bluuebunny/crossref_metadata_2025 huggingface dataset:
One-Year Outcome of Auditory-Tactile-Visual-Vestibular Intervention in the Neonatal Intensive Care Unit: Effects of Severe Prematurity and Central Nervous System Injury
Authors: Nelson Michael N. , White-Traut Rosemary C. , Vasan Ushanalini , Silvestri Jean , Comiskey Elizabeth , Meleedy-Rey Patricia , Littau Susan , Guoguang Gu  , Patel Minu
Published: March 2008

Thirty-seven infants with severe central nervous system injury or extreme prematurity were randomly assigned to a multisensory (auditory-tactile-visual-vestibular) intervention or control group. Intervention began in the hospital at 33 weeks' postconceptional age and continued twice daily in the home until 2 months' corrected age. Mother-infant interactions during feedings were videotaped, and the Bayley Scales of Infant Development were administered. Control mothers stimulated their infants more during feeding, but these significant differences dissipated by 4 months. The presence of periventricular leukomalacia was associated with significantly poorer mental development, regardless of group assignment. Experimental infants tended to exhibit better motor and mental performance and had 23% fewer cerebral palsy diagnoses at 1 year, but these trends were not statistically significant. The type of brain injury was more important in determining 1-year developmental outcome than type of postnatal experience, suggesting that periventricular leukomalacia presents a major challenge for infant development. (J Child Neurol 2001;16:493-498).
Neuropsychiatric Genetics: Misclassification in Linkage Studies of Phenotype-Genotype Research
Authors: Burd Larry , Kerbeshian Jacob , Klug Marilyn G.
Published: March 2008

Research on neuropsychiatric disorders has produced a number of very important findings in the last few decades. However, several problems continue to hinder research in this area. One problem area has been the appropriate classification of disease status for probands and extended family members in linkage studies. In this article, we examine rates of misclassification in a 12-year follow-up study of children previously diagnosed with Tourette syndrome. At the 12-year follow-up, we found a 5 to 12% rate of misclassification of previously diagnosed cases. We present a model of a linkage study with three classification steps. The model demonstrates that an error rate of 5% would result in misclassification of 20% of true cases by step three. Adding additional steps to improve diagnostic accuracy may increase rather than decrease classification error. (J Child Neurol 2001;16:499-504).
Pseudomeningoencephalitic Presentation of Pediatric Guillain-Barré Syndrome
Authors: Bradshaw Deborah Young , Jones H. Royden
Published: March 2008

Guillain-Barré syndrome is an acute, autoimmune polyradiculoneuropathy that improves with immune-modulating treatment if instituted early in the illness. Preliminary diagnosis relies on the clinician's recognition of the typical symptoms and signs as supporting evidence of the illness, such as nerve conduction studies, which may not be available emergently. We report eight children with Guillain-Barré syndrome in whom the initial presentation was atypical and suggested a primary central nervous system illness. In these patients, the predominant clinical symptoms included drowsiness, headache, irritability, and meningismus, although the classic features of Guillain-Barré syndrome (weakness, hyporeflexia) were also present. The atypical presentation caused delay in diagnosis in some cases. It is important to recognize this variant of pediatric Guillain-Barré syndrome to ensure expeditious diagnosis and treatment. (J Child Neurol 2001;16:505-508).
Political Strategy 101: How to Make Health Policy and Influence Political People
Authors: Mebane Felicia , Blendon Robert J.
Published: March 2008

Many health policy decisions that affect how health care professionals care for their patients are made by the federal government or state and local governments. For most health care professionals, the policy-making process is a mystery. Health policy decisions made by elected and appointed officials in various branches of government are influenced by political factors often unfamiliar to the decision-making process of health care professionals. With some guidance on how to think critically about politics, health care professionals can influence the development, passage, and implementation of government-sponsored health policies that affect their patients. Based on insights gleaned from experience, accounts of the policy-making process, and political science literature, this article describes a process of gathering and analyzing political information that can aid physicians in developing a strategy that will help them influence the political agenda and their patients' care. (J Child Neurol 2001;16:513-519).
Magnetic Resonance Spectroscopy and Magnetic Resonance Imaging Findings in Krabbe's Disease
Authors: Zarifi Maria K. , Tzika A. Aria , Astrakas Loukas G. , Young Poussaint Tina , Anthony Douglas C. , Darras Basil T.
Published: March 2008

Two twins with late infantile globoid cell leukodystrophy or Krabbe's disease were studied with conventional magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy. Brain MRI demonstrated brain atrophy with extensive bilateral symmetric abnormal T2 signal in the posterior periventricular white matter, parietal lobes, corona radiata, centrum semiovale, and splenium of the corpus callosum. Magnetic resonance imaging-guided proton magnetic resonance spectroscopy revealed prominent peaks from choline-containing compounds, total creatine, and inositols. The N-acetylaspartate peak was markedly reduced, and the choline-to- N-acetylaspartate ratio was abnormally high; in one of the twins, lactic acid was also detected. The constellation of magnetic resonance spectroscopy findings is indicative of extensive demyelination, gliosis, and loss of axons in the involved white matter; the latter two events occur in the later stages of globoid cell leukodystrophy. In conjunction with brain MRI, these magnetic resonance spectroscopy findings may alert clinicians to the possibility of leukodystrophy in children with progressive encephalopathy. (J Child Neurol 2001;16:522-526).
Diffusion-Weighted Imaging in Moyamoya Disease
Authors: Soman Teesta B. , Takeoka Masanori , Dooling Elizabeth C. , Caviness Verne
Published: March 2008

