bluuebunny/crossref_metadata_2025 huggingface dataset:
Comorbidity of Epilepsy and Headache in Patients With Sturge-Weber Syndrome
Authors: Hatfield Laura A. , Kossoff Eric H.
Published: June 2007

Sturge-Weber syndrome is associated with leptomeningeal angioma, trigeminal port-wine stain, epilepsy, and glaucoma. Clinically, many patients with Sturge-Weber syndrome are observed to have both seizures and headaches, but this has never been described in the literature. A questionnaire was mailed to 190 patients with reported comorbid epilepsy and headache as identified by the Sturge-Weber Foundation. Sixty-eight surveys were returned anonymously; 55 reported both seizures and headaches. The median age at headache onset was 8 years, with a median of three headaches per month. Fifty-eight percent felt that headaches were an equal or greater problem. Ibuprofen and acetaminophen were the most frequently tried abortive medications; 22% had tried sumatriptan. Only 22% reported a neurologist suggesting the use of an anticonvulsant as a preventive agent. Subjects with a family history of headaches had an earlier age at headache onset (7.5 vs 11 years; P = .02), and those with a family history of seizures were more likely to report behavior problems (69% vs 33%; P = .02). Subjects reporting learning problems or hemiparesis had an earlier age at seizure onset. Migraine-like headaches can be as significant a problem as epilepsy for patients with Sturge-Weber syndrome. Despite this, triptans and prophylactic medications (including anticonvulsants) were used in less than half of the patients. Correlations of family history with both age at symptom onset and behavior problems suggest that genetic substrate could be one factor determining the variable neurologic manifestations seen in Sturge-Weber syndrome. ( J Child Neurol 2005;20:678—682). From the Departments of Neurology and Pediatrics (Drs Kossoff and Comi and Ms Hatfield), The Johns Hopkins Medical Institutions, Baltimore, MD, and The Sturge-Weber Foundation (Ms Ball), Mt. Freedom, NJ.
Nonconvulsive Status Epilepticus Precipitated by Carbamazepine Presenting as Dissociative and Affective Disorders in Adolescents
Authors: Marini Carla , Parmeggiani Lucio , Masi Gabriele , D'Arcangelo Gianluca , Guerrini Renzo
Published: June 2007

Nonconvulsive status epilepticus can be confused with psychiatric disorders. Inappropriate drug treatment can represent a precipitating factor. We describe two patients with idiopathic generalized epilepsy in whom nonconvulsive status epilepticus, aggravated by carbamazepine, was misdiagnosed as psychiatric disorder. A 14-year-old girl experienced a tonic-clonic seizure at age 12 years preceded by monthly episodes of confusion with awkward behavior since age 9 years. She was treated with carbamazepine, and the episodes of confusion became more frequent, leading to a diagnosis of dissociative disorder. An electroencephalogram during one of these episodes revealed nonconvulsive status epilepticus. Substitution of carbamazepine with valproic acid controlled the episodes of status epilepticus. A 23-year-old woman presented at age 16 years with a tonic-clonic seizure. Since early adolescence, she had had episodes of depressive mood, worsening of school performances, and facial tics. Carbamazepine treatment caused worsening of the depressive episodes and facial tics. An electroencephalogram during a typical episode revealed nonconvulsive status epilepticus. Carbamazepine substitution with valproate led to seizure freedom and behavioral improvement. Nonconvulsive status epilepticus should be suspected and searched for in patients with epileptic seizures and ictal or fluctuating behavioral disorders. ( J Child Neurol 2005;20:693—696).
Rett Syndrome: Long-Term Clinical Follow-Up Experiences Over Four Decades
Authors: Hagberg Bengt
Published: June 2007

Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided. ( J Child Neurol 2005;20:722—727).
MECP2 Abnormality Phenotypes: Clinicopathologic Area With Broad Variability
Authors: Erlandson Anna , Hagberg Bengt
Published: June 2007

Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize the clinical picture of deviations in MECP2 at this moment to obtain a comprehensive overview. Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2 -deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers. In the center, with dominant numbers, we have placed classic Rett syndrome presentations, together with the late-onset Rett syndrome variant and preserved speech variant. In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations. ( J Child Neurol 2005;20:727—732).
Neuropathology of Rett Syndrome
Authors: Duncan Armstrong Dawna
Published: June 2007

Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene ( MECP2). The role of this gene in the pathogenesis of this enigmatic disorder is being extensively investigated in animal models. Rett syndrome is associated with a complex phenotype that is unique in every aspect of its presentation, clinical physiology, chemistry, and pathology. Years of concentrated observations have defined the clinical presentation of classic Rett syndrome and its variants and related features (eg, neurophysiologic, radiologic, chemical, metabolic, and anatomic). This article reviews the neuropathology of Rett syndrome, which involves individual neurons, perhaps selected neurons, of decreased size, dendritic branching, and numbers of spines. This article also summarizes the studies in the human and mouse brain with Rett syndrome that are beginning to reveal the disorder's pathoetiology. ( J Child Neurol 2005;20:747—753).
The Floppy Infant: Retrospective Analysis of Clinical Experience (1990—2000) in a Tertiary Care Facility
Authors: Birdi Kirandeep , Prasad Asuri N. , Prasad Chitra , Chodirker Bernard , Chudley Albert E.
Published: June 2007

