respiratory, and vaginal infections; asphyxia; prematurity, and seizures were more common in the autistic group, although the differences were not significant. Thirty-nine percent of the controls, but only 11% of the autistic group, reported allergies. An increased number of autoimmune disorders suggests that in some families with autism, immune dysfunction could interact with various environmental factors to play a role in autism pathogenesis. (J Child Neurol 1999;14:388-394).
Ethosuximide Is Effective in the Treatment of Epileptic Negative Myoclonus in Childhood Partial Epilepsy
Authors: Capovilla Giuseppe , Beccaria Francesca , Veggiotti Pierangelo , Rubboli Guido , Meletti Stefano , Tassinari Carlo Alberto
Published: January 2008

The aim of our study was to evaluate the effectiveness of ethosuximide in the treatment of epileptic negative myoclonus, a motor disorder that can occur in childhood partial epilepsy. We introduced ethosuximide in nine patients with partial epilepsy of varying etiology (idiopathic, cryptogenic, symptomatic) who presented with epileptic negative myoclonus. The drug was added to the patients' preexisting antiepileptic drugs, which were maintained unchanged for the following 6 months. Epileptic negative myoclonus disappeared in all patients 15 to 30 days after ethosuximide was started. Plasma ethosuximide levels ranged from 55 to 89 μg/mL. The clinical response was not influenced by the patients' preexisting treatment or by the etiology of the epilepsy. No side effects were observed, and none of the patients presented a recurrence of epileptic negative myoclonus during follow-up. Furthermore, in five patients we observed the disappearance of partial seizures; in the remaining patients seizures were reduced by more than 75%. Electroencephalograms showed a decrement or disappearance of focal paroxysmal abnormalities. Our results suggest that ethosuximide is effective in the treatment of epileptic negative myoclonus and that it should be considered as a first-choice drug in the treatment of this motor disorder. (J Child Neurol 1999;14:395-400).
Plasma Baclofen Levels in Children Receiving Continuous Intrathecal Baclofen Infusion
Authors: Albright A. Leland , Shultz Barbara L.
Published: January 2008

To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 μg/day. Plasma levels were at or below the limit of quantification (10 ng/mL) in all patients. (J Child Neurol 1999;14:408-409).
Lymphocyte Subsets and Inflammatory Mediators in Patients With Subacute Sclerosing Panencephalitis
Authors: Tekgül Hasan , Tutuncuoglu Sarenur , Kutukçuler Necil , Dizdarer G. , Huseyinov A.
Published: January 2008

A defective cell-mediated immunity and inflammatory cytokines are suggested in the pathogenesis of subacute sclerosing panencephalitis. In this study we analyzed lymphocyte subsets in peripheral blood and concentrations of interleukin-1α (IL-1α), interleukin-2 (IL-2α), tumor necrosis factor-α (TNF-α), and platelet activating factor in plasma and cerebrospinal fluid before and after immunomodulatory therapy (interferon-α plus isoprinosine) in three patients with subacute sclerosing panencephalitis. Increased percentage of CD8+cells (T-suppressor/cytotoxic cell) and CD16+CD56+cells (NK cell) and reduced percentage of CD3+/HLA-DR+ (active T-cell) and CD3+ (total T-cell) cells were found before therapy. After immunomodulatory therapy, CD3+/HLA-DR+ (active T-cell) cells were markedly increased and there was a slight increase in the percentages of all lymphocyte subsets in the patients. The concentrations of platelet activating factor in plasma and cerebrospinal fluid were higher than the mean value in controls. Cerebrospinal fluid and plasma TNF-α and IL-2 levels were nondetectable in two patients who had a stationary course of disease and were markedly elevated in patient 3, who displayed a rapidly progressive course. (J Child Neurol 1999;14:418-421).
The Value of Serial Auditory Brainstem Response in Patients With Subacute Sclerosing Panencephalitis
Authors: Inagaki Masumi , Kaga Makiko , Nihei Kenji , Naitoh Haruko , Takayama Shuji , Sugai Kenji
Published: January 2008