Moyamoya disease is characterized by progressive intracranial vascular stenoses of the circle of Willis, resulting in successive ischemic events. We report serial diffusion-weighted imaging studies in a case of moyamoya disease. A 4-year-old right-handed patient presented with multiple infarcts in the right and left hemispheres. Each new infarct was unambiguously recognized as bright on diffusion-weighted imaging. Previous infarcts, readily detected on other magnetic resonance imaging sequences, were not bright on diffusion-weighted imaging. The patient subsequently underwent bilateral synangiosis. In this case, the diffusion-weighted images were helpful in assessing the extent of infarcts, determining the age of the lesion, and correlation with new clinical findings. We emphasize the usefulness of diffusion-weighted imaging for following the clinical course of children with moyamoya disease, in whom new focal deficits are highly suspicious of new infarcts. (J Child Neurol 2001;16:526-530).
Somatosensory Evoked Potentials in Patients Affected by Unilateral Cerebrovascular Lesions With Onset During the Perinatal Period or Adulthood
Authors: Ferri Raffaele , Elia Maurizio , Musumeci Sebastiano A. , Cosentino Filomena I.I. , Roccasalva Giuseppe , Spada Rosario S. , Toscano Giuseppe
Published: March 2008

Unilateral cerebrovascular lesions occurring during adulthood have been reported to be accompanied by high-amplitude somatosensory evoked potentials over the nonaffected hemisphere; however, the mechanisms by which somatosensory evoked potential amplitude increases over the nonaffected hemisphere are still unclear. To investigate the eventual presence of similar amplitude abnormalities in children, we recorded somatosensory evoked potentials in three groups of patients: one with unilateral cerebrovascular lesions that occurred during the perinatal period and another two with unilateral cerebrovascular lesions occurring during late adulthood or old age. Group 1 was comprised of 12 children and young adults (age range 23/12-31 years, 6 males and 6 females) who suffered from unilateral cerebrovascular lesion with perinatal onset. Four control groups were arranged with age matched to that of the patients. Adult patients were subdivided into two subgroups (group 2: n = 10, all males; group 3: n = 18, 12 males and 6 females) on the basis of the presence or absence of sensory impairment over the hemiplegic side. In group 1, the four youngest subjects, aged less than 6 years, were found to show somatosensory evoked potentials of abnormally high amplitude over the nonaffected hemisphere, with a "giant" main negative wave at around 45 ms (range 38.7-49.2), strictly localized over the central areas contralateral to the lesion; in normal controls, there was no such wave. All patients in group 2 were found to be affected by large infarctions in the territory of the middle cerebral artery, whereas patients in group 3 presented with subcortical lesions of the internal capsule isolated or in association with an involvement of the frontal and/or temporal cortex. Regarding somatosensory evoked potential parameters measured over the nonaffected hemisphere in adult/elderly subjects, a significant difference was observed for N20 and P22 latency, which was longer in both groups of patients than in controls. There is a significant difference in the neurophysiologic consequences of unilateral cerebrovascular lesion, as well as over the nonaffected hemisphere, if it occurs during early infancy or during adulthood. Our findings show a new type of "giant" somatosensory evoked potentials in some children affected by unilateral cerebrovascular lesion with perinatal onset. (J Child Neurol 2001;16:541-547).
Temporal Lobectomy in Early Childhood: The Need for Long-Term Follow-Up
Authors: Sotero de Menezes Márcio A. , Connolly Mary , Bolanos Addison , Madsen Joseph , Black Peter McL. , Riviello James J.
Published: March 2008

We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG), neuroimaging, surgery, seizure outcome, and postoperative complications were reviewed. Only patients followed for more than 12 months were included. The average duration of follow-up was 57 months. At the last visit, 47% (7 of 15) of the children were seizure free or only had auras; another 33% (5 of 15) had > 90% reduction in seizure frequency. Three patients had < 90% seizure reduction. Four cases were initially seizure free but had subsequent recurrence between 11 and 28 months after the epilepsy surgery. Factors associated with a good outcome include exclusively focal EEG discharges or an imaging suggestive of a low-grade tumor; factors associated with a poor outcome include generalized EEG discharges and a normal magnetic resonance image. Temporal lobectomy is useful in the treatment of early childhood drug-resistant partial epilepsy, but long-term follow-up is necessary as late seizure recurrence may occur up to 28 months after surgery. (J Child Neurol 2001;16:585-590).
Prognostic Significance of Hyperechogenic Lesions in the Basal Ganglia and Thalamus in Neonates
Authors: Kashman Nili , Kramer Uri , Stavorovsky Zahava , Shefer-Kaufmann Niva , Harel Shaul , Mimouni Francis B. , Dollberg Shaul
Published: March 2008

