bluuebunny/crossref_metadata_2025 huggingface dataset:
Factors Predictive of Outcome in Childhood Epilepsy
Authors: Oskoui Maryam , Webster Richard I. , Xun Zhang  , Shevell Michael I.
Published: June 2007

To identify early predictive factors of outcome in childhood epilepsy, the case records of all children with new-onset epilepsy presenting to a single neurology practice over a 10-year interval were reviewed. Only children with more than 2 years of follow-up were included. Cox regression analysis was used to identify factors predictive of remission (successful cessation of medication). One hundred ninety-six children (mean age 7.6 ± 3.7 years at first seizure, mean follow-up 55 ± 30 months) were identified. Ninety-eight of 196 children (50%) had an idiopathic epilepsy, 63 of 196 (32.1%) had cryptogenic epilepsy, and 35 of 196 (17.9%) had remote symptomatic epilepsy. At final assessment, 52.6% were in remission, 12.8% had a poor outcome (recurrent seizures on therapeutic antiepileptic drug levels within 6 months prior to the final assessment), and 6.9% were intractable (more than one seizure/month over 1 year with failure of three or more anticonvulsants). One year after initiating treatment, factors associated with a lower probability of remisson included seizure recurrence in the 6- to 12-month interval after therapy initiation (hazard ratio 0.24), multiple seizure types (hazard ratio 0.40), and mental retardation at onset (hazard ratio 0.19). Factors predictive of a poor outcome included seizure recurrence in the 6- to 12-month interval after therapy initiation (odds ratio 21.6), more than one seizure type (odds ratio 8.9), and global developmental delay at onset (odds ratio 8.9). Factors predictive of intractability included multiple seizure types (hazard ratio 6.5), mental retardation at onset (hazard ratio 7.2), and seizure recurrence in the first 6 to 12 months of treatment (hazard ratio 70). It appears that response in the first 6 to 12 months on antiepileptic medication is predictive of outcome. Clinical features of the underlying epilepsy and concurrent neurologic conditions were independently associated with intractability and a lower probability of remission. ( J Child Neurol 2005;20:898—904).
Where Do Families of Children With Epilepsy Obtain Their Information?
Authors: Lu Cathy , Wirrell Elaine , Blackman Marlene
Published: June 2007

A structured interview of 84 families of children with epilepsy followed through the neurology clinic of a tertiary care children's hospital was conducted to assess the epilepsy-specific information sources accessed and the perceived accuracy of these sources. Families accessed a mean of 3.5 sources from or specifically recommended by the clinic or family doctor and 4.1 sources outside these areas. Families of children with intractable epilepsy and higher-educated parents, but not those of higher socioeconomic status, consulted more extensively. The perceived accuracy of information rated highest for clinic-recommended Internet sites (100%), the clinic nurse (97%), and the neurologist (93%). Sources external to the clinic had variable ratings; those with the greatest perceived accuracy included other Internet sites or family members within the medical profession (85% for both) and lay organizations (84%). Friends within the medical profession, other families, and complementary health care providers also ranked highly. Recommendation of sites and books by epilepsy clinics is more helpful than general handouts. ( J Child Neurol 2005;20:905—910).
Neuroradiologic Findings in a Young Patient With Characteristics of Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome
Authors: Verhelst Helene , Van Coster Rudy
Published: June 2007

The patient presented here has extensive hemangiomata plana, especially on the right forehead, right upper eyelid, and right leg, as well as right leg hypertrophy and macrocephaly. Cerebral magnetic resonance imaging (MRI) showed abnormalities in only one occipital lobe consisting of focal cortical atrophy, leptomeningeal enhancement, and ipsilateral choroid plexus enlargement. Mental and motor development is normal, and he has no seizures. The parents are consanguineous. Leg hypertrophy associated with ipsilateral cutaneous vascular malformations is suggestive of Klippel-Trenaunay syndrome. The patient's central nervous system abnormalities on MRI and the hemangiomata plana on the ipsilateral upper eyelid and forehead point to Sturge-Weber syndrome. We conclude that the patient has an overlap syndrome between Klippel-Trenaunay syndrome and Sturge-Weber syndrome. ( J Child Neurol 2005;20:911—913).
Cerebellar Pilocytic Astrocytoma With Auditory Presentation
Authors: Berg Abbey L. , Olson Ty J. , Feldstein Neil A.
Published: June 2007

An 8-year-old girl complained of decreased hearing and difficulty hearing from her right ear while on the telephone. Pure-tone and speech audiometry, immittance (tympanometry, acoustic reflex thresholds), auditory brainstem response, and transient click-evoked otoacoustic emissions were administered. The results were suggestive of a space-occupying lesion, and the patient was referred to a pediatric neurologist and neurosurgeon. A cerebellar pilocytic astrocytoma was found. The patient's audiologic profile is described, along with implications for pediatric neurologic evaluations. ( J Child Neurol 2005;20:914—915).
Neuroimaging in Cerebral Palsy: Patterns of Brain Dysgenesis and Injury
Authors: Hoon Alexander H.
Published: June 2007