We describe the results of a retrospective study of floppy infants evaluated at the Children's Hospital of Winnipeg, a tertiary care children's facility. Cases were ascertained by a systematic search of clinical databases, hospital and electromyographic records for “floppy” infants age < 1 year, referred over a period of 11 years (1990—2000). Eighty-nine infants, 42 female (47.2%) and 47 male (52.8%), were included in the study. A definitive diagnosis was established in 60 (67.4%) cases, in 24 cases (40%) on purely clinical grounds, whereas in 36 (60%) cases, additional investigations were necessary. Karyotype, molecular diagnostics, cranial imaging, and muscle and skin biopsy provided diagnostic information. Genetic disorders in 18 of 60 (20.2%), congenital or acquired disorders of the central nervous system in 22 of 60 (24.7%), and disorders of the lower motor unit in 9 of 60 (10.1%) contributed to the majority of diagnoses. Eight of 89 (8.9%) infants died in the first year, and 2 of 89 (2.6%) were on home ventilation. Of the 61 infants surviving beyond 12 months, 38 of 61 (62.3%) were found to be globally delayed, and only 30 of 61 (49.2%) achieved independent ambulation at their last clinical evaluation. Systematic evaluation of a floppy infant followed by careful selection of investigations (karyotype, DNA-based diagnostic tests, and cranial imaging) can maximize diagnostic yield. ( J Child Neurol 2005;20:803—808).
Magnetic Resonance Imaging Study of Brain Asymmetries in Dyslexic Patients
Authors: Casanova Manuel F. , Christensen James D. , Giedd Jay , Rumsey Judith M. , Garver David L. , Postel Gregory C.
Published: June 2007

Research studies suggest that the left hemisphere is involved in the pathophysiology of dyslexia. Thus far, the exact location and nature of the purported lesion(s) remain a matter of contention. The present study describes the distribution of structural abnormalities as related to brain symmetry in the brains of dyslexic individuals. High-resolution three-dimensional magnetic resonance images (MRIs) were analyzed in 16 dyslexic men and 14 controls matched for sex, age, educational level, and handedness. A computerized image analysis system was used to assess the volumetric deformations required to match each brain with its left-right mirror image. The results showed significant abnormalities in five left hemisphere structures involving the extrapyramidal and limbic systems: amygdala, hippocampus proper, parahippocampal gyrus, putamen, and globus pallidus. The left hemisphere is thought to play a major role in the temporal analysis of information. This stream of temporal analysis is of importance in motor movements. Reading might have evolved as an exaptation to motor movements requiring the sequential analysis of information. ( J Child Neurol 2005;20:842—847).
Serum Insulin, Leptin, and Neuropeptide Y Levels in Epileptic Children Treated With Valproate
Authors: Aydin Kursad , Serdaroglu Ayse , Okuyaz Cetin , Bideci Aysun , Gucuyener Kivilcim
Published: June 2007

Weight gain is a common side effect of valproate treatment. The potential mechanisms of valproate-associated weight gain are not yet clear. Decreased blood glucose level, impairment of β-oxidation of fatty acids, and increased insulin levels are some of the possible mechanisms. The aim of the present study is to evaluate the role of insulin, leptin, and neuropeptide Y in valproate-related weight gain in epileptic children. In 20 epileptic children treated with valproate before treatment and after a follow-up period of 3 and 6 months, body mass index and fasting insulin glucose ratio were calculated and serum glucose, insulin, cortisol, leptin, and neuropeptide Y levels were measured. At the end of 3 months, the mean body mass index values and the mean serum insulin, fasting insulin glucose ratio, and neuropeptide Y levels increased, whereas the serum glucose levels decreased. After 6 months of treatment, the mean serum cortisol and leptin levels were high, in addition to the body mass index, neuropeptide Y, and fasting insulin glucose ratio. These results suggest that weight gain during valproate treatment might be related to low glucose and high insulin, cortisol, leptin, and neuropeptide Y levels. ( J Child Neurol 2005;20:848—851).
Quantitative Analysis of Cerebral Cortical Atrophy and Correlation With Clinical Severity in Unilateral Sturge-Weber Syndrome
Authors: Kelley Thomas M. , Hatfield Laura A. , Lin Doris D. M. , Comi Anne M.
Published: June 2007