A total of 98 serial auditory brainstem responses from 17 patients (11 boys and 6 girls) with subacute sclerosing panencephalitis were compared with their clinical course and stages. These patients were exposed to measles early in life (at 1.8 ± 1.4 years old) with the average onset of the disease at 8.8 ± 0.7 years of age. The main abnormalities of their auditory brainstem responses were a prolongation of waves I, III, and V, and of the I to V interpeak interval. Wave V thresholds were also elevated. These effects on the auditory brainstem responses started 1 to 2 years after onset of neurologic signs. I to V interpeak latency became prolonged with the progress of clinical stages, especially in Jabbour's clinically advanced stage IV. In two patients with an acute progressive type of subacute sclerosing panencephalitis, very rapid deterioration with a distorted wave pattern of later components was observed. These findings suggest rostrocaudal progression in the central nervous system of both long-term and fulminant cases. (J Child Neurol 1999;14:422-427).
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism
Authors: Pineda Mercedes , Girós Marisa , Roels Frank , Espeel Marc , Ruiz Montserrat , Moser Ann , Moser Hugo W. , Wanders Ronald J. A. , Pavia Carlos , Conill Juan , Aracil Asunción , Amat Luis , Pampols Teresa
Published: January 2008

Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described for some of the complementation groups. We describe the clinical evolution and follow-up over 10 years of a patient who belongs to complementation group 4, although he showed a milder clinical course. It has been found in fibroblasts different peroxisome populations, normal processing and expression of β-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal β-oxidation metabolites have also been detected in serum. Ultrastructural studies in liver showed peroxisomal mosaicism as in fibroblasts. It has been taken into account that peroxisomal mosaicism may lead to variability in peroxisomal diagnostic parameters, making difficult the final diagnosis in these patients.( J Child Neurol 1999;14:434-439).
Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio
Authors: Jackson Anthony H. , Applegarth Derek A. , Toone Jennifer R. , Kure Shigeo , Levy Harvey L.
Published: January 2008

The diagnosis of nonketotic hyperglycinemia is considered to depend upon the presence of increased cerebrospinal fluid glycine and an increased cerebrospinal fluid to plasma glycine ratio. We studied two siblings who have the neurologic and peripheral biochemical features of the atypical variant of nonketotic hyperglycinemia but have normal cerebrospinal fluid glycine and cerebrospinal fluid to plasma glycine ratios. The proband had reduced liver glycine cleavage system activity of 17% and 21% of mean normal values, confirmed in two independent laboratories. Her lymphoblast glycine cleavage system activity was normal. Nonketotic hyperglycinemia can be present in the absence of increased cerebrospinal fluid glycine. Measurement of liver glycine cleavage system activity is indicated when nonketotic hyperglycinemia is suggested by clinical features and peripheral glycine levels but cerebrospinal fluid glycine is normal. (J Child Neurol 1999;14:464-467).
Risk of Excessive Weight Gain in Epileptic Children Treated with Valproate
Authors: Novak Gerald P. , Maytal Joseph , Alshansky Anna , Eviatar Lydia , Sy-Kho Rosemarrie , Siddique Qazi
Published: January 2008

We sought to identify factors associated with excessive weight gain in children treated with valproate, excluding patients fed by gastrostomy or treated with medications known to affect appetite (eg, stimulants). Weight and height were recorded before treatment and at the time of follow-up; a measure of adiposity, body mass index, was computed and expressed in kg/m2, and weight and height for age were converted to Z-score. Putative risk factors included sex, age at start of treatment, monotherapy at start of treatment, duration of follow-up, mental retardation, seizure type (generalized or partial), etiology (idiopathic or cryptogenic versus remote symptomatic), and dose of valproate. Fifty-five children (30 girls, 25 boys), ranging in age at the start of therapy from 1.8 to 16.9 years were followed for 8.6 to 33.8 months. Forty-three patients had primarily generalized seizures, 34 had idiopathic or cryptogenic epilepsy (including 30 with generalized idiopathic epilepsy), and 18 had mental retardation. Valproate was the first antiepileptic drug for 21 patients, and 43 were on monotherapy at the time of follow-up. Height Z-score decreased significantly in girls but was stable in boys. There was a significant increase in body mass index and in weight Z-score. Body mass index was greater than the 90th percentile for age in 14 patients at the start of treatment and in 20 patients at follow-up. Decrease in height Z-score was significantly correlated with female sex and duration of follow-up. Changes in weight Z-score and body mass index were significantly correlated with initial weight Z-score and initial body mass index, respectively, but not with age at start of therapy, duration of follow-up, sex, seizure type, etiology, dose of valproate, or monotherapy. (J Child Neurol 1999; 14:490-495).
Modeling Analysis of Change in Neurologic Abnormalities in Children Born Prematurely: A Novel Approach
Authors: Anderson Anne , Swank Paul , Wildin Susan , Landry Susan , Smith Karen
Published: January 2008