Despite advances in obstetric and neonatal care, the overall prevalence of cerebral palsy has remained stable, supporting the belief that pathogenesis is primarily due to prenatal brain dysgenesis and injury. Neuroimaging studies have consistently shown abnormalities in 70% to 90% of affected children, facilitating clinical classification into groups with early brain malformations, white-matter injury, neonatal encephalopathies, and a heterogeneous group of postnatally acquired disorders. White-matter injury, well seen on conventional magnetic resonance imaging (MRI), is the leading cause of cerebral palsy in children born preterm. As many as 20% of very low birthweight infants have cystic and/or diffuse white-matter injury, termed periventricular leukomalacia, with evidence of associated pathology in other cortical and subcortical structures. In the group with acute, term perinatal pathology, a variety of imaging modalities, in addition to MRI, have diagnostic utility. In general, when added to conventional MRI, advanced techniques, such as diffusion tensor imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy, provide a more complete picture of structural and functional brain abnormalities. The results have led to improved understanding of pathogenesis, especially in regard to periventricular leukomalacia and hypoxic-ischemic encephalopathy. This information might lead to interventions preventing brain injury in preterm infants and asphyxiated term newborns. ( J Child Neurol 2005;12:936—939).
Role of Glutamate Receptors in Periventricular Leukomalacia
Authors: Jensen Frances E.
Published: June 2007

Periventricular leukomalacia is a form of white-matter injury that occurs in the setting of either primary or secondary hypoxia-ischemia in the premature infant. Hypoxia-ischemia induces increases in cerebral extracellular glutamate levels, thereby activating glutamate receptors on a variety of cell types within the white matter. This review examines the evidence of a role for glutamate receptors in white-matter injury and periventricular leukomalacia. Multiple glutamate receptor subtypes exist, and these appear to play differential roles depending on cell type and time after injury. Glutamate receptors are developmentally regulated on neurons and glia, and certain subtypes are transiently overexpressed in developing rodent brain and are expressed on immature oligodendrocytes in human white matter in the premature period. Pharmacologic agents acting on glutamate receptors might represent age-specific therapeutic strategies for the treatment of periventricular leukomalacia. ( J Child Neurol 2005;20:950—958).
Maturational Effects of Lipopolysaccharide on White-Matter Injury in Fetal Sheep
Authors: Svedin Pernilla , Kjellmer Ingmar , Welin Anna-Karin , Blad Sofia , Mallard Carina
Published: June 2007

White-matter damage has been associated with the development of cerebral palsy in children born both prematurely and at term, and it has been suggested that intrauterine infection can contribute to the brain injury. However, the relative importance of age on white-matter injury following infectious exposure in utero remains unclear. In this study, fetal sheep were exposed to systemic endotoxemia by administration of Escherichia coli lipopolysaccharide (88.7 ± 7.7 ng/kg) at 65% or 85% of gestation. These gestational ages approximately correspond to human brain development in preterm and near-term infants respectively. White-matter injury was evaluated 3 days after lipopolysaccharide exposure with regard to microglia activation and loss of neurofilament and myelin basic protein. The expression of oligodendrocytes at different maturational stages was demonstrated in preterm and near-term fetuses with the oligodendroglial markers O4 and 2',3'-cyclic nucleotide 3'-phospodiesterase. Forty percent of the fetuses in the preterm group and 22% in the near-term group died within 8 hours of the endotoxin exposure. Three of six preterm and two of seven near-term surviving fetuses demonstrated pathologic changes in the brain with regard to increased microglia activation and loss of neurofilament staining. The number of activated microglia was enhanced in the subcortical white matter in both the preterm lipopolysaccharide-exposed fetuses (lipopolysaccharide: 235 ± 64 cells/mm 2; control: 72 ± 28 cells/mm2; P = .0374) and the near-term fetuses (lipopolysaccharide: 180 ± 40 cells/mm2; control 23 ± 16 cells/mm2; P = .0152). There was a loss of neurofilament staining in both preterm fetuses (lipopolysaccharide: 2.20 ± 0.77 pixel units; control: 0.20 ± 0.10 pixel units; P = .0306) and near-term fetuses (lipopolysaccharide: 1.15 ± 0.48 pixel units; control: 0.06 ± 0.06 pixel units; P = .0285). O4-positive cells were detected at both gestational ages, whereas 2,3-cyclic nucleotide 3-phospodiesterase-positive cells and myelin basic protein staining were mainly detected in the near-term fetuses. In summary, we found white-matter injury in a proportion of both preterm and near-term fetuses after administration of lipopolysaccharide. These results are in agreement with clinical evidence suggesting that both preterm and term infants are at risk of periventricular leukomalacia in association with intrauterine infection. ( J Child Neurol 2005;20:960—964).
Model of Cerebral Palsy in the Perinatal Rabbit
Authors: Tan Sidhartha , Drobyshevsky Alexander , Jilling Tamas , Xinhai Ji  , Ullman Lauren M. , Englof Ila , Derrick Matthew
Published: June 2007