Sturge-Weber syndrome is a neurocutaneous disorder with vascular malformations of the skin, brain, and eye. The objective of this study was to determine whether cortical atrophy in patients with Sturge-Weber syndrome correlates with clinical severity. Eighteen subjects (age 4 months—35 years) with unilateral Sturge-Weber syndrome received a neurologic examination and submitted previous magnetic resonance imaging (MRI) films. A blinded investigator assigned clinical severity scores based on seizures, hemiparesis, visual field cut, and cognitive impairments. Computer-aided analysis of MRIs produced laterality scores for cortical volume asymmetry. A significant relationship existed between clinical severity and laterality scores (Spearman's rho = —0.804; P < .001). Laterality scores also correlated well with hemiparesis subscores and weakly with cognitive impairment subscores (Kendall's tau b; P < .05). Using this simple, computer-aided analysis, cortical volume asymmetry correlated with clinical status. This method offers the advantages of relative simplicity, objectivity, and wide applicability to films from outside institutions, as would be encountered in clinical practice. ( J Child Neurol 2005;20:867—870).
Case of Desmoplastic Infantile Ganglioglioma Secreting Ceruloplasmin
Authors: Knapp John , Olson Lori , Tye Sandra , Bethard Jennifer R. , Welsh Cynthia A. , Rumbolt Zoran , Takacs Istvan , Maria Bernard L.
Published: June 2007

Desmoplastic infantile ganglioglioma is a rare World Health Organization (WHO) grade I tumor commonly arising in early infancy and usually presenting with both solid and cystic components. We report a case of a large midline-enhancing desmoplastic infantile ganglioglioma in which newly formed cysts in communication with lateral ventricles contained highly proteinaceous fluid. Proteomic analysis of the fluid showed three proteins not normally found in cerebrospinal fluid. Immunohistochemical analysis of the tumor sample showed that the desmoplastic infantile ganglioglioma produced a high concentration of ceruloplasmin, which probably accounts for most of the 30- to 40-fold increase in protein compared with normal cerebrospinal fluid. To our knowledge, this is the first report of ceruloplasmin secretion by a brain tumor, and ongoing studies on the mechanism might yield novel approaches to reducing cyst production and protein content in an otherwise stable solid tumor. ( J Child Neurol 2005;20:920—924).
Neuronal Migration Disorders
Authors: Gressens Pierre
Published: June 2007

Improvement in imaging techniques has provided new classifications of neuronal migration disorders and their diagnosis in the developing or adult brain. Control of neuronal migration involves different cell populations, including Cajal-Retzius neurons, subplate neurons, neuronal precursors, or radial glia. The integrity of multiple molecular mechanisms, such as cell-cycle control, cell-cell adhesion, interaction with extracellular matrix protein, neurotransmitter release, growth factor availability, platelet-activating factor degradation, peroxisomal metabolism, or transduction pathways, seems to be critical for normal neuronal migration. The present review focuses on animal models of neuronal migration disorders. ( J Child Neurol 2005;20:968—971).
Reversible Posterior Leukoencephalopathy Syndrome
Authors: Ozyurek Hamit , Oguz Gulben , Ozen Seza , Akyuz Canan , Oguz Kader Karli , Anlar Banu , Aysun Sabiha
Published: June 2007

Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting with generalized seizures and headache. The causes of reversible posterior leukoencephalopathy syndrome were considered to be acute hypertension and immunosuppressive therapy in case 1 with systemic lupus erythematosus, chemotherapy (vincristine and/or actinomycin-D) and hyponatremia in case 2, and acute hypertension in case 3, admitted with a familial Mediterranean fever attack. In light of these cases, we review the literature for the etiology, clinical and laboratory findings, and pathogenetic mechanisms of the disease. ( J Child Neurol 2005;12:990—993).
Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial
Authors: Collins James J. , Tudor Cynthia , Leonard Jennifer M. , Chuck Gail , Franz David Neal
Published: June 2007

Seizures are a common neurologic symptom of tuberous sclerosis complex. The use of levetiracetam as adjunctive antiepileptic therapy was assessed in 20 patients with tuberous sclerosis complex aged 2 to 19 years. In this retrospective evaluation, 40% of patients treated with levetiracetam achieved a seizure reduction of more than 50%. Levetiracetam was generally well tolerated, and adverse events were relatively uncommon in patients who responded to treatment. The most commonly reported adverse events were behavioral problems. Unstable gait, insomnia, poor appetite, and increased seizure frequency were also reported. Based on these results, the use of levetiracetam as adjunctive antiepileptic therapy can reduce seizure frequency in patients with tuberous sclerosis complex. ( J Child Neurol 2006;21:53—57).
Medication-Overuse Headache in Children: Is Initial Preventive Therapy Necessary?
Authors: Kossoff Eric H. , Mankad Dhwani N.
Published: June 2007

Chronic daily headaches can be a difficult problem in children as well as adults. Over half of the cases of chronic daily headaches in adults are thought to be due to medication-overuse headache, and treatment consists of discontinuation of these analgesics. Since many patients are also treated with preventive agents at the time of analgesic withdrawal, it is difficult to determine whether discontinuation alone is the most effective treatment. A retrospective study was performed to evaluate the outcomes of 43 children (ages 6—17 years) with medication-overuse headache 1 month after withdrawal of analgesics: 20 children received daily doses of a preventive medication, and 23 received no preventive medication. Headache reduction was assessed 1 month later. There was no difference in the percentage, with 90% or greater headache reduction at 1 month between children treated by withdrawal of analgesic drugs only and those receiving preventive medications (57% vs 50%, respectively). There was no influence of age, gender, use of triptans as rescue agents, or caffeine use on outcomes. A previous duration of headaches over 2 years was negatively correlated with overall outcome. We advise discontinuation of analgesics in all children with medication-overuse headache, without the necessity for starting daily preventive agents concurrently. Should headaches persist after 1 month, such agents can be added. ( J Child Neurol 2006;21:45—48).
Visual Evoked Potentials in Neonatal Hyperbilirubinemia
Authors: Chen Wen-Xiong , Wong Virginia
Published: June 2007

