bluuebunny/crossref_metadata_2025 huggingface dataset:
Lambert-Eaton Myasthenic Syndrome in Children
Authors: Tsao Chang-Yong , Mendell Jerry R. , Friemer Miriam L. , Kissel John T.
Published: March 2008

Lambert-Eaton myasthenic syndrome is a presynaptic disorder of neuromuscular transmission. It is characterized by muscle weakness, hyporeflexia, and autonomic dysfunction. It is most often associated with small cell carcinomas of the lung. Rare cases have been reported in children. We recently encountered two children with Lambert-Eaton myasthenic syndrome associated with antibodies to P/Q-type calcium channel but without evidence of neoplasms. Both patients showed prolonged and significant improvement following cyclosporin treatment. The diagnosis of Lambert-Eaton myasthenic syndrome should be considered in children with progressive weakness and a negative work-up for the usual causes. High-frequency repetitive nerve stimulation and P/Q-type calcium-channel antibodies may confirm the diagnosis. (J Child Neurol 2002;17:74-76).
Height Distribution in Children With Tourette Syndrome
Authors: Zelnik Nathanel , Newfield Ron S. , Silman-Stolar Zmira , Goikhman Igor
Published: March 2008

Tourette syndrome is characterized by motor and vocal tics, frequently accompanied by attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, coprolalia, aggressive or self-injurious behavior, and learning disabilities. We investigated the height distribution and clinical characteristics of 38 consecutive patients with Tourette syndrome. Seventeen patients with Tourette syndrome (44.7%) were in the lower height quartile versus 25% from a control group of 44 patients with ADHD (P < .05). The mean standard deviation score differential (patient height - [target height]) was -1.12 ± 0.82 for patients in the first quartile (group A) compared with 0.42 ± 0.63 in taller patients with Tourette syndrome (group B) (P <. .001). The mean birthweight of boys in group A versus group B was 3023 ± 351 g and 3363 ± 486 g, respectively (P < .02); birthweight correlated with standard deviation score (r=.43) . Current weight relative to height was normal. Conduct disorder and/or self-injurious behavior were more common in group A patients (P < .05). Relative short stature appears common in Tourette syndrome, and its presence with other features may implicate a neurotransmitter system that interacts with neuroendocrine pathways, controlling height. (J Child Neurol 2002;17:200-204).
A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency
Authors: Bruno Claudio , Biancheri Roberta , Garavaglia Barbara , Biedi Claudia , Rossi Andrea , Lamba Laura Doria , Bado Massimo , Greco Marilena , Zeviani Massimo , Minetti Carlo
Published: March 2008

We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive of Leigh disease. Histochemical analysis of skeletal muscle showed decreased cytochrome-c oxidase activity. Biochemical analysis of respiratory chain enzymes in muscle homogenate and in cultured fibroblasts showed isolated cytochrome-c oxidase deficiency. Western blot analysis in fibroblasts showed the absence of Surf1 protein. Genetic analysis of the SURF1 gene revealed that the patient was compound heterozygous for a previously reported mutation at the splice-junction site of intron 3 (240 + 1G > T), and for a novel 4-bp deletion in exon 6 (531_534delAAAT). Our data further enlarge the spectrum of mutations in SURF1 gene in patients with Leigh disease and cytochrome-c oxidase deficiency, contributing to better characterization of the clinical and neuroradiologic features of this group of patients for genotype-phenotype correlations. (J Child Neurol 2002;17:233-236).
Hydrogen Proton Magnetic Resonance Spectroscopy in Autism: Preliminary Evidence of Elevated Choline/Creatine Ratio
Authors: Sokol Deborah K. , Dunn David W. , Edwards-Brown Mary , Feinberg Judy
Published: March 2008

Hydrogen proton magnetic resonance spectroscopy is only beginning to be studied in autistic individuals. We report an association between hydrogen proton magnetic resonance spectroscopy choline/creatine ratios and severity of autism as measured by the Children's Autistic Rating Scale (Pearson r = .657, P = .04) in 10 autistic children. Hydrogen proton magnetic resonance spectroscopy choline/creatine ratio measures the concentration of cytosolic choline including free choline used in the synthesis of acetylcholine. Elevation in this ratio has been interpreted as a result of membrane degradation such as caused by a tumor or, alternatively, as a result of choline synthesis associated with increased cellular proliferation. Recent neuropathologic evidence has implicated disruption of acetylcholine transmission in the brains of autistic adults. A case-controlled study of hydrogen proton magnetic resonance spectroscopy choline/creatine ratios is warranted. (J Child Neurol 2002;17:245-249).
Menkes Gene Study in the Chinese Population
Authors: Mak Betty Suk-Chun , Chi Ching-Shiang , Tsai Chi-Ren
Published: March 2008

We sought to determine the nature of the molecular defect causing Menkes' syndrome in the Chinese population. The DNA of four patients with typical Menkes manifestation was sequenced. Two pathologic genetic defects were identified; one of them is a nonsense mutation, whereas the other is a frameshift mutation. Both of these mutations are de novo. (J Child Neurol 2002;17:250-252).
Prevalence Estimation of Williams Syndrome
Authors: Strømme Petter , Bjømstad Per G. , Ramstad Kjersti
Published: March 2008