The purpose of this longitudinal study was to evaluate changes in neurologic abnormalities in 212 preterm and 128 full-term children. Preterm infants with severe medical complications were considered at high risk, while those with milder complications were considered at low risk for neurodevelopmental abnormality. The patterns of change in neurologic status for the high- and low-risk preterm and term groups across 6, 12, 24, 40, and 54 months of age were compared using growth modeling analysis. As expected, the term group showed minimal change, while the two preterm groups demonstrated complex, nonlinear patterns of change in neurologic abnormalities. While the results demonstrate improvement over time in both groups of preterm infants, 35% of the children in the high-risk group had neurologic scores in the borderline or abnormal range at 54 months. These findings demonstrate that neurologic deficits are still evident at preschool age in some preterm children and that these deficits are related to the severity of neonatal complications. (J Child Neurol 1999;14:502-508).
Rett Syndrome: 1H Spectroscopic Imaging at 4.1 Tesla
Authors: Pan Jullie W. , Lane Jane B. , Hetherington Hoby , Percy Alan K.
Published: January 2008

Rett syndrome, a neurodevelopmental disorder predominantly affecting girls, is characterized by regression of psychomotor development, communication dysfunction, and hand stereotypies. Brain morphologic studies demonstrate increased neuronal packing density and reduced dendritic arborizations, suggesting an arrest or interruption of normal maturation. Numerous neurotransmitter systems have been implicated. Among these, cerebrospinal fluid glutamate levels are elevated and glutamate receptors, particularly in putamen, are reduced. Therefore, 1H spectroscopy at 4.1 Tesla was used to evaluate glutamate, creatine, and N-acetylaspartate in six girls with Rett syndrome and four normal sibling controls. The ratio of creatine to N-acetylaspartate was significantly elevated in white matter, primarily reflecting reduced N-acetylaspartate levels, and normal in gray matter. The glutamate to N-acetylaspartate ratio was elevated in gray matter and normal in white matter. These findings are consistent with previous neuropathologic and neurochemical findings and indicate the feasibility of imaging these metabolites in vivo. (J Child Neurol 1999;14:524-528).
Folinic Acid-Responsive Neonatal Seizures
Authors: Torres Orlando A. , Miller Van S. , Buist Neil M. R. , Hyland Keith
Published: January 2008

We report three cases of folinic acid-responsive intractable neonatal seizures. All patients were born at term following normal gestation and delivery. In the first infant, seizures began on the 5th day of life and were unresponsive to phenobarbital, pyridoxine, and valproate, but stopped within 24 hours of initiation of folinic acid treatment at the age of 6 months. Her sibling had died at age 6 months with intractable seizures. In the second infant, seizures began in the 2nd hour of life. These were initially controlled with phenobarbital; however, at 3 months of age she developed status epilepticus refractory to anticonvulsants, steroids, and pyridoxine and she required repeated induction of pentobarbital coma. Seizures stopped within 24 hours of starting folinic acid. Seizures and encephalopathy were noted in the third infant on the 2nd day of life. These were controlled with phenobarbital, but at 8 weeks of age seizures recurred and were difficult to control despite the addition of phenytoin. Immediately after folinic acid was initiated the seizures stopped. Breakthrough seizures in all patients have responded to increases in folinic acid; two of the three remain on standard anticonvulsants. All patients have global developmental delay. Cranial magnetic resonance imaging in the second patient shows diffuse atrophy, and in the third patient shows increased signal on T2 images in the white matter of the frontal and parietal lobes. Analysis of cerebrospinal fluid from these patients using high-performance liquid chromatography with electrochemical detection has consistently revealed an as-yet unidentified compound, which can be used as a marker for this condition. We suggest that cerebrospinal fluid be analyzed for the presence of this compound and a trial of folinic acid be considered in neonates with unexplained early onset intractable seizures. (J Child Neurol 1999; 14:529-532).
Incidental Spina Bifida Occulta in Functional Enuresis Observed During Laser Reflexo Therapy
Authors: Kalra Veena , Palaksha H.K.
Published: January 2008