The management of neonatal hyperbilirubinemia is very standardized. However, there is a lack of an objective method to evaluate the cerebral effects of bilirubin apart from brainstem auditory evoked potentials. There were few studies evaluating the effects of hyperbilirubinemia or phototherapy on the visual pathway in infants with hyperbilirubinemia. Serial visual evoked potentials of two groups of term neonates ( N = 24)—group 1 with moderate hyperbilirubinemia ( n = 16) and group 2 with severe hyperbilirubinemia ( n = 8)—were evaluated prospectively. All infants had regular physical, neurologic, visual, and auditory evaluations until 3 years. Four (16%) had abnormal visual evoked potentials before 1 year, and the abnormalities returned to normal thereafter. There was no significant difference in visual evoked potentials between the two groups. All had normal neurodevelopmental status by 3 years, with the exception of one child from the severe group with ABO incompatibility with transient mild motor delay, hypotonia, and abnormal visual evoked potential. There were no abnormal effects of phototherapy on visual evoked potentials in infants with neonatal hyperbilirubinemia after 1 year of age. Although our sample size was small, the results suggest that the effects of hyperbilirubinemia on visual evoked potentials might be transient. ( J Child Neurol 2006;21:58—62).
Parenting Stress and Its Relationship to the Behavior of Children with Joubert Syndrome
Authors: Farmer Janet E. , Deidrick Kathleen M. , Gitten Jill C. , Fennell Eileen B. , Maria Bernard L.
Published: June 2007

This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelopmental disorder. Parents ( N = 43) reported severely impaired child adaptive behaviors. Most children did not show maladaptive behaviors, but a subset of approximately 20% displayed significant problems in areas such as inattention, overactivity, social withdrawal, and atypical behaviors. Mothers (59%) and fathers (40%) reported elevated levels of parenting stress. A hierarchical regression, including demographics, adaptive behavior, and maladaptive behavior, predicted 67% of the variance in mothers' stress and 40% of the variance in fathers' stress. Maladaptive behaviors uniquely contributed to maternal and paternal stress. The child's adaptive behavior level contributed significantly to parenting stress for mothers but not for fathers. Findings provide a better understanding of the impact of child behavior on parents car-ing for a child with Joubert syndrome. ( J Child Neurol 2006;21:163—167; DOI 10.2310/7010.2006.00019).
Impaired Motor Control in Patients With Benign Focal Epilepsy of Childhood
Authors: Maalouf Marwan , Takahashi Craig D. , Reinkensmeyer David J. , Cooper Dan M. , Rho Jong M.
Published: June 2007

Upper extremity motor function was quantitatively assessed in 6 children (age 7—11 years) treated with antiepileptic drugs for benign focal epilepsies of childhood and compared with that of 30 age-matched normal children. Both motor performance and adaptation to perturbing mechanical constraints imposed by a robotic device were significantly impaired in children with benign focal epilepsies of childhood. Our findings thus question whether certain “benign” epilepsies are truly benign and whether pharmacologic treatment might contribute to motor impairment. ( J Child Neurol 2006;21:157—160; DOI 10.2310/7010.2006.00023).
Sturge-Weber Syndrome Variant With Atypical Intracranial Findings
Authors: Yallapragada Anil V. , Cure Joel K. , Holden Kenton R.
Published: June 2007

Sturge-Weber syndrome is characterized by a facial port-wine nevus, leptomeningeal angiomatosis, and glaucoma; it is commonly complicated by epilepsy and hemiparesis. We present a patient with a head and neck port-wine nevus, glaucoma, abnormalities of the intracranial deep veins, and untreated communicating hydrocephalus. The patient lacks any radiologic or clinical evidence of cerebral leptomeningeal angiomatosis. Considering that intracranial venous anomalies also are likely compatible with the embryologic explanation of Sturge-Weber syndrome, this child can serve as an unusual example of Sturge-Weber syndrome type II. ( J Child Neurol 2006;21:155—157; DOI 10.2310/7010.2006.00026).
Infantile Spasms as an Adverse Outcome of Neonatal Cortical Sinovenous Thrombosis
Authors: Soman Teesta B. , Moharir Mahendranath , deVeber Gabrielle , Weiss Shelly
Published: June 2007