Perinatal brain injury results in one of the highest burdens of disease in view of the lifelong consequences and is of enormous cost to society. This makes it imperative to develop better animal models that mimic the human condition. Many neurodevelopmental deficits, such as cerebral palsy, are believed to be a result of prenatal hypoxia-ischemia in humans. Fetal global hypoxia-ischemia is most commonly a consequence of acute placental insufficiency. Our laboratory has modeled in utero sustained and repetitive hypoxia-ischemia in the pregnant rabbit to mimic the insults of abruptio placenta and labor, respectively. Sustained hypoxia-ischemia at 70% (22 days' gestation) and 79% (25 days' gestation) and repetitive hypoxia-ischemia at 90% gestation (28 days' gestation) caused stillbirths and multiple deficits in the postnatal survivors. The deficits included impairment in multiple tests of spontaneous locomotion, reflex motor activity, motor responses to olfactory stimuli, and the coordination of suck and swallow. Hypertonia was observed in the 22 and 25 days' gestation survivors but not in the 28 days' gestation group. Hypertonic survivors were artificially fed and found to have the motor deficits persist for at least 11 postnatal days. A spectrum of brain abnormalities is found on magnetic resonance imaging. This is the first animal model to mimic cerebral palsy. The findings also suggest a window of vulnerability during brain development when the injury results in hypertonia in newborn pups. ( J Child Neurol 2005;20:972—979).
Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex
Authors: Jóźwiak Sergiusz , Domańska-Pakieła Dorota , Kwiatkowski David J. , Kotulska Katarzyna
Published: June 2007

We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies identified the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2). Both general and neurodevelopment of the patient have been normal. When last examined at age 6 years, he had no skin manifestations of tuberous sclerosis complex. Computed tomography of the brain revealed two periventricular calcifications consistent with the molecular diagnosis. This is the first report of molecularly confirmed tuberous sclerosis complex in a child with multiple cardiac rhabdomyomas and no other clinical manifestations of the disease. We propose that all cases of multiple cardiac rhabdomyomas in an infant be given a tentative diagnosis of tuberous sclerosis complex. ( J Child Neurol 2005;20:988—989).
Topical Review: Encephalopathy Associated With Hashimoto Thyroiditis: Pediatric Perspective
Authors: Watemberg Nathan , Greenstein Dalia , Levine Arie
Published: June 2007

In recent years, neuropsychiatric symptoms associated with Hashimoto thyroiditis have been increasingly recognized in both adult and pediatric patients. This neurologic complication has been termed “Hashimoto encephalopathy,” and it can begin abruptly, in the form of seizures or agitation, with or without other neurologic complaints, or it can develop gradually, in a relapsing-remiting manner, including, among others, cognitive deterioration and psychiatric illness. The occurrence of Hashimoto encephalopathy is unrelated to the patient's thyroid function status. Although the pathogenesis of this encephalopathy is not fully understood, evidence for both autoimmune and vasculitic mechanisms exists. Owing to a low index of suspicion, this encephalopathy is very likely underdiagnosed in children. The diagnosis of Hashimoto encephalopathy is based on detecting antithyroid antibodies in these patients, although there is no correlation between antibody levels and the severity of the illness. Cerebrospinal fluid analysis, electroencephalography, and neuroimaging studies do not show consistent findings to support the diagnosis. Physicians' awareness of this complication is of great importance because most patients respond dramatically to corticosteroid therapy. Moreover, early recognition might also avoid an expensive diagnostic work-up in patients with unexplained encephalopathy ( J Child Neurol 2006;21:1—5).
Moyamoya Syndrome in a Splenectomized Patient With β-Thalassemia Intermedia
Authors: Sanefuji Masafumi , Ohga Shouichi , Kira Ryutaro , Yoshiura Takashi
Published: June 2007

We describe a 14-year-old Japanese girl with β-thalassemia intermedia who developed moyamoya syndrome after splenectomy. This patient had compound heterozygous mutations of the β-globin gene and received occasional transfusions. After splenectomy at 12 years of age, she transiently required partial exchange transfusions for leukoerythroblastosis but attained transfusion independence. Two years after the splenectomy, transient ischemic attacks occurred repeatedly with right hemiparesis or left paresthesia. Magnetic resonance imaging revealed bilateral stenosis of the internal carotid arteries and dilatation of the perforating branches with the formation of moyamoya vessels but not infarctions. The strict adherence to aspirin and dipyridamole has led to no stroke or progression of the vasculopathy for 8 years. Moyamoya disease has been reported in a patient with β-thalassemia major. Cerebral vasculopathy can be a rare but grave consequence of the thromboembolic complications in β-thalassemia major/intermedia. ( J Child Neurol 2006;21:75—77).
A Boy With Muscle Weakness, Hypercarbia, and the Mitochondrial DNA A3243G Mutation
Authors: Saneto Russell P. , Bouldin Anthony
Published: June 2007

The point mutation in the mitochondrial genome tRNALeu (A3243G) is associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). We report a boy presenting with respiratory compromise and hypercarbia owing to severe muscle weakness. Historically, he demonstrated idiopathic growth hormone deficiency, retarded bone age, and exercise avoidance. Owing to severe respiratory compromise out of proportion to expected recovery, a metabolic work-up was performed. Muscle biopsy demonstrated abnormal mitochondria structure and heteroplasmic A3243G mutation. Idiopathic growth hormone deficiency and retarded bone age have not been previously reported in MELAS, and these findings delayed testing for mitochondrial disease. This case demonstrates that isolated muscle weakness in the context of other organ system abnormalities should make the investigator consider MELAS. ( J Child Neurol 2006; 21: 77—79).
Topiramate for the Treatment of Infantile Spasms
Authors: Hosain Syed A. , Merchant Sabiha , Solomon Gail E. , Chutorian Abe
Published: June 2007