Neonatal cranial ultrasonography at times reveals hyperechogenic lesions in the basal ganglia and thalamus. These lesions have been attributed to a wide variety of pathologic states, among them toxoplasmosis, rubella, cytomegalovirus, and herpes simplex (TORCH) infections, chromosomal abnormalities, and asphyxia. The clinical significance in terms of the neurodevelopmental outcome of this radiologic abnormality is unknown. We performed a developmental evaluation on 16 children aged 2 to 6 years in whom neonatal cranial ultrasonography had demonstrated hyperechogenic lesions in the basal ganglia or thalamus and had no other neurodevelopmental risk factors. There was no significant difference between the average Developmental Quotient of the target population and the normal population in regard to developmental status. We conclude that in our population, an isolated finding of hyperechogenic lesions in the basal ganglia is probably not a predictor of poor neurodevelopmental outcome. (J Child Neurol 2001;16:591-594).
Congenital Varicella Syndrome: Case With Isolated Brain Damage
Authors: Dimova Petia S. , Karparov Alexander A.
Published: March 2008

We report a case of congenital varicella syndrome after maternal infection during the 10th week of pregnancy. None of the typical abnormalities were manifested at birth; however, the child experienced neonatal tonic convulsions that evolved to refractory focal epilepsy with adversive, complex partial, and secondarily generalized seizures. At the age of 5 years, after a prolonged generalized seizure following cranial trauma, cranial computed tomography (CT) was performed. It led to the misdiagnosis of post-traumatic intracerebral hemorrhage. Afterwards, because of persistent seizures and developmental delay with mild or slight intellectual deficit, the next CT and magnetic resonance imaging (MRI) investigation at 8 years of age disclosed massive malformation of the left cerebral hemisphere. The serologic evidence of varicella-zoster virus-specific IgG antibodies without a history of varicella disease after birth and maternal infection during early pregnancy were crucial to diagnosing the rare syndrome of congenital varicella consisting of isolated brain damage. (J Child Neurol 2001;16:595-597).
Changes in the Antioxidant System in Epileptic Children Receiving Antiepileptic Drugs: Two-Year Prospective Studies
Authors: Yüksel Adnan , Cengiz Müjgan , Seven Mehmet , Ulutin Turgut
Published: March 2008

The aim of this study was to measure changes in the antioxidant systems of epileptic children who had been receiving either valproate or carbamazepine monotherapy for 2 years. For this purpose, levels of erythrocyte glutathione, glutathione peroxidase, superoxide dismutase, and serum lipid peroxidation in 25 healthy children and 27 children who had previously been diagnosed as having epilepsy but who had not, prior to the study, received antiepileptic drugs were tested. Of the 27 epileptic children, 14 were given valproate, and the remaining 13 were given carbamazepine; these tests were repeated in the 13th and 24th months of treatment. The results showed that, during valproate therapy, the lipid peroxidation levels of the epileptic children increased and the glutathione peroxidase levels decreased in comparison with those levels recorded in the control and pretreatment groups. In addition, the superoxide dismutase levels were found to be increased during the first year of valproate therapy when compared with those of the pretreatment group. However, during carbamazepine therapy, lipid peroxidation levels increased when compared with the control group only, not the pretreatment group. Furthermore, the results showed that during the second year of treatment, the superoxide dismutase levels of the children receiving carbamazapine monotherapy were found to be higher than those of both the control and pretreatment groups. From these results, it can be concluded that the antioxidant systems of the children who had been receiving valproate therapy during the 2 years were more significantly affected than those of the children who had been receiving carbamazepine. (J Child Neurol 2001;16:603-606).
Neurofibromatosis Type 1 Presenting With Hand Dystonia
Authors: Di Capua Matteo , Lispi Maria Luisa , Giannotti Aldo , Longo Daniela , Fariello Giuseppe
Published: March 2008

Neurofibromatosis type 1 is frequently associated with increased intensity T2-weighted magnetic resonance imaging (MRI) brain abnormalities, called "unidentified bright objects." Unidentified bright objects are generally held to be benign and tend to decrease in size during adulthood. We describe a case of neurofibromatosis type 1 with a similar thalamic and subthalamic MRI abnormality associated with contralateral hand dystonia. Over a 2-year follow-up, the lesions showed a reduction in size apparently correlated with a reduction in symptoms. (J Child Neurol 2001;16:606-608).
Cavernous Angioma of the Brain Stem Simulating Diffuse Pontine Glioma
Authors: Xue Ming  , Gonzales Cynthia , Burrowes Delililah , Lastra Carlos , Antunes Nuno
Published: March 2008

Brainstem vascular malformations can sometimes simulate other conditions such as multiple sclerosis and pontine glioma. We report a case of brainstem cavernous angioma for which clinical course and radiologic appearance were suggestive of a pontine glioma. The diagnosis was uncertain until the clinical and radiologic evolution made it clear that the patient had a cavernous angioma. We suggest that brainstem angioma be considered as a differential diagnosis for pontine glioma. (J Child Neurol 2001;16:614-615).
Continuous-Display Four-Channel Electroencephalographic Monitoring in the Evaluation of Neonates With Paroxysmal Motor Events
Authors: Alfonso Israel , Jayakar Prasanna , Yelin Karina , Dunayer Catalina , Papzian Oscar , Vasconcellos Elza , Valeron Nestor M.
Published: March 2008