Cerebral sinovenous thrombosis is a rare but potentially serious condition often occurring in children with nonspecific presenting features. Much remains to be learned about the long-term outcome of infants with cerebral sinovenous thrombosis. We report a series of four patients taken from a prospective database of neonates with sinovenous thrombosis who subsequently developed infantile spasms, three with hypsarrythmia on electroencephalography and one with multiple independent spike foci. The first patient presented at 2 weeks of age with hypernatremia, dehydration, and seizures. He was found to have extensive thrombosis and hemorrhagic infarction of the right basal ganglia. The second patient presented at 5 weeks of life and was found to have sagittal sinus thrombosis with bilateral intracranial hemorrhage. The third patient presented with seizures on day 1 of life and was found to have venous thrombosis involving the torcular, extending into the sagittal sinus. The fourth patient presented at 3 weeks with lethargy and seizures. He was diagnosed with bacterial meningitis and also had extensive sinus thrombosis. All patients developed infantile spasms at ages 9, 7, 11, and 10 months, respectively. This is the first report in the English literature describing infantile spasms as a possible outcome of sinovenous thrombosis in early infancy. ( J Child Neurol 2006;21:126—131; DOI 10.2310/7010.2006.00028).
Central Core Disease: Atypical Case With Respiratory Insufficiency in an Intensive Care Unit
Authors: Polat Muzaffer , Tosun Ayse , Ay Yilmaz , Ozer Erdener , Serdaroglu Gul , Aydogdu Sema , Gokben Sarenur , Tekgul Hasan
Published: June 2007

Central core disease is a rare congential myopathy characterized by formation of typical cores in myofibrils. We report an atypical case of central core disease with respiratory insufficiency in the late stage of congenital myopathy. A 13-year-old girl was admitted to the intensive care unit with the diagnosis of respiratory distress syndrome. Ventilatory support was initiated. After 2 weeks of follow-up, the Division of Pediatric Neurology was consulted owing to the failure to wean her from the ventilator. Clinical and electromyographic features were in favor of primary muscle disease. Muscle biopsy revealed typical cores in type 1 muscle fibers, which were diagnostic for central core disease. This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation. ( J Child Neurol 2006;21:173—174; DOI 10.2310/7010.2006.00031).
Congenital Indifference to Pain and Deletion of Chromosome 10q—: New Association
Authors: Joshi Charuta , Dawson Angelika J. , Sanders Shannon R. , Prasad Chitra
Published: June 2007

We describe a case of a de novo terminal deletion of the long arm of chromosome 10 with the novel feature of congenital indifference to pain in a 2-year 10-month-old boy. Relative indifference to pain defined by a lack of emotional response to pain has not been described previously in association with the terminal deletion of the long arm of chromosome 10. ( J Child Neurol 2006;21:174—177; DOI 10.2310/7010.2006.00045).
Intractable Intracranial Tuberculous Infection Responsive to Thalidomide: Report of Four Cases
Authors: Schoeman Johan F. , Fieggen Graham , Seller Neil , Mendelson Marc , Hartzenberg Bennie
Published: June 2007

Paradoxical enlargement and development of new intracranial tuberculomas and tuberculous brain abscesses on adequate antituberculosis treatment are well recognized and supposedly cytokine mediated. These lesions are often unresponsive to conventional antituberculosis treatment, corticosteroids, and surgery. We therefore assessed the effect of adjunctive thalidomide, a tumor necrosis factor α—modulating drug, in intractable intracranial tuberculosis that did not respond to standard medical and surgical therapy. Four consecutive children (three children with bacteriologic proof and one child with clinical evidence of intracranial tuberculosis) were studied. Three patients each had a giant tuberculous abscess, and the fourth had chronic basal arachnoiditis with progressive loss of vision. Three of the four patients had relentless neurologic deterioration, and all showed disease progression on neuroimaging despite full medical and appropriate surgical treatment. Marked clinical and neuroradiologic improvement occurred after thalidomide was added to the antituberculosis treatment regimen of these four patients. Adjunctive thalidomide might have a role in the management of intractable intracranial tuberculosis and needs further investigation in this regard. ( J Child Neurol 2 0 0 6; 2 1: 3 0 1 — 3 0 8; DOI 10.2310/7010.2006.00071).
Can Asperger Syndrome Be Diagnosed at 26 Months Old? A Genetic High-Risk Single-Case Study
Authors: Baron-Cohen Simon , Scott Fiona , Wheelwright Sally , Johnson Mark , Bisarya Dheraj , Desai Atman , Ahluwalia Jag
Published: June 2007

Asperger syndrome, a heritable condition entailing empathy deficits together with unusually narrow interests in individuals of normal or even above-average intelligence, was recognized only recently. Here we report the first-ever prospective study of a child born to two adults with a formal diagnosis of Asperger syndrome. The child's parents are both scientists (a mathematician and a chemist). The aim of study 1 was to test if the child also developed Asperger syndrome, given the heritability of the condition, and if Asperger syndrome can be detected at 26 months. At 18 months, the child was given the Checklist for Autism in Toddlers, and at 26 months, she was assessed diagnostically for autism spectrum conditions using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observational Scale. The child failed the Checklist for Autism in Toddlers at 18 months and met the criteria for Asperger syndrome at 26 months. This single case is consistent with the hypersystemizing, assortative mating theory of autism. This theory requires further testing with large samples. This study also demonstrates that Asperger syndrome can be diagnosed by age 26 months. The aim of study 2 was to test if dyadic eye contact in infancy is intact in a child later diagnosed with Asperger syndrome. The same child's eye contact was measured at three time points (3, 6, and 9 months) over her first year of life and compared with that of age-matched controls. Although the child had low rates of eye contact at 6 months, it was within the normal range at all three points in the first year of life. We conclude that low levels of eye contact are not predictive of later development of Asperger syndrome. ( J Child Neurol 2006; 21: 351—356; DOI 10.2310/7010.2006.00072).
Ontogeny and Physiology of the Cavum Septum Pellucidum in Premature Infants
Authors: Needelman Howard , Schroeder Bruce , Sweney Matthew , Schmidt John , Bodensteiner John B. , Schaefer Bradley
Published: June 2007