Topiramate is a new antiepileptic drug with a broad spectrum of efficacy. Reports on the use of topiramate for treatment of infantile spasms are limited. We prospectively followed 15 children with recently diagnosed infantile spasms treated with topiramate for efficacy and tolerability. Twelve patients had symptomatic infantile spasms, and two patients had cryptogenic infantile spasms. Topiramate was started at a dose of 3 mg/kg/day and titrated up to a dose of 27 mg/kg/day in 2 to 3 weeks. The primary efficacy measure was comparison of the seizure rate during the 2-week baseline with the median seizure rate during the first 2 months of treatment with topiramate. We also compared baseline electroencephalograms (EEGs) with post-treatment EEGs. The median seizure rate reduction during the first 2 months of treatment was 41% ( P = .002). Three patients became spasm free (20%), five had > 50% reduction, and three had at least 25% reduction. Four patients did not respond. Three of 15 patients had clearing of hypsarrhythmia. Topiramate was generally well tolerated, with irritability being the most common side effect. Topiramate was efficacious and well tolerated; one patient discontinued the medication because of adverse effects. ( J Child Neurol 2006;21:17—19).
Effect of Antiepileptic Drugs on Plasma Lipids, Lipoprotein (a), and Liver Enzymes
Authors: Mujgan Sonmez Fatma , Demir Ercan , Orem Asim , Yildirmis Sermet , Orhan Fazil , Aslan Adnan , Topbas Murat
Published: June 2007

We conducted a study to assess the effect of phenobarbital, carbamazepine, and valproate on serum lipid profiles and lipoprotein (a) in 64 children with epilepsy (aged between 1 and 15 years) admitted to the child neurology outpatient clinic between July 2000 and July 2002. The children were separated as group 1 (18 children), treated with phenobarbital, 5 mg/kg/day; group 2 (22 children), treated with carbamazepine, 10 to 15 mg/kg/day; and group 3 (24 children), treated with sodium valproate, 20 mg/kg/day. Plasma lipoprotein (a), total cholesterol, triglycerides, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, apolipoprotein A and apolipoprotein B levels, and liver enzymes alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, and γ-glutamyltransferase were determined before the initiation of the treatment and at 3, 6, and 12 months of the treatment period. The mean age of children in group 1 was significantly low compared with those in groups 2 and 3 ( P < .05). The mean pretreatment lipid levels among the groups were not significantly increased. The mean lipoprotein (a) levels were significantly increased in all groups at 3, 6, and 12 months of the treatment period ( P < .05). The increase in alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, total cholesterol, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol at 3, 6, and 12 months was statistically significant in group 1 ( P < .05). The higher levels in lipoprotein (a) (mean > 30 mg/dL) were observed only in carbamazepine-treated patients at 6 and 12 months. The percentage of children with lipoprotein (a) levels over 30 mg/dL was 44%, 63%, and 33% in the phenobarbital-, carbamazepine-, and valproate-treated children, respectively. Antiepileptic drugs significantly increase the level of lipoprotein (a), which is a major risk factor for atherosclerosis, and also have variable effects on other lipid parameters. Lipoprotein (a) levels should be closely followed in patients receiving antiepileptic drugs. ( J Child Neurol 2006;21:70—74).
Clinical Phenotype of South African Children With Neurofibromatosis 1
Authors: Ramanjam Veruschka , Adnams Colleen , Ndondo Alvin , Fieggen Graham , Fieggen Karen , Wilmshurst Jo
Published: June 2007

Forty-eight children with neurofibromatosis 1 presenting between 2000 and 2004 were reviewed for their clinical phenotype, and data were compared with published reports. The median age at presentation was 4 years (range 10 days to 12 years). The male to female ratio was similar (22 male:26 female). There were frequencies of café au lait spots, axillary freckling, Lisch nodules, and new mutations comparable to those cited in the literature. Fewer patients had neurofibromas (4%), but more patients had plexiform neurofibromas of the head and neck (16%). Three patients of the 22 who had neuroimaging had optic gliomas (14%). The most consistent disability, with maximum impact, related to the patient's cognitive level of functioning. School problems, defined as learning and behavioral problems observed in the classroom, were reported in 70% of school-aged children ( n = 21), compared with international figures of 29.8% to 45%. This high prevalence has reinforced the clinic service policy of formal neuropsychology assessments in all children with reported school problems. In addition, earlier referral of children to the service (preschool n = 18) has enabled formal developmental assessments and planning of specific educational placement to optimize learning. This is the first description of the neurofibromatosis 1 phenotype from the African continent. The multidisciplinary approach to management has proved beneficial in the South African context. The combined clinic has resulted in a holistic approach to patient care, early detection of pathology, consistent therapies across the specialties, and better patient attendance and compliance. ( J Child Neurol 2006;21:63—70).
Oromotor and Communication Findings in Joubert Syndrome: Further Evidence of Multisystem Apraxia
Authors: Braddock Barbara A. , Farmer Janet E. , Deidrick Kathleen M. , Iverson Jana M. , Maria Bernard L.
Published: June 2007