The objective of this study was to determine the value of continuous-display four-channel electroencephalographic (EEG) monitoring to distinguish epileptic from nonepileptic paroxysmal motor events. Five full-term neonates with paroxysmal motor events were included in the study. Nurses were instructed to print contiguous pages of the continuous-display four-channel EEG monitoring and to activate the event marker on the simultaneously conducted continuous video-EEG telemetry unit during each paroxysmal motor event. The printouts from the continuous-display four-channel EEG monitoring were interpreted and compared with the corresponding segments of continuous video-EEG telemetry. Thirty paroxysmal motor events were captured. Sixteen paroxysmal motor events were epileptic, and 14 were nonepileptic. The interpretation of the printouts of the continuous four-channel EEG monitoring concurred with an independent interpretation of the corresponding video-EEG telemetry segments in all of the events. Continuous-display four-channel EEG monitoring is a valuable tool in the evaluation of neonates with paroxysmal motor events since it reliably distinguishes epileptic and nonepileptic events. (J Child Neurol 2001;16:625-628).
Benign Parasomnias and Nocturnal Frontal Epilepsy: Differential Diagnosis in a Case Report
Authors: Gaggero Roberto , Devescovi Raffaella , Nobili Lino , Baglietto Maria Giuseppina , Zucconi Marco , Schinardi Alessia
Published: March 2008

We report the case of a 13-year-old boy who complained of complex motor episodes during sleep characterized by sudden arousal followed by deambulation associated with automatic movements and vocalization. His family history included both epileptic and psychiatric disorders. The patient himself presented psychopathologic traits and adaptive difficulties. In support of an epileptic origin of these phenomena were the stereotyped fashion in which they appeared and their responsiveness to carbamazepine. We classified the present case as a nocturnal frontal epilepsy with variable manifestations that can be classified as paroxysmal arousals, paroxysmal dystonia, and epileptic nocturnal wanderings. It was possible to differentiate such events from the most common parasomnias on the basis of videopolysomnographic studies. (J Child Neurol 2001;16:628-631).
Profile of Referrals for Early Childhood Developmental Delay to Ambulatory Subspecialty Clinics
Authors: Shevell Michael I. , Majnemer Annette , Rosenbaum Peter , Abrahamowicz Michal
Published: March 2008

The objective of this study was to determine the profile and pattern of referral to subspecialty clinics of young children with suspected developmental delay together with the factors prompting their referral. All children under 5 years of age referred to either developmental pediatrics or pediatric neurology clinics at a single tertiary hospital over an 18-month period were prospectively identified. Standardized demographic and referral information were collected at intake, final developmental delay subtype diagnosed was identified, and referring physicians were surveyed regarding factors prompting referral. A total of 224 children met study criteria. There was a marked male preponderance (166/224), especially among those with either cognitive or language delay. Two delay subtypes, global developmental delay and developmental language disorder, accounted for two thirds of the diagnoses made. For slightly more than one third of the children (75/224), the delay subtype diagnosed following specialty evaluation was different from that initially suspected by the referring physician. A mean delay of 15.5 months was observed for the cohort as a whole between initial parental concern and specialty assessment. For referring physicians, the major factor prompting referral was the severity of the observed delay. The most important aspects of the specialty evaluation according to referral sources were the identification of a possible etiology and confirmation of delay. A profile of referrals and the rationale thereof for a cohort of children with suspected developmental delay is presented that, although locale specific, has implications for service provision and training. (J Child Neurol 2001;16:645-650).
Lactic Acid Elevation in Extramitochondrial Childhood Neurodegenerative Diseases
Authors: Kang Peter B. , Hunter Jill V. , Kaye Edward M.
Published: March 2008

We report three children, each of whom seemed to have a primary mitochondrial disorder at presentation but was eventually diagnosed with an extramitochondrial inherited metabolic disease. The first patient presented at 6 months with developmental delay. Magnetic resonance imaging showed an abnormal signal in the white matter, and magnetic resonance spectroscopy showed elevated lactate peaks. A muscle biopsy showed complex IV deficiency, but leukocyte measurement of galactosylceramide β-galactosidase activity was markedly diminished, consistent with Krabbe's disease. The second patient presented at birth with seizures and later had developmental delays. There was brain atrophy on neuroimaging. Serum and cerebrospinal fluid lactate levels were elevated. She had persistently elevated urine thiosulfate, which was diagnostic for molybdenum cofactor deficiency. The third child presented at 2 months with seizures and hypotonia. Magnetic resonance imaging showed an abnormal signal in the basal ganglia and surrounding white matter, whereas magnetic resonance spectroscopy showed elevated lactate peaks. A brain biopsy was diagnostic for Alexander's disease. These cases and others in the literature suggest that lactic acid elevation in the central nervous system can be found in a number of extramitochondrial neurologic diseases. Such diseases would constitute a third category of lactic acidosis. (J Child Neurol 2001;16:657-660).
Comparison of Electroencephalographic Dipoles of Interictal Spikes from Prolonged Scalp Video- Electroencephalography and Magnetoencephalographic Dipoles from Short-Term Recording in Children With Extratemporal Lobe Epilepsy
Authors: Ochi Ayako , Otsubo Hiroshi , Sharma Rohit , Hunjan Amrita , Rutka James T. , Chuang Sylvester H. , Kamijo Ken'ichi , Yamazaki Toshimasa , Quint Patti , Kurelowech Lacey , Sobel David F. , Aung Maung H. , Carter Snead O.
Published: March 2008