We report the natural history of the closure of the cavum septum pellucidum in 47 premature infants. In this study, a cavum septum pellucidum was present in all patients at 25 to 26 weeks' postconceptual age, in keeping with previous reports. The data from this study suggest that premature delivery does not change the natural history of the normal closure of the cavum septum pellucidum in most infants by 36 to 40 weeks' postconceptual age. Although not statistically significant, there is a suggestion from these data that higher grades of intraventricular hemorrhage are more frequently associated with loss (early closure) of the cavum septum pellucidum. One particularly illustrative case with a grade 4 intraventricular hemorrhage and subsequent hydrocephalus suggests that increases in pressure and volume in the lateral ventricles can cause the laminae of the septum pellucidum to approximate and appear to fuse earlier than expected. However, the fact that the cavum septum pellucidum reappeared in this case after ventricular pressure was decreased (postventricular shunt) suggests that approximation is not the sole factor in definitive fusion of the laminae of the septum pellucidum. ( J Child Neurol 2006;21:298—300; DOI 10.2310/7010.2006.00081).
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis
Authors: Dodds Jodi A. , Srivastava Anand K. , Holden Kenton R.
Published: June 2007

X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C →T substitution in exon 4 of the XLRS1 gene, resulting in an Arg102Trp amino acid substitution. Two of the four available clinical cases in this family were found to carry the mutation. All available mothers of affected males were found to be unaffected carriers of the mutation, a typical feature of X-linked diseases. Two new female carriers, sisters of affected males, were identified and counseled accordingly. Questionnaires on visual functioning were given to the affected family members to examine the psychologic and sociologic impact of X-linked juvenile retinoschisis, which documented an associated stigma even when affected with a “mild” phenotype. ( J Child Neurol 2006;21:331—333; DOI 10.2310/7010.2006.00085).
Acquired Alexia With Agraphia Syndrome in Childhood
Authors: Paquier Philippe F. , De Smet Hyo Jung , Mariën Peter , Poznanski Nathalie , Van Bogaert Patrick
Published: June 2007

The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are generally reported as part of more encompassing aphasic syndromes affecting oral and written language equally, for example, Broca or Wernicke aphasia. Documented instances of predominant acquired reading and writing disorders in childhood are exceptional. We report an 11-year-old, right-handed boy who sustained a left temporoparieto-occipital hematoma following rupture of an arteriovenous malformation and who consecutively presented with the acquired alexia with agraphia syndrome associated with word-finding difficulties. Neuropsychologic and neurolinguistic data showed that there was no concomitant Gerstmann and/or angular gyrus syndrome. The recovery from the anomia was quite favorable, but recovery of written language was more protracted and acted on the patient's further scholastic achievement. This case is reminiscent of a historical childhood case reported in 1939 and is consonant with adult cases in terms of lesion location and semiologic picture. ( J Child Neurol 2006;21:324—330; DOI 10.2310/7010.2006.00087).
Topical Review: Role of Instrumented Fetal Sheep Preparations in Defining the Pathogenesis of Human Periventricular White-Matter Injury
Authors: Back Stephen A. , Riddle Art , Hohimer A. Roger
Published: June 2007

Periventricular white-matter injury is the major form of brain injury associated with prematurity and the leading cause of cerebral palsy in survivors of premature birth. Progress in understanding the pathogenesis of periventricular white-matter injury requires the development of animal models that are relevant to the unique physiology of the preterm human brain and that replicate the major neuropathologic features of human injury. The sheep is the most extensively studied true fetal preparation. The neurodevelopment of the preterm sheep fetus (0.65 gestation) is comparable to that of the preterm human between approximately 24 and 28 weeks. The size of the fetal sheep permits chronic instrumentation so that well-defined insults can be studied with reliable measurements of blood flow and metabolism in cerebral white-matter. We review here recent developments in the understanding of the role of cerebral hypoxia-ischemia and vulnerable oligodendrocyte progenitors in the pathogenesis of periventricular white-matter injury in the immature sheep fetus. We focus on recent developments in high-resolution spatially defined cerebral blood flow measurements in utero. We determined ovine white-matter maturation between 90 and 120 days' gestation, as defined by immunohistochemical localization of oligodendrocyte lineage-specific antibodies. There was considerable spatial and temporal heterogeneity in oligodendrocyte maturation in the immature periventricular white-matter. Oligodendrocyte maturation in the 90- to 105-day fetal sheep closely coincided with that of the preterm human during the high-risk period for white-matter injury. Hence, the immature state of the 90- to 105-day fetal periventricular white-matter is an optimal and dynamic developmental window to study the role of cellular-maturational factors in the pathogenesis of white-matter injury. We conclude with a review of the significant advantages of the instrumented fetal sheep to accelerate progress in the translation of preventive therapies for periventricular white-matter injury and cerebral palsy. (J Child Neurol 2006;21:582—589; DOI 10.2310/7010.2006.00079).
Mobile Medical Computing Driven by the Complexity of Neurologic Diagnosis
Authors: Segal Michael M.
Published: June 2007