This study provides descriptive information in the areas of oromotor abilities and communication to better understand the spectrum of disability in individuals with Joubert syndrome. Participants included 21 individuals with the diagnosis of Joubert syndrome (mean age 10.45 years). Participants completed oromotor and receptive language measures. In addition, all of the participants' speech and gesture communication from a narrative task was coded and analyzed from videotape. Caregivers reported the participants' level of fine and gross motor function. The results show that individuals with Joubert syndrome exhibit a distinct oromotor pattern consistent with verbal and lingual apraxias. Despite significant motor skills deficits and oculomotor apraxia, persons with Joubert syndrome produced gestures when communicating, and those whose speech was less intelligible used a higher rate of gesture compared with those with greater verbal output. These findings suggest a new form of apraxia not previously described in the condition and are consistent with previous research that suggests that persons with Joubert syndrome typically do not exhibit classic symptoms of autism spectrum disorder. ( J Child Neurol 2006;21:160—163; DOI 10.2310/7010.2006.00021).
Tuberous Sclerosis Complex: Correlation of Magnetic Resonance Imaging (MRI) Findings With Comorbidities
Authors: Wong Virginia , Khong Pek-Lan
Published: June 2007

We studied the magnetic resonance imaging (MRI) findings in a cohort of Chinese children with tuberous sclerosis complex to determine the relationship between age, sex, mental retardation, autism, epilepsy, infantile spasm, and early age at onset of seizures and the numbers and locations of tubers detected. We searched our tuberous sclerosis registry, established in 1985 ( N = 44), and performed an analysis of children who had MRIs of the brain performed ( n = 22). A neuroradiologist blinded to the clinical findings scored the MRIs according to the total number and site of the tubers. The following factors were analyzed: age, sex, presence of autism ( n = 7), presence ( n = 19) and severity of mental retardation (mild [ n = 12], moderate to severe [ n = 7]), presence of epilepsy ( n = 21) or infantile spasm ( n = 8), and age at onset of seizures less than 1 year ( n = 10).There was no significant relationship between the number and site of tubers and the following factors: sex, autism, mental retardation, degree of mental retardation, epilepsy, history of infantile spasm, or age at onset of seizures less than 1 year. Only the presence of cortical tubers in the parietal regions had a significant relationship with the history of infantile spasm ( P = .012). Using multiple regression analysis of all of the risk factors, only age is related to the number of tubers in the MRI ( P = .047), and a history of infantile spasm is related to the presence of tubers in the parietal ( P = .009) and occipital ( P = .031) lobes. The associated comorbidities in tuberous sclerosis complex might be explained by more complex underlying genetic or pathologic issues rather than purely by the site of the cortical tubers. We suggest that a developmental approach, by analyzing the age at the appearance of tubers in both symptomatic and asymptomatic cases with the development of other neuropsychiatric comorbidities, should be undertaken to assess the causal relationship. ( J Child Neurol 2006;21:99—105; DOI 10.2310/7010.2006.00027).
Detection of Wallerian Degeneration in a Newborn by Diffusion Magnetic Resonance Imaging (MRI)
Authors: Neil Jeffrey J. , Inder Terrie E.
Published: June 2007

We present the case of an infant with hypoxic-ischemic encephalopathy in whom wallerian degeneration is demonstrated in white-matter fiber tracts by diffusion magnetic resonance imaging (MRI). MRI was undertaken on days 2 and 9 and then at 9 months of age. On day 2, conventional MRI was normal, but diffusion MRI showed bioccipital abnormalities. On day 9, diffusion MRI showed marked abnormalities in the deep white matter of the occipital regions (left > right), corpus callosum, left posterior limb of the internal capsule, and left cerebral peduncle. Water apparent diffusion coefficient values showed a significant reduction in the left occipital white matter and corpus callosum between days 2 and 9 while demonstrating the expected pseudonormalization in cortical gray matter. Images at 9 months showed left occipital porencephaly and atrophy of the left cerebral peduncle, with the infant displaying right hemiplegia at 18 months of age. In this case, the time course of diffusion changes differed between white and gray matter, with diffusion MRI showing delayed wallerian degeneration of the cerebral white matter. This case characterizes this degeneration with clinical and follow-up MRI at 9 months of age. ( J Child Neurol 2006;21:115—118; DOI 10.2310/7010.2006.00034).
Modafinil for Drooling in Cerebral Palsy
Authors: Hurst Daniel , Cedrone Nona
Published: June 2007

Two patients with spastic cerebral palsy recently treated with modafinil at the Walter Reed Army Medical Center child neurology clinic have stopped drooling. This occurred after starting modafinil for spasticity and without other changes in the patients' treatment programs. The decrease in drooling is to a remarkable degree. Both patients had a chronic problem with drooling. One patient has gone from wearing a bib or bandanna, which was constantly wet from drooling to being essentially dry. After starting modafinil, both patients stopped drooling. The parents initially observed decreased drooling at home. Clinic appointment examinations and evaluations at physical therapy confirmed these observations. Better coordination and speech have been noted in each patient. Modafinil improves drooling in at least some patients with spastic cerebral palsy. The decreased drooling is due to improvements noted in swallowing. ( J Child Neurol 2006;21:112—114; DOI 10.2310/7010.2006.00038).
Right Hemisphere Brain Morphology, Attention-Deficit Hyperactivity Disorder (ADHD) Subtype, and Social Comprehension
Authors: Miller Scott R. , Miller Carlin J. , Bloom Juliana S. , Hynd George W. , Craggs Jason G.
Published: June 2007