We retrospectively compared electroencephalographic (EEG) dipoles of interictal spikes from prolonged video-EEG monitoring with magnetoencephalographic dipoles from short-term recording in four children with extratemporal lobe epilepsy. We analyzed both sets of dipoles using individual interictal spikes and single moving dipole modeling and evaluated the profiles of spike appearance, dipole position, and orientation in EEG and magnetoencephalography. We obtained more than 100 magnetoencephalographic spikes in two patients who manifested frequent interictal EEG spikes throughout both day and night but fewer than 40 magnetoencephalographic spikes in two patients who had interictal EEG spikes mainly during sleep. The dipole positions of EEG and magnetoencephalography were in close proximity and included in the surgical resection area. Most of the dipoles between EEG and magnetoencephalography were oriented perpendicularly. A combination of EEG dipole analysis from prolonged video-EEG monitoring and magnetoencephalographic dipole analysis provides complementary information for presurgical evaluation in children with intractable extratemporal lobe epilepsy. ( J Child Neurol 2001;16:661-667).
Central Nervous System Sjögren's Syndrome in a Child: Case Report and Review of the Literature
Authors: Gottfried Jay A. , Finkel Terri H. , Hunter Jill V. , Carpentieri David F. , Finkel Richard S.
Published: March 2008

We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance imaging (MRI) showed a left dorsal midbrain lesion. Serologic and histopathologic findings confirmed primary Sjögren's syndrome. She responded well to intravenous methylprednisolone, with subsequent clinical improvement and MRI resolution. This report reviews the pediatric literature and underscores the importance of considering Sjögren's syndrome in a child with unexplained facial weakness and in the differential diagnosis of pediatric stroke. (J Child Neurol 2001;16:683-685).
Neonatal Electroencephalogram Does Not Predict Cognitive and Academic Achievement Scores at Early School Age in Survivors of Neonatal Extracorporeal Membrane Oxygenation
Authors: Goodman Michael , Gringlas Marcy , Baumgart Stephen , Stanley Christian , Desai Shobhana A. , Turner Martha , Streletz Leopold J. , Graziani Leonard J.
Published: March 2008

Extracorporeal membrane oxygenation is an effective rescue treatment for severe cardiorespiratory failure in term or near-term neonates, although a wide range of neurologic sequelae have been noted in a substantial minority of survivors. The objective of the present study was to determine the value of the neonatal electroencephalogram (EEG) for predicting Wechler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), Wide Range Achievement Test, and Wide Range Assessment of Memory and Language scores at early school age in 66 testable survivors of extracorporeal membrane oxygenation who were not severely brain damaged. Technically satisfactory EEG recordings were obtained at least twice following admission to our nursery and prior to discharge. The EEGs were classified and graded according to standard criteria. The developmental test results of those who had only normal or mildly abnormal neonatal EEGs (group 1, n = 9) were compared with those who had at least one moderately or markedly abnormal recording (group 2, n = 57). School-age test and subtest scores were not statistically significantly worse in group 2 versus group 1 infants. No child in group 1 and five children in group 2 had WPPSI-R Full-Scale IQ scores of less than 70. Of the nine children in group 2 who had at least one markedly abnormal neonatal EEG recording (graded as burst suppression or as electrographic seizure), only two had abnormally low WPPSI-R Full-Scale IQ scores. We conclude that EEG recordings obtained during the neonatal course of neonates treated with extracorporeal membrane oxygenation do not predict cognitive and academic achievement test results in survivors at early school age who were testable and not severely brain damaged. (J Child Neurol 2001;16:745-750).
Quantitative Assessment of Brainstem Development in Joubert Syndrome and Dandy-Walker Syndrome
Authors: Maria Bernard L. , Bozorgmanesh Alilreza , Kimmel Kimberly N. , Theriaque Douglas , Quisling Ronald G.
Published: March 2008

Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus—the junction of the pons and mesencephalon. Interestingly, 1 in 10 patients with Joubert syndrome has abnormal cerebrospinal fluid collections misdiagnosed as Dandy-Walker variants. Because of important differences in patient management, genetic counseling, and prognosis between these conditions, we undertook a study to determine if the brainstem isthmus is normal in Dandy-Walker syndrome. Using standard landmarks, we evaluated development of the isthmus in normal subjects and in subjects with Joubert syndrome and Dandy-Walker syndrome. Four of five brainstem measures increased with age in normal subjects. In subjects with Joubert syndrome, the depth and length of the interpeduncular fossa were increased, and the width of the isthmus was decreased. In subjects with Dandy-Walker syndrome, the width of the brainstem isthmus was normal, and the molar tooth sign was absent. Although the pons can be hypoplastic in Dandy-Walker syndrome, we conclude that the pontomesencephalic junction is normal. Thus, the molar tooth sign can effectively distinguish between Joubert and Dandy-Walker syndromes. Genetic heterogeneity or epigenetic factors may account for abnormal cerebrospinal fluid collections in some cases of Joubert syndrome. (J Child Neurol 2001;16:751-758).
Neuropathology of Occipital Horn Syndrome
Authors: Palmer Cheryl Ann , Percy Alan K.
Published: March 2008