There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on January 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation, whereas the second study comprised 57 cases with Williams syndrome born between 1970 and 1992, who were referred for evaluation from all Norwegian counties. The epidemiologic study revealed three children with Williams syndrome, whereas one additional case complying with our demographic criteria was identified in the national survey, thus giving a prevalence of 1 in 7500. In all cases, a typical chromosome 7q11.23 deletion was detected. We also conclude that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology. (J Child Neurol 2002;17:269-271).
Long-Term Tolerability and Efficacy of Lamotrigine in Pediatric Patients With Epilepsy
Authors: Duchowny Michael , Gilman Jamie , Messenheimer John , Womble Gilda , Risner Marcus , Lamictal Pediatric Study Group
Published: March 2008

Accumulating data suggest that the antiepilepsy drug lamotrigine, which has been available for adult use for more than a decade, also confers broad-spectrum, well-tolerated control of epilepsy in children. The current study—the open-label continuation phase of several short-term clinical trials—was conducted to assess the long-term tolerability and efficacy of lamotrigine as open-label adjunctive therapy or monotherapy in pediatric patients for a variety of seizure types and syndromes including partial seizures, absence seizures, and Lennox-Gastaut syndrome. Clinic visits occurred every 24 weeks throughout the treatment period. A total of 252 patients under 16 years of age were enrolled in the study. The numbers of patients exposed to at least 48 weeks, 96 weeks, and 144 weeks of treatment with lamotrigine were 185 (73.4%), 119 (47.2%), and 60 (23.8%), respectively, for an average duration of exposure of 96.7 weeks. The most common adverse events considered by the investigator to be drug related were dizziness (9.1%), somnolence (7.9%), nausea (6.3%), vomiting (5.2%), and headache (5.2%). The most common serious adverse events (regardless of suspected cause) included pneumonia (3.0%) and infection (1.9%). Investigators judged that the overall clinical status of three-fourths of the patients had improved at treatment weeks 48 and 96 relative to prelamotrigine clinical status. Lamotrigine administered as monotherapy or adjunctive therapy for an average of 2 years (96.7 weeks) was well tolerated and effective in pediatric patients with partial or generalized epilepsy. These results complement and extend the large body of data demonstrating the tolerability and efficacy of lamotrigine with short- and long-term use in adults. (J Child Neurol 2002;17:278-285).
Giant Congenital Melanocytic Nevi in a Patient With Brain Structural Malformations and Multiple Lipomatosis
Authors: Wieselthaler Nicky A. , Van Toorn Ronald , Wilmshurst Jo M.
Published: March 2008

We present a 9-year-old boy diagnosed from birth with giant congenital melanocytic nevi. He had central structural brain malformations of hemimegalencephaly of the right frontotemporal lobe and left occipitoparietal lobe, choroid plexus hypertrophy, and a Dandy-Walker variant. In addition, he developed multiple lipomatoses. These lesions were cutaneous except for two at the cerebellopontine angles, which were present from birth. This patient represents a rarely documented example of two histopathologies resulting in serious complications. The diagnostic issues and histopathologic process are discussed. (J Child Neurol 2002;17: 289-291).
Periventricular Nodular Heterotopia: Report of a Pediatric Series
Authors: Spalice Alberto , Taddeucci Grazia , Perla Francesco Massimo , Pascali Maria Paola , Iannetti Paola
Published: March 2008

Periventricular nodular heterotopia is a malformation that occurs in both males and females and is associated with a variety of clinical and neuroradiologic signs. A gene called filamin-1 (FLN-1) has recently been identified. We review the clinical and imaging fmdings from a series of pediatric patients with periventricular nodular heterotopia. Five patients (three males and two females; age range = 4-18 years) were investigated. In our series, periventricular nodular heterotopia can be the common denominator in different conditions. Periventricular nodular heterotopia can occur alone or be associated with cortical malformations. Epilepsy was present in three of the five patients and was resistant to drugs in one female. Mental retardation was present in three of the five patients. Two male patients had normal intelligence, with no cortical anomalies; patient 3 had unilateral periventricular nodular heterotopia. The associated malformations were more severe in the female patients and slight only in patient 1. The two females showed anomalies rarely reported in association with bilateral periventricular nodular heterotopia. We believe that other genes can be involved in children with atypical neuroradiologic periventricular nodular heterotopia. No mutations were detected in 6 of the 48 exons of the FLN-1 gene, although this does not allow any definitive conclusions to be reached. We conclude that our series of patients with periventricular nodular heterotopia clearly highlights the complexity of the clinical, neurologic, and neuroradiologic characteristics associated with this malformation. (J Child Neurol 2002;17:300-304).
Complex Central Cortex in Pediatric Patients With Malformations of Cortical Development
Authors: Akai Takuya , Otsubo Hiroshi , Pang Elizabeth W. , Rutka James T. , Chitoku Shiro , Weiss Shelly K. , Snead O. Carter
Published: March 2008