Social comprehension involves empathy for others' experiences and appropriate responses to nonverbal cues. Previous research using magnetic resonance imaging (MRI) has suggested a relationship between brain morphology and psychiatric syndromes, such as attention-deficit hyperactivity disorder (ADHD), that typically entail social difficulties. The right hemisphere, specifically, has been associated with social skill deficits, and numerous studies have also associated ADHD with social skill deficits. No studies, however, have examined the association of ADHD subtype with both social comprehension and right-hemisphere morphology. Fifty-nine children (6—12 years old) underwent MRI, from which the right hemisphere was classified into four morphologic subtypes. Children were also grouped by ADHD subtype or clinical control status. From Behavior Assessment System for Children (BASC) items, a social comprehension subscale was constructed. Analyses revealed significant differences in social comprehension based on ADHD subtype. Differences in social comprehension based on ADHD status were especially pronounced in children with atypical right-hemisphere morphology. Thus, the diagnosis of ADHD might be associated with underlying risk in the area of social comprehension, especially for children with atypical right-hemisphere morphology. ( J Child Neurol 2006;21:139—144; DOI 10.2310/7010.2006.00039).
Inosiplex Affects the Spectra of Proton Magnetic Resonance Spectroscopy in Subacute Sclerosing Panencephalitis
Authors: Kato Zenichiro , Asano Takahiko , Kondo Naomi
Published: June 2007

In vivo magnetic resonance techniques such as magnetic resonance imaging (MRI) and magnetic resonance spectroscopy have been some of the most useful tools for evaluation of neurologic diseases. In subacute sclerosing panencephalitis, magnetic resonance spectroscopy can be an additional tool for evaluation of disease progression or the efficacy of the treatment, such as interferon or inosiplex, compared with MRI. Inosiplex is one of the effective drugs for subacute sclerosing panencephalitis, but our in vivo and in vitro magnetic resonance spectroscopic study indicated that inosiplex affects the spectra, suggesting a possible failure of neurologic evaluation in a patient with subacute sclerosing panencephalitis treated with inosiplex. ( J Child Neurol 2006;21:177—178; DOI 10.2310/7010.2006.00048).
“A Cold Wind Coming”: Heinrich Gross and Child Euthanasia in Vienna
Authors: Thomas Florian P. , Beres Alana , Shevell Michael I.
Published: June 2007

Medicine in the German Third Reich became an instrument of Nazi political philosophy that included racial purification using biologic measures. This included an involuntary euthanasia program directed at mentally and physically disabled children. One such effort existed at the Am Spiegelgrund Hospital in Vienna under the direction of Dr Heinrich Gross. This article details the scientific and policy origins of child euthanasia in Vienna, the use of scientific materials obtained for personal and professional gain, and the postwar attempts to reconcile with this abject past. ( J Child Neurol 2006;21:342—348; DOI 10.2310/7010.2006.00043) .
Diplegia due to Transcranial Knife-Blade Injury in a 20-Month-Old Child
Authors: Pascual-Castroviejo Ignacio , Pascual-Pascual Samuel Ignacio , Viano Juan
Published: June 2007

Transcranial stab wounds are uncommon among both adults and adolescents and rarely occur in children, particularly when caused by another child. A 20-month-old girl was injured by a 3-year-old cousin, who introduced a knife blade into the brain through the left parietal region. The trajectory of the wound penetrated at least 5 cm, crossed the falx cerebri, and involved both motor cortical areas. The clinical sequela was a severe symmetric spastic diplegia. ( J Child Neurol 2006;21:340—341; DOI 10.2310/7010.2006.00065).
Topical Review: Optimizing Epilepsy Management in Teenagers
Authors: Sheth Raj D. , Gidal Barry E.
Published: June 2007

Optimal epilepsy management in teenage patients represents a particular challenge. These patients are often likely to respond more positively to a regimen that least disrupts their activities. In addition, as a patient group, they are more sensitive to peer perception. Current perceptions of older antiepilepsy drugs do not take into account frequent undesirable side effects or potential adverse interactions with other drugs. Furthermore, they often do not completely control seizures. Recent data suggest that not only do the newer antiepileptic drugs appear to be as efficacious as the older drugs, they also often have more favorable cognitive, cosmetic, and teratogenic side-effect profiles. In addition, newer antiepileptic drugs are being used more often in monotherapy. Successful management of epilepsy in teenagers requires that physicians not only understand the advantages that the newer antiepileptic drugs appear to provide but also consider the social impact of treatment on their patients. ( J Child Neurol 2006; 21: 273—279; DOI 10.2310/7010.2006.00069).
Selenoprotein N Muscular Dystrophy
Authors: Kaindl Angela M.
Published: June 2007

Early spinal rigidity is a nonspecific feature reported in diseases such as neuromuscular and central movement disorders. We present a male patient with rigid spine muscular dystrophy caused by newly identified compound heterozygote mutations of the selenoprotein N gene and discuss this disease as a possible differential diagnosis for early-onset reduced spine mobility. Rigid spine muscular dystrophy is a rare myopathy presenting in childhood with a typical combination of stable or slowly progressive mild to moderate muscle weakness, limitation in flexion of the spine, and progressive restrictive ventilatory disorder. The clinical features of our patient include early-onset rigidity of his spine, scoliosis, mild muscular weakness predominantly of neck and trunk flexors, and restrictive ventilatory disorder. Biopsy of the biceps muscle revealed nonspecific myopathic changes, and molecular analysis confirmed the diagnosis of rigid spine muscular dystrophy. Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis. ( J Child Neurol 2006;21:316—320; DOI 10.2310/7010.2006.00080).
Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family
Authors: Sonmez Fatma Müjgan , Celep Figen , Ugur Sibel Aylin
Published: June 2007