Medical computing has been split between palm-sized computers optimized for mobility and desktop computers optimized for capability. This split was due to technology too immature to deliver both mobility and capability in the same computer and the lack of medical software that demanded both mobility and capability. Advances in hardware and software are ushering in an era in which fully capable computers will be available ubiquitously. As a result, medical practice, education and publishing will change. Medical practice will be improved by the use of software that not only assists with diagnosis but can do so at the bedside, where the doctor can act immediately upon suggestions such as useful findings to check. Medical education will shift away from a focus on details of unusual diseases and toward a focus on skills of physical examination and using computerized tools. Medical publishing, in contrast, will shift toward greater detail: it will be increasingly important to quantitate the frequency of findings in diseases and their time course since such information can have a major impact clinically when added to decision support software. (J Child Neurol 2006;21:595—599; DOI 10.2310/7010.2006.00155).
Randomized Trial of Parent Management Training in Children With Tic Disorders and Disruptive Behavior
Authors: Scahill Lawrence , Sukhodolsky Denis G. , Bearss Karen , Findley Diane , Hamrin Vanya , Carroll Deirdre H. , Rains Adrienne L.
Published: June 2007

Oppositional, defiant, and disruptive behaviors are common in clinical samples of children with tic disorders. In this study, we sought to evaluate the short-term efficacy of a structured parent training program in children with tic disorders accompanied by disruptive behavior. Children with tic disorders and at least a moderate level of disruptive behavior were randomly assigned to a 10-session structured parent management training program or to continue treatment as usual. Twenty-four children (18 boys and 6 girls) between the ages of 6 and 12 years (mean 8.9 ± 2.0 years) were enrolled; 23 subjects completed the study. At baseline, subjects showed moderate to severe levels of oppositional and defiant behavior. Twenty subjects (83%) were on stable medication. The parent-rated Disruptive Behavior Rating Scale score decreased by 51% in the parent management training group compared with a decrease of 19% in the treatment as usual group (P < .05). On the Improvement scale of the Clinical Global Impression, a rater masked to treatment assignment classified 7 of 11 subjects who completed parent management training as much improved or very much improved compared with 2 of 12 subjects in the treatment as usual group (Fisher exact test, P < .05). These results suggest that parent management training is helpful for short-term improvement in disruptive behavior problems in children with tic disorders. Larger randomized clinical trials are needed. (J Child Neurol 2006;21:650—656; DOI 10.2310/ 7010.2006.00159).
Novel Surgical Therapies for Tourette Syndrome
Authors: Neimat Joseph S. , Patil Parag G. , Lozano Andres M.
Published: June 2007

Tourette syndrome is a common neurologic disorder with close ties to obsessive-compulsive disorder and attention-deficit hyperactivity disorder (ADHD). The majority of patients improve spontaneously as they near adulthood. Most others are effectively treated with pharmacologic agents, although these therapies fail for an unfortunate few. For patients debilitated by the disease despite medical therapy, surgery can become an important option. (J Child Neurol 2006;21:715—718; DOI 10.2310/7010.2006.00160).
Neuroimaging of Tourette Syndrome
Authors: Frey Kirk A. , Albin Roger L.
Published: June 2007

Traditional neuropathologic methods have provided only limited insight into the central nervous system abnormalities underlying Tourette syndrome. In the past 20 years, investigators have turned increasingly to in vivo neuroimaging approaches to localize, quantify, and characterize neuroanatomic, functional, and neurochemical distinctions in living subjects with Tourette syndrome. Research methods have included aggregate measures of cerebral energy metabolism, assessments of cerebral structure and size, and highly specific assessments of neurochemical markers of select neurons and synapses. Although the available data have important limitations, an encouraging convergence of findings implicates abnormal function in the Tourette syndrome striatum and in associated limbic and frontal cortical systems. (J Child Neurol 2006;21:672—677; DOI 10.2310/7010.2006.00162).
Tourette Syndrome: Diagnosis, Strategies, Therapies, Pathogenesis, and Future Research Directions
Authors: Olson Lori L. , Singer Harvey S. , Goodman Wayne K. , Maria Bernard L.
Published: June 2007