We investigated whether malformations of cortical development yield a complex central cortex by studying nine children with malformations of cortical development and seven without malformations who underwent epilepsy surgery following extraoperative subdural somatosensory evoked potential and electrical stimulation to identify the sensorimotor cortex. We analyzed superficial structures of the central cortex, latency, amplitude, and location of N20 and P25. Sensorimotor responses in malformations of cortical development extended across the central sulcus in 1 to 4 of 3 to 12 electrodes (mean 32%) compared with 1 to 6 of 4 to 15 electrodes (mean 12%) in cases without malformations with a statistical significance (P < .05). N20 amplitudes were lower in epileptic than nonepileptic cortices (three with and three without malformations of cortical development) (P < .05). The central vein coursed partially along the central sulcus in eight cases of malformations of cortical development and five cases without malformations. We conclude that the sensorimotor cortex in malformations of cortical development is more complex than in cases without malformations, reduced N20 amplitude is indicative of epileptic sensorimotor cortex, and superficial veins do not indicate the sensory and motor cortical boundary. (J Child Neurol 2002;17:347-352).
Cerebellar Vermis Hypoplasia in a Patient With Bardet-Biedl Syndrome
Authors: Baskin Esra , Sinan Mahir Kayran  , Oto Sibel , Alehan Ftisun , Agildere A. Muhtesem , Saatçi Ümit
Published: March 2008

Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna. ( J Child Neurol 2002;17:385-387).
Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis
Authors: Haliloglu Goknur , Anlar Banu , Aysun Sabiha , Topcu Meral , Topaloglu Haluk , Turanli Guzide , Yalnizoglu Dilek
Published: March 2008

Multiple sclerosis and myasthenia gravis are the most common autoimmune diseases affecting the nervous system, with generally a female predominance in adults. To determine the gender distribution in childhood, we reviewed 28 patients with definite multiple sclerosis and 44 patients with myasthenia gravis with onset before 16 years. In myasthenia gravis, a significant female preponderance was observed only with onset after 10 years of age; earlier disease showed no gender difference. Multiple sclerosis tended to affect boys more than girls before age 10 years and both sexes equally after this age. Gender prevalence in childhood multiple sclerosis and myasthenia gravis is different than in adult series; these results may provide insight into pathogenesis or clinical approach. ( J Child Neurol 2002;17:390-392).
Neonatal Mydriasis: Intravenous Lidocaine Adverse Reaction
Authors: Berger Itai , Steinberg Avraham , Schlesinger Yechtiel , Seelenfreund Mordechai , Schimmel Michael S.
Published: March 2008

Lidocaine (a sodium channel blocker) serves as an antiepilepsy drug in neonates. We present a neonate with a seizure disorder who acutely developed pupillary mydriasis secondary to lidocaine overdose. We suggest adding this side effect to the list of untoward effects of lidocaine and to the differential diagnosis of fixed dilated pupils in neonates treated with lidocaine. ( J Child Neurol 2002; 17:400-401).
Progressive Sliding Hiatal Hernia as a Complication of Menkes' Syndrome
Authors: Shiihara Takashi , Kato Mitsuhiro , Honma Tomomi , Kimura Toshiyuki , Matsunaga Akira , Kodama Hiroko , Hayasaka Kiyoshi
Published: March 2008

We report a 19-month-old boy with Menkes' syndrome that was complicated by a progressive sliding hiatal hernia. He presented with convulsions, developmental delay, elongation and tortuosity of major cerebral arteries, and diverticulae of the bladder at 4 months of age. Based on the diagnosis of Menkes' syndrome, treatment with intravenous or subcutaneous copper-histidine administration was initiated at 6 months of age. At 13 months of age, he vomited frequently owing to sliding hiatal hernia, which progressed rapidly and required surgical treatment. Connective tissue abnormalities are characteristic complications of Menkes' syndrome. Sliding hiatal hernia is probably one of the connective tissue manifestations and should be carefully evaluated in patients with Menkes' syndrome demonstrating recurrent gastrointestinal and/or respiratory symptoms. ( J Child Neurol 2002;17:401-402).
Burst Suppression Electroencephalogram Pattern in the Newborn: Predicting the Outcome
Authors: Douglass Laurie M. , Wu Joyce Y. , Rosman N. Paul , Stafstrom Carl E.
Published: March 2008