We report six patients with Cockayne syndrome type B without photosensitivity. The patients are from the same inbred family and exhibit variable clinical features. The main clinical manifestations were progressive encephalopathy including intracranial calcification and white-matter lesions, dwarfism without growth hormone deficiency, senile appearance, mental and motor retardation, atrophy of subcutaneous fat tissue, severe pectus carinatus, and spasticity. Clinical photosensitivity was not observed in any patient. Other clinical findings were cataract, pigmentary retinopathy, and peripheral neuropathy. The onset of the disease was between 3 and 6 months of age. Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for Cockayne syndrome type B, confirming the clinical diagnosis. ( J Child Neurol 2006;21:333—337; DOI 10.2310/7010.2006.00082).
Evaluation of the Influence of Antiepileptic Therapy on Antioxidant Enzyme Activity and Lipid Peroxidation in Erythrocytes of Children With Epilepsy
Authors: Sobaniec Wojciech , Solowiej Elzbieta , Kulak Wojciech , Bockowski Leszek , Smigielska-Kuzia Joanna , Artemowicz Barbara
Published: June 2007

The aim of this study was to evaluate the influence of antiepileptic therapy on antioxidant enzyme activity and lipid peroxidation in the erythrocytes of children with epilepsy. For this purpose, the activity of superoxide dismutase, glutathione peroxidase, and glutathione reductase and the malondialdehyde concentration in 61 healthy children and 90 children with epilepsy were measured. The activities of all of these enzymes were insignificantly higher, whereas the malondialdehyde concentration was significantly lower in the patients treated with carbamazepine monotherapy. In patients treated with valproate monotherapy, the activities of all enzymes were insignificantly lower, whereas the malondialdehyde concentration was insignificantly higher. In patients treated with polytherapy, the activity of superoxide dismutase was insignificantly lower, whereas the activity of glutathione peroxidase and glutathione reductase was insignificantly higher and the malondialdehyde concentration was lower. There were differences in glutathione reductase activity between the valproate monotherapy group and both the carbamazepine monotherapy and polytherapy groups and in malondialdehyde concentrations between the carbamazepine and valproate groups. The results indicate that the oxidant-antioxidant balance in children with epilepsy is modified by antiepileptic therapy. (J Child Neurol 2006;21:558—562; DOI 10.2310/7010.2006.00115).
14-3-3 Protein Detection in the Cerebrospinal Fluid of Patients With Influenza-Associated Encephalopathy
Authors: Fujii Katsunori , Tanabe Yuzo , Uchikawa Hideki , Kobayashi Kazuhiko , Kubota Hiroaki , Takanashi Jun-ichi , Kohno Yoichi
Published: June 2007

Influenza-associated encephalopathy is characterized by high fever, convulsions, and loss of consciousness associated with influenza infection in children, but its pathophysiology remains to be clarified. We examined 14-3-3 proteins, which
Neuroradiologic Findings in Sotos Syndrome
Authors: Horikoshi Hiroko , Kato Zenichiro , Masuno Mitsuo , Asano Takahiko , Nagase Tomoko , Yamagishi Yuka , Kozawa Ryo , Arai Takahiro , Aoki Minako , Teramoto Takahide , Omoya Kentaro , Matsumoto Naomichi , Kurotaki Naohiro , Shimokawa Osamu , Kurosawa Kenji , Kondo Naomi
Published: June 2007

Sotos syndrome is a well-known anomaly syndrome characterized by overgrowth, characteristic facial gestalt, and developmental delay, and haploinsufficiency of the NSD1 gene has been revealed as one of the major genetic causes. However, there have been only a few reports on neuroradiologic findings by computed tomography (CT) or magnetic resonance imaging (MRI), and functional examination of the brain has not been reported. We examined three cases with typical Sotos syndrome, which also were confirmed by genetic analysis with a specific probe for the NSD1 gene. The results of MRI showed the characteristic features that have been reported previously. The findings obtained by using single-photon emission computed tomography and magnetic resonance spectroscopy suggested an association between mental delay and behavioral tendency in Sotos syndrome and immaturity in frontal brain function. (J Child Neurol 2006;21:614—618; DOI 10.2310/7010.2006.00145).
Congenital and Compensated Vestibular Dysfunction in Childhood: An Overlooked Entity
Authors: Weiss Avery H. , Phillips James O.
Published: June 2007

We report five children with previously unrecognized vestibular dysfunction detected by clinical examination and confirmed by quantitative vestibular testing. Patient 1 presented with fluctuating visual acuity and intermittent nystagmus. Patient 2 had congenital hearing loss associated with imbalance, delayed motor development, and cyclic vomiting. Patient 3 had neurotrophic keratitis with an intermittent head tilt, imbalance, and motor delays. Patient 4 showed ataxia and eye movement abnormalities following traumatic brain injury and had reading difficulties. Patient 5 had episodic vertigo and eye movement abnormalities from infancy. Clinical vestibular testing emphasized spontaneous nystagmus, rapid head thrust, and assessment of post—rotatory nystagmus. Quantitative vestibular testing included the sinusoidal chair rotation and velocity step tests, measurement of dynamic visual acuity, post—head-shake nystagmus, and computerized platform posturography. Pediatric neurologists encounter children with congenital and compensated vestibular dysfunction, which can be recognized on the basis of relevant history and clinical abnormalities of the ocular-ocular reflex. (J Child Neurol 2006;21:572—579; DOI 10.2310/7010.2006.00151).
Stroke Associated With Barth Syndrome
Authors: Ances Beau M. , Sullivan Joseph , Weigele John B. , Hwang Vivian , Messé Steven R. , Kasner Scott E. , Liebeskind David S.
Published: June 2007