The etiology of persistent functional enuresis in children is ill understood. A wide range of therapeutic modalities have been tried. During investigations preceding a trial of laser reflexo therapy in functional enuretic children aged 7 to 10 years spina bifida occulta was observed in 86.6% of subjects. The lesions were predominantly at the L5-6 level. There were no cutaneous stigmata in the form of lipoma, tufts of hair, or dermal sinus at the back. Neurologic examination was unremarkable and there were no associated skeletal malformations. This strong association of spina bifida occulta with functional enuresis is higher than the reported incidence of 16.5% to 34% in normal children. This strong association hitherto unreported, raises an interesting issue in the search for the etiopathogenesis of functional enuresis. (J Child Neurol 1999;14:541-543).
Niaprazine in the Treatment of Autistic Disorder
Authors: Rossi Paola Giovanardi , Posar Annio , Parmeggiani Antonia
Published: January 2008

Niaprazine is a histamine H1-receptor antagonist with marked sedative properties. It has been employed in subjects with behavior and sleep disorders. No data concerning the use of niaprazine in subjects with autistic disorder are reported in the literature. The authors performed an open study to assess niaprazine efficacy in a sample of 25 subjects with autistic disorder and associated behavior and sleep disorders. Niaprazine was administered at 1 mg/kg/day for 60 days. A positive effect was found in 52% of patients, particularly on hyperkinesia, unstable attention, resistance to change and frustration, mild anxiety signs, heteroaggressiveness, and sleep disorders. Statistical comparison between responders and nonresponders showed no influence on niaprazine effect by age over or under 12 years, presence of neurologic signs, epilepsy, or abnormalities seen on brain imaging. Niaprazine was more efficacious in subjects with a mild or moderate degree of mental retardation. No side effects were observed. Because of its sedative effects and good tolerability, niaprazine can be used as a first-choice drug to improve behavior and sleep disorders in patients with autistic disorder. (J Child Neurol 1999;14:547-550).
Cerebellar and Brainstem Development: An Overview in Relation to Joubert Syndrome
Authors: Yachnis Anthony T. , Rorke Lucy B.
Published: January 2008

An overview of cerebellar and brainstem development is provided as a foundation for suggesting hypotheses about developmental defects in Joubert syndrome. Although neuropathologic studies of Joubert syndrome are rare, and the spectrum of brain pathology is not yet known, consistent findings include agenesis of the cerebellar vermis and hypoplasia or fragmentation of several brainstem nuclei (including dentate nuclei, inferior olives, and basis pontis), nuclei and tracts of cranial nerve V, solitary nuclei and tracts, and nuclei gracilis and cuneatus. Two aspects of cerebellar development might be important in the pathogenesis of Joubert syndrome: First, cerebellar development is regulated by a critical region of the embryo called the "midbrain-hindbrain organizer," and both mesencephalic and metencephalic elements take part in normal cerebellar development. While the metencephalon gives rise to the cerebellar hemispheres, the vermis is derived almost exclusively from the mesencephalon. This suggests that Joubert syndrome could involve an abnormality in formation of the pontomesencephalic junction (rhombomere 1). Second, the histogenesis of cranial nerve nuclei and brainstem structures derived from the embryonic rhombic lip (such as the inferior olives, neurons of the basis pontis, and arcuate nuclei) involves the formation, migration, and reorganization of nuclei and tracts during a critical period of development (6 to 8 weeks' gestation). Because these structures are abnormal in Joubert syndrome, an understanding of factors that regulate the proper formation and migration of cells that give rise to them could provide important clues about the pathogenesis of this disorder. ( J Child Neurol 1999;14:570-573).