A neonatal burst suppression electroencephalogram (EEG) is usually associated with an ominous prognosis. It is controversial whether a reactive burst suppression pattern (ie, a burst suppression pattern that can be interrupted by stimulation) is predictive of a better outcome. We retrospectively studied 22 full-term newborns with burst suppression EEGs to examine their functional outcome. Follow-up (3 to 9 years) was by record review and telephone interview. On the basis of initial EEG pattern and prognosis, three groups were identified post hoc: group 1 (n = 16) had initially nonreactive burst suppression EEGs that remained abnormal; 11 patients died, 4 remained profoundly impaired (nonambulatory, nonverbal), and 1 was moderately impaired (unassisted ambulation, limited speech). Group 2 (n = 3) had initially nonreactive burst suppression EEGs that later improved substantially (within a mean of 7 weeks). At follow-up (3 to 8½ years), each child was walking (one with braces), talking, and enrolled in special education. Group 3 (n = 3) had reactive burst suppression EEGs initially. At follow-up (ages 3½ to 9 years), each child was walking unassisted and speaking in sentences. Two children in group 3 were of preschool age, and the third was in a special needs program. Although most newborns with nonreactive burst suppression EEGs have a dire neurologic outcome, of those in whom the EEG improves early, the prognosis may be slightly more favorable. Infants with reactive burst suppression EEGs during the acute phase of illness appear to have the best prognosis. (J Child Neurol 2002;17:403-408).
Evaluation of the Enzyme-Linked Immunoelectrotransfer Blot Assay for Diagnosis of Neurocysticercosis in Children
Authors: Aguilar-Rebolledo Francisco , Meza-Lucas Antonio , Torres Javier , Cedillo-Rivera Roberto , Enciso Antonio , Garcia Roberto Carlos , Munoz Onofre , Correa Dolores
Published: March 2008

Neurocysticercosis is a common problem in developing countries, and it causes neurologic disorders in children. Immunodiagnosis with Taenia solium glycoproteins as an antigen has been validated in adults but not in children. The aim of this work was to evaluate a Taenia solium glycoproteins-based enzyme-linked immunoelectrotransfer blot assay in children with neurocysticercosis. Twenty-five confirmed cases of neurocysticercosis and 50 healthy children from the same community were included. The test had a sensitivity of 72% and a specificity of 96%. Sensitivity was higher (100%) in cases with multiple cysts and in multiple sites. Sensitivity was higher when cysts were in parenchyma (86%) than when they were in the subarachnoid space. The most frequently recognized proteins were 24, 39 to 42, and 50 kDa. Diagnosis was more efficient in serum than in cerebrospinal fluid. Western blot is a reliable method for serologic diagnosis of neurocysticercosis in children. Multiple cysts and infections in multiple sites elicited a stronger immune response. (J Child Neurol 2002;17:416-420).
Infantile Leukoencephalopathy Owing to Mitochondrial Enzyme Dysfunction
Authors: Kang Peter B. , Hunter Jill V. , Melvin Joseph J. , Selak Mary A. , Faerber Eric N. , Kaye Edward M.
Published: March 2008

Mitochondrial disease is classically associated with deep gray-matter lesions. When white matter is involved, the lesions are typically subcortical and overshadowed by more significant disease in the gray matter. We report six infants in five families who developed neurodegenerative diseases characterized primarily by abnormalities in deep white-matter structures such as the periventricular region, internal capsule, and corpus callosum. Five patients had impairments of mitochondrial enzymes, including a pre-electron transport chain defect and defects in respiratory chain complexes I, III, and IV (cytochrome-c oxidase). One patient, the sibling of one of the others, was diagnosed clinically with complex III deficiency. These six patients, along with others in the literature, appear to represent a distinct syndrome of mitochondrial infantile leukoencephalopathy. Our observations suggest that infants with leukoencephalopathies, especially leukodystrophies, who do not have one of the more common causes of white-matter disease should be evaluated for mitochondrial dysfunction. (J Child Neurol 2002;17:421-428).
Myoclonic Seizures as a Main Manifestation of Epstein-Barr Virus Infection
Authors: Bassan Haim , Bloch Aviva Mimouni , Mesterman Ronit , Assia Ayala , Harel Shaul , Fattal-Valevski Aviva
Published: March 2008

A 15-year-old girl with clinical and serologic evidence of active Epstein-Barr virus infection presented with a new onset of myoclonic jerks, confirmed on electroencephalogram (EEG) by generalized polyspike-and-wave epileptiform activity. Family history for juvenile myoclonic epilepsy was negative, and brain magnetic resonance imaging was normal. The myoclonic jerks resolved spontaneously after 5 days, with gradual normalization of the EEG during the ensuing month and since then no resumption over the last 2 years. Previous reports have already linked Epstein-Barr virus infection to opsoclonus-myoclonus syndrome and hypsarrhythmia, but to the best of our knowledge, this is the first presentation of epileptic myoclonic jerks associated with acute Epstein-Barr virus infection. We suggest that acute myoclonic seizures with a transiently abnormal EEG and benign course can be associated with acute Epstein-Barr virus infection. (J Child Neurol 2002;17:446-447).
Congenital Bilateral Perisylvian Syndrome Associated With Congenital Constriction Band Syndrome
Authors: Yamanouchi Hideo , Ota Takako , Imataka George , Hagiwara Yuri , Nakagawa Eiji , Eguchi Mitsuoki
Published: March 2008

We report a 7-year-old boy with congenital bilateral perisylvian syndrome and congenital constriction band syndrome. The former is a congenital neurologic syndrome characterized by pseudobulbar palsy, mental retardation, epilepsy, and bilateral perisylvian polymicrogyria. The latter is a malformative disorder with digital ring constrictions and amputations, probably caused by early amnion rupture resulting in entanglement of fetal parts by amniotic strands. We believe that the combination of these two malformative disorders was not coincidental; instead, fetal circulatory disturbance related to chronic abruptio placentae could account for this combination. (J Child Neurol 2002;17:448-450).
Midline Developmental Anomalies in Down Syndrome
Authors: Kieslich Matthias , Fuchs Sigrun , Vlaho Stefan , Maisch Ulrike , Boehles H.
Published: March 2008

Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases. Cardial sonography revealed a ventricular septal defect and mild pulmonary stenosis. Cranial magnetic resonance imaging demonstrated a general but infratentorial stressed brain atrophy with widening of the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular hypotonia and developed severe motor and mental retardation, accompanied by microsomia and generalized epileptic seizures. At age 8 months, he died of sudden nocturnal respiratory and cardiac failure. The peculiarity of this case is the combination of Down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative encephalopathy. There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. The expression pattern of the human sim corresponding gene suggests that it might be involved in the pathogenesis of midline defects in Down syndrome. (J Child Neurol 2002;17: 460-462).
Infantile Alexander's Disease: Serial Neuroradiologic Findings
Authors: Ni Qing , Johns Gretchen S. , Manepalli Anantha , Martin David S. , Geller Thomas J.
Published: March 2008

Serial neuroimaging studies in Alexander's disease were obtained on an African-American girl who died at 4z\x years of age. She presented with macrocephaly, psychomotor retardation, spasticity, a seizure disorder, and hydrocephalus. A thorough metabolic evaluation of defined leukodystrophies, including Krabbe's disease, adrenoleukodystrophy, metachromatic leukodystrophy, Canavan's disease, and Leigh disease, was negative. A diagnosis of Alexander's disease was made based on the clinical features and ruling out all other possible causes. It was confirmed by pathologic findings of numerous subpial, subependymal, and perivascular Rosenthal fibers throughout the entire cerebrum. Interestingly, autopsy also identified the stenotic sylvian aqueduct owing to Rosenthal fiber accumulation, explaining the origin of hydrocephalus. The evolution of magnetic resonance imaging findings appears to be unique in this disease. (J Child Neurol 2002;17:463-466).
Motor Imagery Training Ameliorates Motor Clumsiness in Children
Authors: Wilson Peter H. , Thomas Patrick R. , Maruff Paul
Published: March 2008

Children with impaired motor coordination (or developmental coordination disorder) have difficulty representing internally the visuospatial coordinates of intended movements. We have proposed that this deficit reflects impairment in the generation of forward models of the efference copy of intended movements―the efference-copy-deficit hypothesis. In this study, we challenged this hypothesis by examining the efficacy of an imagery intervention designed specifically to train the forward modeling of purposive actions. A pre-post design was adopted. Fifty-four children referred with motor coordination problems were assigned randomly to one of three groups: imagery training, traditional perceptual-motor training, and wait-list control. The imagery protocol―delivered by an interactive CD―ROM―was shown to be equally effective to perceptual-motor training in facilitating the development of motor skill in the referred children. These results support the efference-copy-deficit hypothesis in explaining the cause of motor clumsiness in most children. Directions for future intervention studies and remediation in the field of developmental clumsiness are discussed. (J Child Neurol 2002;17:491-498).
Hemispheric Lateralization of Language in Epileptic Right-Handed Children With Unihemispheric Discharge
Authors: Manaut Enrique , Gómez Carlos M. , Vaquero Encarna , Rodríguez Elena
Published: March 2008

The epileptic discharge of one hemisphere interferes with brain function. The present study assesses the linguistic disabilities of epileptic patients owing to discharge in one hemisphere. Subjects were classified by age and gender. A significant deterioration of linguistic abilities appeared in adult subjects discharging in the left hemisphere. In children, however, a more symmetric hemispheric pattern of epileptic discharge interference appears with age up to 14 years. Unihemispheric epileptic discharges could also provide information about the degree of lateralization that a given function presents in different developmental stages. This lateralization appears clearly established from the age of 14 to 21 years until late adulthood. These results imply that hemispheric specialization of language is not completed until adolescence. This absence of hemispheric specialization for language in childhood was statistically more significant in boys than in girls, suggesting that the maturation of cortical areas related to language occurs earlier in girls than in boys. Finally, the familial history of left-handedness is a factor delaying the age of left lateralization of language in right-handed children. (J Child Neurol 2002;17:505-509).
Auditory Brainstem Evoked Potentials in Early-Treated Congenital Hypothyroidism
Authors: Chou Yi-Hung , Wang Pen-Jung
Published: March 2008