Occipital horn syndrome, formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is an allelic variant of Menkes' syndrome. Although the clinical symptomatology and systemic pathology findings have been well described in occipital horn syndrome, the neuropathology has not previously been reported. A kindred affected by the X-linked occipital horn syndrome is followed at the University of Alabama at Birmingham. A severely mentally retarded dysmorphic man, who died at the age of 26 years, never gained the ability to walk or talk. Among other findings at autopsy, the patient had the skeletal anomalies previously described with occipital horn syndrome. Neuropathologic findings included neovascularization and extreme reduplication of the cerebral arteries, in conjunction with cystic medial degeneration; bilateral cerebellar hypoplasia; focal cortical dysplasia, and cerebellar heterotopias. These findings are similar to those seen in the brains of patients with Menkes' syndrome, which is not surprising, given the known phenotypic overlap and the proven allelism of occipital horn syndrome with classic Menkes' syndrome. (J Child Neurol 2001;16:764-766).
Sleep Disorders Caused by Brainstem Tumor: Case Report
Authors: Ioos Christine , Estournet-Mathiaud Brigitte , Pinard Jean-Marc , Cheliout-Héraut Fawzia
Published: March 2008

Few studies concerning sleep disorders in brainstem lesions or tumors have been published. We report the case of a girl who was operated on for a brainstem tumor at the age of 4 years. In post-surgery, she had hemiparesis of the left side, swallowing difficulties, and severe apneas requiring a tracheotomy with nocturnal ventilation. The child's health improved progressively. Two sleep recordings were performed at 7 and 9 years without nocturnal ventilation. These recordings showed sleep disorders with a decrease in total sleep time and rapid eye movement (REM) sleep. Several central apneas were observed. The apneas were more frequent during REM sleep in the first recording and were associated with desaturation and microarousals. (J Child Neurol 2001;16:767-770).
Study of Influenza-Associated Encephalitis/Encephalopathy in Children During the 1997 to 2001 Influenza Seasons
Authors: Yoshikawa Hideto , Yamazaki Sawako , Watanabe Toru , Abe Tokinari
Published: March 2008

The 1997 to 2001 influenza A epidemics in Japan were markedly neurovirulent, and many children died of influenza-associated encephalitis/encephalopathy We studied 20 patients with influenza-associated encephalitis/encephalopathy during the last four influenza seasons. No patients had been previously inoculated with influenza vaccine. Antipyretics were used in 16 patients before the onset of encephalopathy. Although all patients were treated intensively, 5 patients died and 8 had neurologic sequelae. Patients with coagulopathy, hepatic dysfunction, and computed tomographic abnormalities had a poor prognosis. The plasma concentrations of inflammatory cytokines were variable. The neuroradiologic findings could be divided into four categories. These findings indicated that the pathogenesis of the brain damage induced by influenza infection was variable. Further investigation is necessary to determine whether insufficient influenza vaccination or the use of antipyretics is one of the reasons for these epidemics of encephalopathy in Japanese children. (J Child Neurol 2001;16:885-890).
Tissue Inflammatory Response in Subacute Sclerosing Panencephalitis (SSPE)
Authors: Anlar Banu , Söylemezoğlu Figen , Aysun Sabiha , Köse Gülsen , Belen Deniz , Yalaz Kalbiye
Published: March 2008

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-γ, and tumor necrosis factor-α (TNF-α) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course. (J Child Neurol 2001;16:895-900).
Evidence of a Specific Vulnerability for Deficient Sequential Cognitive Information Processing in Epilepsy
Authors: Haverkamp Fritz , Hanisch Charlotte , Mayer Hans , Noeker Meinolf
Published: March 2008

The aim was to study sequential versus simultaneous cognitive information processing and their relation to acquired intellectual abilities in children with epilepsy. A total of 175 children with epilepsy (mean age 8.7 years; SD 2.9) were neuropsychologically examined on the basis of the Kaufman Assessment Battery for Children (K-ABC). To avoid con-foundation with factors other than epilepsy, patients with underlying metabolic disorders or patients who were incapable of neuropsychologic testing because of severe mental retardation were excluded. We found significantly reduced cognitive processing, especially in sequential information processing compared with simultaneous information processing (mean score 85.9 versus 91.0). This selective impairment in sequential cognitive processing turned out to be a good statistical predictor for acquired abilities in the group of idiopathic epilepsy (β = 0.53; P < .01), indicating a specific epileptic neuropsychologic association. Our findings provide evidence of a specific vulnerability for deficient sequential information processing presumably impairing academic achievement in childhood epilepsy. (J Child Neurol 2001;16:901-905).
Acute Gastroenteritis-Related Encephalopathy
Authors: Wong Virginia
Published: March 2008

We studied the incidence of convulsions in 1936 children with acute gastroenteritis. Sixty-eight children had convulsions (3.5%), which were categorized into three groups: (1) bacterial (n = 13; 19%), (2) Rotavirus (n = 30, 44%), and (3) no organism (n = 25; 37%). Only group 2 versus group 3 had a significant association with encephalopathy (P < .002). The relative risk was estimated to determine the risk of encephalopathy: Rotavirus versus no organism isolated (relative risk = 2.308), Rotavirus versus bacterial (relative risk = 1.846), and bacterial versus no organism (relative risk = 1.25). None developed epilepsy. Thus, acute gastroenteritis-related encephalopathy is a benign condition with single or recurrent seizures during an episode of acute gastroenteritis and an excellent prognosis. The underlying mechanism for provoking seizure is unknown. One should be reassured of a good outcome in the majority of children with recurrent episodes of afebrile/febrile seizures during an episode of acute gastroenteritis. (J Child Neurol 2001;16:906-910).
Pervasive Seizures Caused by Hypoxic-Ischemic Encephalopathy: Treatment With Intravenous Paraldehyde
Authors: Armstrong Damien L. , Battin Malcolm R.
Published: March 2008