Tourette syndrome is a neuropsychiatric condition characterized by multiple motor tics and at least one vocal tic that persist for more than 1 year. On September 28, 2005, a symposium was held to (1) describe current diagnostic strategies, (2) discuss recent thoughts on pathogenesis, (3) review current therapies and clinical trials, and (4) define future research directions in Tourette syndrome. In her opening remarks, Dr Story Landis, director of the National Institute of Neurological Disorders and Stroke, emphasized the influence that this conference series has not only on the advancement of research but also on the education of practicing clinicians. Dr Landis also discussed the role of the Institute and the crucial function of volunteer research organizations in funding research to further improve the management of this condition. This article summarizes the presentations and includes the verbatim edited transcript of question and answer sessions. (J Child Neurol 2006;21:630—641; DOI 10.2310/7010.2006.00163).
Tourette Syndrome: The Self Under Siege
Authors: Leckman James F. , Bloch Michael H. , Scahill Lawrence , King Robert A.
Published: June 2007

Tourette syndrome is a neurodevelopmental disorder characterized by motor and vocal tics—rapid, repetitive, stereotyped movements or vocalizations. Tourette syndrome typically has a prepubertal onset, and boys are more commonly affected than girls. Symptoms usually begin with transient bouts of simple motor tics. By age 10 years, most children are aware of nearly irresistible somatosensory urges that precede the tics. These urges likely reflect a defect in sensorimotor gating because they intrude into the child's conscious awareness and become a source of distraction and distress. A momentary sense of relief typically follows the completion of a tic. Over the course of hours, tics occur in bouts, with a regular intertic interval. Tics increase during periods of emotional excitement and fatigue. Tics can become ``complex'' in nature and appear to be purposeful. Tics can be willfully suppressed for brief intervals and can be evoked by the mere mention of them. Tics typically diminish during periods of goal-directed behavior, especially those that involve both heightened attention and fine motor or vocal control, as occur in musical and athletic performances. Over the course of months, tics wax and wane. New tics appear, often in response to new sources of somatosensory irritation, such as the appearance of a persistent vocal tic (a cough) following a cold. Over the course of years, tic severity typically peaks between 8 and 12 years of age. By the end of the second decade of life, many individuals are virtually tic free. Less than 20% of cases continue to experience clinically impairing tics as adults. Tics rarely occur in isolation, and other coexisting conditions—such as behavioral disinhibition, hypersensitivity to a broad range of sensory stimuli, problems with visual motor integration, procedural learning difficulties, attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depression, anxiety, and emotional instability—are often a greater source of impairment than the tics themselves. Emerging behavioral treatments of Tourette syndrome are based in part on an understanding of the moment-to-moment experience of somatosensory urges and motor response. With identification of specific genes of major effect and advances in our understanding of the neural circuitry of sensorimotor gating, habit formation, and procedural memory—together with insights from postmortem brain studies, in vivo brain imaging, and electrophysiologic recordings—we might be on the threshold of a deeper understanding of the phenomenology and natural history of Tourette syndrome. (J Child Neurol 2006;21:642—649; DOI 10.2310/7010.2006.00167).
Vulnerability of the Anterior Commissure in Moderate to Severe Pediatric Traumatic Brain Injury
Authors: Wilde Elisabeth A. , Bigler Erin D. , Haider Janelle M. , Zili Chu  , Levin Harvey S. , Xiaoqi Li  , Hunter Jill V.
Published: June 2007

In relation to the adult brain, the immature brain might be more vulnerable to damage during and following traumatic brain injury, particularly in white-matter tracts. Given well-established evidence of corpus callosum atrophy, we hypothesized that anterior commissure volume (using quantitative magnetic resonance imaging [MRI]) in this structure would be decreased in children with moderate to severe traumatic brain injury relative to typically developing children. Second, given the purported role of the anterior commissure in interhemispheric axon conveyance between temporal lobes, we hypothesized that temporal lobe white matter, temporal lesion volume, and injury severity (Glasgow Coma Scale score) would be predictive of decreased anterior commissure cross-sectional volume in patients with traumatic brain injury. Finally, we wished to establish the relationship between the anterior commissure and the temporal stem, a major white-matter tract into the temporal lobes, using diffusion tensor imaging fiber-tracking maps for each patient. We also hypothesized that children with traumatic brain injury would exhibit decreased fractional anisotropy in relation to typically developing children in a fiber system including the anterior commissure and the temporal lobes. Decreased anterior commissure cross-sectional volume was observed in patients with traumatic brain injury, and, as predicted, anterior commissure and temporal white-matter volumes were positively related to each other and to higher Glasgow Coma Scale scores. Lesion volume was not independently predictive of anterior commissure volume in the overall model. Diffusion tensor imaging fractional anisotropy values differed between the groups for the temporal stem—anterior commissure system, with the traumatic brain injury group exhibiting decreased fractional anisotropy. The anterior commissure, like the corpus callosum, appears to be highly vulnerable to white-matter degenerative changes resulting from mechanisms such as the direct impact of trauma, progressive axonal injury as tissue in other brain regions atrophies, or myelin degeneration. This is the first systematic examination of anterior commissure atrophy following traumatic brain injury using in vivo quantitative MRI and diffusion tensor imaging fiber tracking in pediatric subjects. (J Child Neurol 2006;21:769—776; DOI 10.2310/7010.2006.00152).