To evaluate the effect of early treatment of congenital hypothyroidism on central nervous system development, auditory brainstem evoked potentials were determined in 32 patients with hyperthyrotropinemia diagnosed during neonatal screening. The patients included 27 with congenital hypothyroidism and 5 with transient hypothyroidism. Abnormal auditory brainstem evoked potential tracings were found in 8 patients (congenital hypothyroidism in 7 and transient hypothyroidism in 1). Four of these patients had increased peripheral conduction time (wave I prolongation), and the other 4 had increased central conduction time (wave III or V prolongation). The patients with abnormal auditory brainstem evoked potentials did not show increased initial manifestations, yet 6 of them had lower initial thyroxine levels. Specific auditory brainstem evoked potential abnormalities were found in 25% of early-treated patients with congenital hypothyroidism. The possible causal relationship between deviant auditory brainstem evoked potential patterns and later neurodevelopment demands further clarification. This study suggests the usefulness of auditory brainstem evoked potential assessment to provide information about electrophysiologic deviation of the auditory pathway in patients with early-treated congenital hypothyroidism. (J Child Neurol 2002;17:510-514).
Positron Emission Tomography in Three Children With Pleomorphic Xanthoastrocytoma
Authors: Etzl Michael M. , Kaplan Allen M. , Moss S. David , Spataro Joseph , Bonstelle Charles T. , Lawson Michael A. , Bandy Daniel J.
Published: March 2008

The pleomorphic xanthoastrocytoma is generally considered a low-grade neoplasm with favorable prognosis. These tumors, however, can demonstrate primary anaplastic features, undergo malignant transformation, disseminate, or progress with poor outcome. Currently, there are no histologic or clinical features that reliably predict recurrent tumor or tumor progression. We report three children with confirmed pleomorphic xanthoastrocytoma who were studied with positron emission tomography (PET) using [18F]fluorodeoxyglucose (FDG) coregistered with magnetic resonance imaging. One patient had decreased FDG metabolism and, despite a gross total resection and benign pathology, had early local recurrence. Subsequent to a second surgical resection and radiation therapy, he has remained stable for 8 years. One patient with significant FDG uptake had gross total resection of an anaplastic pleomorphic xanthoastrocytoma. Follow-up FDG studies showed no abnormal metabolic activity, and he has been stable without adjuvant treatment for 5 years. The last patient had intermediate FDG uptake and a moderate-grade pleomorphic xanthoastrocytoma by histopathology. She showed early tumor progression with spinal metastases. Following a near-total resection of the recurrent intracranial lesion and neuroaxis radiation, she has been stable for 4 years. Although there are still no reliable prognostic indicators for pleomorphic xanthoastrocytoma, PET with FDG correlates with histopathology, and increased uptake may be a marker for more malignant or aggressive tumors. The extent of surgical resection in regard to prognosis in our limited study is unclear but appears helpful in the anaplastic pleomorphic xanthoastrocytoma case. Adjuvant radiation therapy also may benefit certain patients. Further PET studies are warranted in this group of tumors. (J Child Neurol 2002;17:522-527).
Dermatomyositis in Two Siblings and a Brief Review of Familial Dermatomyositis
Authors: Tsao Chang-Yong , Mendell Jerry R. , Kissel John T.
Published: March 2008

Juvenile dermatomyositis is an uncommon autoimmune disease with classic heliotrope discoloration of the eyelids, erythematous skin rash of joints, and proximal muscle weakness. It is most frequently sporadic and only rarely familial. We present juvenile dermatomyositis in a 5-year-old brother and a 3½-year-old sister; both are very responsive to corticosteroids. Familial dermatomyositis can occur in different family members, and even dermatomyositis and polymyositis can coexist in the same family. (J Child Neurol 2002;17:540-542).
Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria
Authors: Friedman J.M.
Published: March 2008

Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-Iait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered. (J Child Neurol 2002;17:548-554).
Review Article : NF1 Mutations and Molecular Testing
Authors: Thomson Susanne A. M. , Fishbein Lauren , Wallace Margaret R.
Published: March 2008

Neurofibromatosis 1 is a progressive autosomal dominant condition caused by mutations in the NFI gene on chromosome 17. The condition shows clinical variable expressivity, with varying features even between family members who share the same mutation. Furthermore, it is impossible to precisely predict the severity and course of the condition, a source of frustration for families and physicians. Neurofibromatosis 1 is also heterogeneous at the mutation level, with more than 300 independent mutations having been reported in this gene. The mutation data have accumulated slowly owing to the variability of the mutation types and the size and complexity of the gene. This is also reflected in the lack of a simple, inexpensive, highly accurate DNA-based test for neurofibromatosis 1 at present. This article reviews current NF1 mutation spectrum and testing, discussing and illustrating mutation mechanisms and pathogenetic effects, as well as factors affecting DNA testing and interpretation/diagnosis. (J Child Neurol 2002;17:555-561).
Review Article : Neurofibromas in Children With Neurofibromatosis 1
Authors: Rosser Tena , Packer Roger J.
Published: March 2008

Neurofibromatosis 1 is a common autosomal dominant disease reported in approximately 1 in 3000 individuals. Although some features of neurofibromatosis 1, such as café-au-Iait spots and Lisch nodules, are clinically silent, neurofibromas cause a significant degree of morbidity, mortality, and cosmetic disfigurement. Childhood through early adulthood is a vulnerable period for the growth of these lesions. Neurofibromas are a heterogeneous group of benign tumors that grow from intraneural and extraneural tissues. These tumors take on different morphology, grow at variable rates, and occur in multiple locations. Symptoms arise as neurofibromas enlarge, compressing and distorting local structures. The unpredictable nature of neurofibromas has a serious impact on the quality of life of patients with neurofibromatosis 1, and their management is challenging for physicians. Surgical removal remains the mainstay of treatment. However, advances in the understanding of the genetics and pathogenesis of neurofibromatosis 1 have led to the development of promising new biologically directed therapies. The purpose of this review is to summarize the defining characteristics, incidence, clinical course, management options, and outcome of neurofibromas in children with neurofibromatosis 1. (J Child Neurol 2002;17:585-591).
Review Article : Molecular and Cellular Mechanisms Underlying the Cognitive Deficits Associated With Neurofibromatosis 1
Authors: Costa Rui M. , Silva Alcino J.
Published: March 2008