Seizures are commonly associated with hypoxic-ischemic encephalopathy. Although the majority of cases are controlled with first- or second-line therapy, others develop pervasive seizures, requiring multiple anticonvulsants. To provide data on the incidence of seizures and response to anticonvulsant therapies, a cohort of 90 term infants with hypoxic-ischemic encephalopathy treated at our institution between January 1, 1995, and July 1, 1999, was reviewed. Of the 60 infants who developed seizures, 59 received phenobarbital initially; in 29 cases, the seizures resolved. The remaining 30 infants received phenytoin as a second-line anticonvulsant, and seizures stopped in 10 cases. The 20 infants with ongoing pervasive seizures were treated with intravenous paraldehyde. (J Child Neurol 2001;16:915-917).
Neuropathologic Research Strategies in Holoprosencephaly
Authors: Samat Harvey B. , Flores-Samat Laura
Published: March 2008

Hypotheses are presented to explain the pathogenesis of several clinical features of holoprosencephaly, and neuropathologic approaches to testing these hypotheses are suggested. The traditional morphologic classification of holoprosencephaly into alobar, semilobar, and lobar forms is grades of severity, and each occurs in all of the genetic mutations known. Of the four defective genes identified as primary in human holoprosencephaly, three exhibit a ventrodorsal gradient of expression (SHH, SIX3, and TGIF) and one a dorsoventral gradient (ZIC2). But, in addition to the vertical axis, genes expressed in the neural tube also may have rostrocaudal and mediolateral gradients in the other axes. These other gradients may be equally as important as the vertical. If the rostrocaudal gradient extends as far as the mesencephalic neuromere, it may interfere with the formation, migration, or apoptosis of the mesencephalic neural crest, which forms membranous bones of the face, orbits, nose, and parts of the eyes, and may explain the midfacial hypoplasia seen in many, but not all, children with holoprosencephaly. This rostrocaudal gradient also causes noncleavage of the caudate nucleus, thalamus, and hypothalamus and contributes to the formation of the dorsal cyst of holoprosencephaly, which is probably derived from an expanded suprapineal recess of the 3rd ventricle with secondary dilation of the telencephalic monoventricle and at times may produce a unique transfontanellar encephalocele. The extent of the mediolateral gradient may explain the severe disorganization of cerebral cortical architecture in medial parts of the forebrain and normal cortex in lateral parts, including the radial glial fibers. This preserved lateral cortex may explain why some children with holoprosencephaly have better intellectual function than expected and may also be important in the pathogenesis of epilepsy, by contrast with malformations such as lissencephaly, in which the entire cerebral cortex is involved. Epilepsy in some, but not all, cases also may be related to the sequential maturation of axonal terminals in relation to the neurons they innervate. Diabetes insipidus is a complication in a majority of patients; other neuroendocrinopathies occur less frequently. Secondary down-regulation of the OTP gene or of downstream genes such as BRN2 or SIM1 may result in failure of terminal differentiation of magnocellular neurons of the supraoptic and paraventricular hypothalamic nuclei. Disoriented radial glial fibers or abnormal ependyma may allow aberrant migration of neuroepithelial cells into the ventricle. A new classification of holoprosencephaly is needed to integrate morphologic and genetic criteria. (J Child Neurol 2001;16:918-931).
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome: Characteristic Early Magnetic Resonance Imaging Findings
Authors: Freeman Jeremy L. , Coleman Lee T. , Smith Lindsay J. , Shield Lloyd K.
Published: March 2008

We report three patients with hemiconvulsion-hemiplegia-epilepsy syndrome who presented acutely and were shown to have striking neuroimaging findings suggestive of diffuse cytotoxic edema confined to one hemisphere, including extensive diffusion-weighted imaging abnormalities in two cases. Two patients subsequently developed progressive and extensive atrophy of the involved hemisphere. These findings are consistent with earlier descriptions of the classic neuroradiologic features of this syndrome and are helpful in the differential diagnosis of acute infantile hemiplegia. Further, the findings support the previously proposed pathogenetic mechanism of neuronal injury caused by status epilepticus. (J Child Neurol 2002;17:10-16).
Relationship of Epilepsy-Related Factors to Anxiety and Depression Scores in Epileptic Children
Authors: Oguz Abdulfettah , Kurul Semra , Dirik Eray , Eylül Dokuz
Published: March 2008