Barth syndrome is an inherited disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy. We describe a case of acute stroke owing to Barth syndrome that required intra-arterial thrombolysis. This case suggests that cardiovascular complications can be observed in patients with Barth syndrome. Stroke prevention measures, including the use of antithrombotic agents, might be warranted. (J Child Neurol 2006;21:805—807; DOI 10.2310/7010.2006.00177).
Association of Adenosine Deaminase Polymorphism With Mild Mental Retardation
Authors: Saccucci Patrizia , Arpino Carla , Rizzo Renata , Gagliano Antonella , Volzone Anna , Lalli Cristina , Galasso Cinzia , Curatolo Paolo
Published: June 2007

The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the genetic basis of mild mental retardation, we explored the role of polymorphisms of adenosine deaminase, an enzyme that is supposed to act as a neuroregulatory protein. To this end, we conducted an association study comparing children with mild mental retardation of unknown origin with two groups of controls: (1) apparently healthy children and (2) children with moderate or severe mental retardation of known etiology. Overall, 338 participants were enrolled in the study. Cases (ie, 80 children) were more likely than controls (ie, 153 healthy children and 105 children with moderate or severe mental retardation) to have the low-activity ADA-Asn 8 (ADA1 *2) polymorphism (P < .05) and to present the ADA1 *2/ ADA2 *1 haplotype. No significant differences were found with respect to adenosine deaminase polymorphisms when comparing the group with moderate or severe mental retardation of known causes and healthy controls. In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA1 *2) of adenosine deaminase in the pathogenesis of mild mental retardation. (J Child Neurol 2006;21:753—756; DOI 10.2310/7010.2006.00180).
Mental Retardation and Epilepsy in Patients With Isolated Cerebellar Hypoplasia
Authors: Ventura Patrizia , Presicci Anna , Perniola Tommaso , Campa Maria Gloria , Margari Lucia
Published: June 2007

Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding of the role of the cerebellum in cognition and behavior, the opinion that the clinical presentation of congenital cerebellar diseases is principally linked to motor dysfunction is common. This is largely due to the lack of well-organized epidemiologic studies on the prevalence of nonmotor disturbances in cerebellar disease. The association between congenital cerebellar disease and epilepsy has rarely been described. We report clinical, neurophysiologic, neuroimaging, and neuropsychologic features in a group of 14 patients with congenital nonprogressive cerebellar ataxia associated with cerebellar hypoplasia, 5 of whom have familial disease, aiming to further a better knowledge of the prevalence of cognitive and/or emotional impairment and epilepsy. The results confirm that cerebellar hypoplasia predisposes individuals to psychomotor delay (71.4%) and cognitive impairment (85.7%). Moreover, the tendency toward abnormal electroencephalographic (EEG) findings (78.5%), associated in a minor percentage of cases with epilepsy (28.5%), is also evident in our study. (J Child Neurol 2006;21:776—781; DOI 10.2310/7010.2006.00181).
Predictors of Scoliosis in Rett Syndrome
Authors: Ager Sarah , Fyfe Susan , Christodoulou John , Jacoby Peter , Schmitt Lincoln , Leonard Helen
Published: June 2007

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. Following apparently normal development, these girls typically regress and lose previously attained cognitive, social, and motor skills. Severe intellectual and physical disabilities remain throughout life. Mutations in the methyl-CpG-binding protein 2 gene, MECP2, are detected in approximately 80% of cases and are associated with phenotypic variability. Population-based data on Australian cases were used to study the association between early developmental and genetic factors and the onset of scoliosis. The median age at scoliosis onset was 9.80 years, and three quarters of subjects had developed scoliosis by 13 years of age. Children with compromised early development before 6 months, those who were less mobile at 10 months, and those who never walked were more likely to have an earlier onset of scoliosis. When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis. (J Child Neurol 2006;21: 809—813; DOI 10.2310/7010.2006.00183).
Epilepsy and Neuropsychologic Deficit in a Child With Cerebellar Astrocytoma
Authors: Strazzer Sandra , Zucca Claudio , Fiocchi Isabella , Genitori Lorenzo , Castelli Enrico
Published: June 2007

We report the case of a 32-month-old female patient presenting with cerebellar pilocytic astrocytoma with epileptic seizures, psychomotor delay, and severe language delay. Usually, the typical onset of cerebellar tumor is characterized by raised intracranial pressure and cerebellar incoordination. A review of the few cases reported in the literature evidencing epileptic seizures symptomatic of a focal, nondegenerative mass limited to the cerebellum is included. Moreover, a discussion about the cerebellar contribution to nonmotor functions in children is presented, in particular following tumor resection. (J Child Neurol 2006;21:817—820; DOI 10.2310/7010.2006.00185).