Neurofibromatosis 1 is one of the most common single-gene disorders affecting neurologic function in humans. Mutations in the NF1 gene cause abnormalities in cell growth and differentiation and lead to a variety of learning disabilities. Neurofibromin has several biochemical functions, such as Ras-guanosine triphosphatase activity, adenylate cyclase modulation, and microtubule binding, all of which could be critical for brain function. We review how studies in mouse models are helping to unravel the molecular and cellular mechanisms underlying cognitive deficits in neurofibromatosis 1. These studies suggest that the learning disabilities associated with neurofibromatosis 1 are caused by excessive Ras activity that leads to increased γ-aminobutyric acid (GABAA) inhibition and to decreased long-term potentiation. These findings have brought us closer than ever to the development of possible treatments for the learning disabilities associated with neurofibromatosis 1. (J Child Neurol 2002;17:622-626).
Bilateral Demyelinating Tumefactive Lesions in Three Children With Hemiparesis
Authors: Yapici Zuhal , Eraksoy Mefkure
Published: March 2008

We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a history of upper respiratory tract infection, whereas another had undergone urinary tract surgery, and the other reported no history of any infection or stress-related factor. In all of the children, MRI showed multiple superficial and deep white-matter hyperintensity in T2-weighted and proton density images with perifocal edema in the acute phase. During the symptomatic period, all of the patients underwent corticosteroid treatment. Whereas two of the patients demonstrated signs of recovery during the first week of treatment, the other patient demonstrated almost a full recovery with minimal neurologic sequela. Follow-up MRI demonstrated not only a remarkable decrease in the size and number of the lesions, with complete resolution for many of them, it also demonstrated a loss of contrast enhancement. None of these three patients, who had been followed up clinically and through MRI for 5 years, have shown either a clinical relapse or new lesions. The clinical pictures and MRI of the children were different in some aspects from acute multiple sclerosis and acute disseminated encephalomyelitis. Regarding both the clinical follow-up and treatment strategy, it is essential and interesting to state the fact that tumefactive lesions involving both hemispheres are likely to appear during the monitoring of the monophasic courses among inflammatory demyelinating diseases of childhood such as acute disseminated encephalomyelitis. (J Child Neurol 2002;17:655-660).
Neuropsychologic Effects of Frontal Lobe Epilepsy in Children
Authors: Riva Daria , Saletti Veronica , Nichelli Francesca , Bulgheroni Sara
Published: March 2008

Most published neuropsychologic studies on frontal lobe epilepsy have been performed on mixed groups of adults and adolescents with epilepsies of varying etiology. The cognitive profile of frontal lobe epilepsy in children has not been defined. The purpose of this study was to assess neuropsychologic performance in children with frontal lobe epilepsy. Intelligence and executive functions were examined in eight children (age 67/12 years to 1311/12 years) with frontal lobe epilepsy. Performance was related to the focus side, seizure frequency, and age of epilepsy onset. Frontal lobe epilepsy was associated with a range of frontal dysfunctions, but IQ was generally spared. Left focus was associated with deficits in categorization, verbal long-term memory, and detailed visuospatial analysis. Frequent seizures correlated with attention difficulties and inability to inhibit impulsive responses. Children whose epilepsy appeared before age 6 years had reduced ability to change behavioral strategies. Frontal epileptic activity alone can cause selective frontal deficits, the severity and nature of which are related to side, seizure frequency, and age of epilepsy onset. These findings require confirmation on larger series of selected children. (J Child Neurol 2002;17:661-667).
Lipid Peroxidation and Antioxidative Enzyme Activities in Childhood Epilepsy
Authors: Turkdogan Dilsad , Toplan Selmin , Karakoc Yunus
Published: March 2008

This study aimed to investigate the relationship among lipid peroxidation, subsequent activation of scavenger enzymes (superoxide dismutase and glutathione peroxidase), and the presence of structural abnormality in 52 epileptic children receiving monotherapy (medically responsive) or polytherapy (medically intractable). Plasma lipid peroxidation in epileptic patients with abnormal magnetic resonance imaging (MRI) findings significantly increased as compared with that of 16 healthy children (P < .05), whereas antioxidant enzymes were not significantly affected. Both medically controlled and intractable children with normal MRI had higher activities of superoxide dismutase than those of controls (P < .05). The activity of superoxide dismutase in epileptic patients with structural abnormality did not significantly change as compared with controls. Activity of glutathione peroxidase in all of the epileptic children was not significantly different from controls. The activity of antioxidant enzymes or plasma malonyldialdehyde levels did not correlate with duration of epilepsy, frequency of seizures (> one seizure per month or not), and the presence or localization (focal, multifocal, or generalized) of electroencephalographic or MRI abnormalities. Increased plasma lipid peroxidation may be causally related to the presence of structural abnormality rather than ongoing epileptic activity or therapy status. (J Child Neurol 2002;17:673-676).
Clinical and Macroscopic Correlates of Minicolumnar Pathology in Autism
Authors: Casanova Manuel F. , Buxhoeveden Daniel P. , Brown Caroline
Published: March 2008