Cognitive and behavioral impairments are found more often among epileptic children than among their peers. In this study, we evaluated the anxiety and depression in epileptic children to compare their results with that of a healthy control group and to determine the relationship of anxiety and depression scores to epilepsy-related factors. The State Trait Anxiety Inventory (STAI) and Children's Depression Inventory (CDI) were applied to 35 patients with epilepsy aged 9 to 18 years (mean age 12.9 ± 2.52 years) and to 35 healthy children who served as the control group. Both study and control groups were divided into two age groups (9 to 11 and 12 to 18 years) to exclude the effect of puberty on anxiety and depression scores. Significant depression and suicidal ideation were determined in the study group. The mean trait anxiety score was significantly higher in the 9- to 11-year age group of epileptic patients than the corresponding control group (35.90 ± 6.90 and 29.33 ± 2.84, P < .05). The mean state anxiety score (33.90 ± 3.90 and 30.40 ± 6.02, P <.05), trait anxiety score (38.20 ± 6.84 and 32.20 ± 3.90, P < .05), and depression score (16.65 ± 8.32 and 8.15 ± 3.15, P < .05) were significantly higher in the 12- to 18-year age group of epileptic children than in the control group. Among the epilepsy-related factors, whereas epilepsy duration, seizure frequency, and polytherapy were determined to increase anxiety and depression, age of seizure onset, seizure type, and electroencephalographic findings were not related to anxiety and depression. Symptoms of anxiety and depression are common among epileptic children, especially during puberty. The State Trait Anxiety Inventory and Children's Depression Inventory may be used as a tool to provide information to clinicians. (J Child Neurol 2002;17:37-40).
Coagulation Abnormalities and Acquired von Willebrand's Disease Type 1 in Children Receiving Valproic Acid
Authors: Serdaroglu Gül , Tütüncüoğlu Sarenur , Kavakli Kaan , Tekgiil Hasan
Published: March 2008

Valproic acid is commonly used in the management of childhood epilepsy. The known hematologic side effects of the drug are hemorrhagic diatheses, thrombocytopenia, and hypofibrinogenemia. We studied coagulation parameters in 29 epileptic children receiving valproic acid for at least 6 months. Their ages ranged between 2 and 18 years (10.2 ± 4.9 years). The total valproic acid dose was 250 to 1000 mg/day equivalent to 20 to 30 mg/kg/day Treatment duration ranged from 6 to 57 months. These children had not previously had a hemostatic defect and had no family history of bleeding disorders. Platelet count, prothrombin time, activated partial thromboplastin time, bleeding time, fibrinogen, platelet aggregation assays, and ristocetin cofactor activity levels were determined in all of the patients, but von Willebrand's factor antigen levels could be determined in only 14 patients. The values of von Willebrand's factor antigen ranged from 53 to 218% (104.1 ± 42.3), and ristocetin cofactor activity levels ranged from 11.5 to 218% (94.5 ± 43.1). Six of the 29 children (20.7%) had decreased values of ristocetin and cofactor activity and were considered to have acquired von Willebrand's disease. The decreases in coagulation parameters were not dependent on either valproic acid dose or treatment duration. Two patients with low ristocetin cofactor activity values had mild epistaxis, which did not require discontinuation of therapy. In patients receiving valproic acid therapy, this side effect must be considered, especially before surgical intervention and serious traumatic conditions. (J Child Neurol 2002;17:41-43).
Posterior Cerebral Artery Occlusion Associated With Mycoplasma pneumoniae Infection
Authors: Antachopoulos Charalampos , Liakopoulou Theodota , Palamidou Fani , Papathanassiou Dimitra , Youroukos Sotiris
Published: March 2008

Cerebral infarction is a rare complication of Mycoplasma pneumoniae infection. In all cases previously reported in the literature, vascular occlusion occurred in the anterior brain circulation, either the internal carotid or the middle cerebral artery. We report a case of a child with posterior cerebral artery occlusion and resultant hemiparesis associated with M. pneumoniae infection. (J Child Neurol 2002;17:55-57).
Prevalence of Hypopigmented Maculae and Café-au-Lait Spots in Idiopathic Epileptic and Healthy Children
Authors: Karabiber Hamza , Sasmaz Sezai , Turanh Guzide , Yakinci Cengiz
Published: March 2008

The cutaneous lesions and findings related to the central nervous system are frequently seen concomitantly in many patients. Neurocutaneous syndromes are the most typical examples supporting this observation. The prevalences of hypopigmented maculae and café-au-lait spots were investigated in 210 idiopathic epileptic children between the ages of 2 and 17 years and 2754 healthy children between the ages of 5 and 15 years. In the group of epileptic children, hypopigmented maculae and café-au-lait spots were observed in 30 (14.3%) and 63 (30%) children, respectively. In the group of healthy children, the prevalence of hypopigmented maculae was 1.6% (44 children) and of café-au-lait spots was 2.83% (78 children). The difference between the two groups was very significant statistically ( P < .0001). (J Child Neurol 2002;17:57-59).
Role of Apoptosis in Duchenne's Muscular Dystrophy
Authors: Serdaroglu Ayse , Gücüyener Kivilcim , Erdem Sevim , Köse Gülşen , Tan Ersin , Okuyaz Çetin
Published: March 2008

We investigated the presence of apoptosis in muscle tissues from 24 patients (average age 5.44 ± 1.81 years) with Duchenne's muscular dystrophy by in situ tailing of nuclear fragmentation. Muscle tissue from 4 children without histologic evidence of myopathy served as normal controls. Muscle fibers positive for nuclear DNA fragmentation were determined quantitatively by counting an area of at least 400 muscle fibers. Eleven of 24 specimens showed no nuclei with DNA fragmentation. On the other hand, 0.37 ± 0.48% of fibers in patients with Duchenne's muscular dystrophy and none in controls had DNA fragmentation (P > .05). In this study, the percentage of apoptotic nuclei was higher in Duchenne's muscular dystrophy muscle than in normal controls. However, the difference did not reach a statistically significant level, and further studies with larger control groups are warranted. (J Child Neurol 2002;17:66-68).