All subcortical arrangements are primarily nuclear in type. The cortex has been the first part of the brain to evolve a radial and laminar arrangement of cells. The resultant modular arrangement is based on the cell minicolumn: a self-contained ecosystem of connectivity linking afferent, efferent, and inerneuronal connections. Recently, the cell minicolumn has been found to be abnormal in patients with autism. This article relates different aspects of the cell minicolumn and larger-scale neuronal assemblies to potential research techniques and their application to clinical practice. (J Child Neurol 2002;17:692-695).
Treatment of Subacute Sclerosing Panencephalitis With Interferon-α, Ribavirin, and Inosiplex
Authors: Solomon Tom , Hart C. Anthony , Vinjamuri Sobhan , Beeching Nicholas J. , Malucci Conor , Humphrey Peter
Published: March 2008

Subacute sclerosing panencephalitis is an almost universally fatal late complication of measles infection for which there is no established treatment. We report a patient with subacute sclerosing panencephalitis who was bed-bound and ataxic and had a left hemiparesis and frequent myoclonus. He was started on a new regimen consisting of intraventricular interferon-α (starting at 100,000 U/m2/day, building up to 1 million U/m2/day), ribavirin (60 mg/kg/day intravenously), and inosiplex (3 g/day) and improved markedly. At 10 weeks, the intraventricular reservoir was removed because of bacterial infection, and he was discharged home on oral ribavirin (1200 mg/kg/day) and inosiplex. He continued to improve as judged by neurologic examination, functional independence measurement, neuropsychometry and single photon emission computed tomography (SPECT) imaging. However, after 10 months, he deteriorated suddenly and died before further intraventricular treatment could be instituted. Further trials are needed to evaluate long-term combination therapy in subacute sclerosing panencephalitis. (J Child Neurol 2002;17:703-705).
Spinal Muscular Atrophy With Congenital Fractures: Postmortem Analysis
Authors: Van Toorn Ronald , Davies John , Wilmshurst Jo M.
Published: March 2008

We present a male infant with congenital fractures and features typical of spinal muscular atrophy. Mid-shaft fractures of the left humerus and both femurs occurred in utero. The patient died at 8 months of age following recurrent respiratory tract infections. His peripheral electrophysiologic studies were consistent with anterior horn cell disease. Molecular genetic studies were negative for the SMN gene. At autopsy, extensive anterior horn cell loss was present. There was extensive disease of skeletal muscle with relative sparing of the diaphragm. This patient represents a further case of this rare and fatal disease. (J Child Neurol 2002;17:721-723).
Reduced Brain Size and Gyrification in the Brains of Dyslexic Patients
Authors: Casanova Manuel F. , Araque Julio , Giedd Jay , Rumsey Judith M.
Published: March 2008

Dyslexia is a specific learning disability that affects the way in which a person acquires reading skills. The pathologic substrate of the condition has been debated in the literature. Conclusions from postmortem studies remain controversial because series have been based on few and often ill-characterized cases. The present article expands on one of the reported neuropathologic findings in dyslexia, that is, wider minicolumns. Measurements were made of magnetic resonance images in a series of 16 dyslexic and 14 age- and sex-matched controls. Dyslexic patients had significantly smaller total cerebral volume (P = .014) and reduced gyrification index (P = .021). No changes were noted in cortical thickness, the ratio of gray to white matter, or the cross-sectional areas of the corpus callosum and medulla oblongata. The findings, although not conclusive, are in keeping with a minicolumnar defect in dyslexia. The decreased gyrification and preserved cortical thickness can alter the information processing capacity of the brain by providing a greater degree of cortical integration at the expense of a slower response time. The article also emphasizes the contrast between findings in dyslexia and in autism. (J Child Neurol 2004;19:275-281).
Further Analysis of the Impact Factors and Submission Information for the Journal of Child Neurology
Authors: Brumback Roger A.
Published: March 2008

Now in its nineteenth volume year, the Journal of Child Neurology continues its preeminence among child neurology journals. The Institute of Scientific Information impact factor value for the year 2002 of 1.338 places the JournaL of Child Neurology seventy-first in rank among the 138 clinical neurology journals. Since 1998, the rejection rate for manuscripts has been nearly 25%, with more than half of the accepted manuscripts originating in North America. In its first 18 volumes, the journal published 2144 items as listed in the PubMed database of the National Library of Medicine, and for 2003, the PubMed database indexed 176 published items from the Journal of Child Neurology. (J Child Neurol 2004; 19:290-293).