bluuebunny/crossref_metadata_2025 huggingface dataset:
Respiratory Sinus Arrhythmia in Patients With Prader-Willi Syndrome
Authors: DiMario Francis J. , Bauer Lance , Volpe Jana , Cassidy Suzanne B.
Published: December 2008

In this investigation, we sought to further test the hypothesis that parasympathetic deficiency exists among persons with Prader-Willi syndrome, by examining respiratory sinus arrhythmia. The study sample comprised two groups of patients: 14 subjects with Prader-Willi syndrome and 14 age- and sex-matched controls. Each subject's electrocardiogram was recorded in a quiet room and digitized by a personal computer during five 1-minute periods. RR intervals within each 1-minute period were converted to heart rate in 120 successive 0.5-second intervals. The resultant heart rate time series was converted to its underlying frequency composition by a fast Fourier transform and averaged across minutes. Respiratory sinus arrhythmia was defmed as the variability in the time series over a frequency range (0.096 to 0.48 Hz) corresponding to a range of respiratory rates from six to 30 breaths/minute. Analysis revealed significantly less variability in the heart rates of subjects with Prader-Willi syndrome relative to age- and sex-matched controls (group x frequency bin: F = 2.26, P < .05). An analysis of covariance adjusting for body mass index differences between the groups produced identical results. These findings support the existence of a parasympathetic deficiency among subjects with Prader-Willi syndrome independent of their body mass. This is likely due to dysregulation of the central autonomic network. (J Child Neurol 1996;11:121-125).
Correlation Between the Histopathologic, Genotypic, and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood
Authors: Ouvrier Robert
Published: December 2008

In recent years, there have been remarkable advances in the understanding of the molecular genetic basis of the hereditary polyneuropathies. Linkage of the genes for Charcot-Marie-Tooth disease to chromosomes 1 and then 17 was followed by the discovery that the commonest form of Charcot-Marie-Tooth disease (CMT1A) was due to a duplication of DNA at 17p11.2-12. This duplication was shown to contain the gene for peripheral myelin protein PMP22. The finding that mutations of the myelin protein PMP22 gene were present in some Charcot-Marie-Tooth disease cases lacking the duplication confirmed the myelin protein PMP22 gene as the site of the defect in Charcot-Marie-Tooth disease. Similarly, defects of the myelin protein Po gene on chromosome 1 have been demonstrated in a rarer form of Charcot-Marie-Tooth disease (CMT1B). A deletion of DNA at 17p11.2-12 results in the disorder hereditary neuropathy with liability to pressure palsies. Other mutations of the myelin protein PMP22 and myelin protein Po genes have been associated with the clinical syndrome known as Dejerine-Sottas disease. An X-linked form of Charcot-Marie-Tooth disease (CMTX) has been characterized and shown to be due to mutations of the gap junction protein, connexin 32. Transgenic murine models with inactivated myelin protein PMP22 and myelin protein Po genes have shown pathologic changes strikingly similar to those seen in human patients with disturbances of those genes. In this paper, the clinical and histopathologic characteristics of these conditions are discussed in relation to the genotypic basis. It will be argued that there is still an important place for the clinician and nerve pathologist in a medical world immersed in the wonders of molecular genetics. (J Child Neurol 1996; 11:133-146).
Abstracts
Authors: Symposium Carrell-Krusen
Published: December 2008

The Carrell-Krusen Symposium was established in 1977 by Dr Jay Cook, who was the Director of Pediatric Neurology at Texas Scottish Rite Hospital for Children until 1989. The Symposium was named after Dr Brandon Carrell, son of the founder of Texas Scottish Rite Hospital for Children, and Dr Edward Krusen, the first Muscular Dystrophy Association Clinical Director for the city of Dallas. In 1990, Dr Susan Iannaccone became the Symposium Director, and since then, the focus of the meeting has been the treatment of neuromuscular disease, with an emphasis reflecting the changes in clinical practice. The invited Carrell-Krusen Visiting Professors are world renowned for their work in neuromuscular disease.
Hypertensive Encephalopathy in Childhood
Authors: Wright Rhonda R. , Mathews Katherine D.
Published: December 2008

Hypertensive encephalopathy is an uncommon but recognized complication of malignant hypertension in children. We reviewed the clinical course, laboratory studies, and outcomes of 12 patients with hypertensive encephalopathy seen at the University of Iowa Hospitals and Clinics between 1979 and 1994. The most common presenting symptoms were seizures, headache, and vision changes. Laboratory studies were nonspecific and in some patients were normal. Hypertensive encephalopathy is a clinical diagnosis. Management consists of recognition of this syndrome and aggressive treatment of hypertension. The neurologic outcome in our series was good. (J Child Neurol 1996;11:193-196).
Study of Subarachnoid Spaces in Children With Idiopathic Mental Retardation
Authors: Prassopoulos P. , Cavouras D. , Ioannidou M. , Golfinopoulos S.
Published: December 2008

The aim of this study was to assess quantitatively the size of the subarachnoid space in children with "idiopathic" mental retardation. The extent of various cerebrospinal fluid compartments was measured in 106 brain computed tomographic examinations of children with idiopathic mental retardation, and the results were compared with the corresponding normative data. The third ventricle was enlarged in 77% of the cases. A mild degree of diffuse widening of the subarachnoid spaces was found in about 30% of the patients. These morphologic alterations are additional observations supporting the hypothesis that "idiopathic" mental retardation has a biologic basis. (J Child Neurol 1996;11:197-200).
Prognosis of Childhood Epilepsy in Newly Referred Patients
Authors: Hauser E. , Freilinger M. , Seidl R. , Groh C.
Published: December 2008

The aim of this study was to investigate the prognosis of childhood epilepsy and to analyze prognostic factors in addition to remission rate in a follow-up of newly referred patients. Two hundred eighty-one patients were followed for a mean period of 5.3 years. Overall, 253 patients (90%) achieved 1-year remission. The beginning of a 1-year seizure-free period was achieved in 77.9% by 1 year, in 84% by 2 years and in 88.6% by 3 years after onset of treatment. Early onset of seizures, symptomatic etiology, and neurologic handicap predicted a worse prognosis. In 44 of 253 children with complete suppression of seizures for 1 year, relapses occurred within the follow-up period. In one child with a relapse, remission could not be achieved in the 2nd year thereafter. In conclusion, our study shows a good prognosis for most children with epilepsy, especially in patients with idiopathic epilepsy and late onset of seizures and without neurologic dysfunction. Moreover, our data strongly suggest that the long-term pattern of seizure control is largely established during the first 2 years of treatment. ( J Child Neurol 1996;11:201-204).
Evidence of a Third Locus for Benign Familial Convulsions
Authors: Lewis Tracey B. , Shevell Michael I. , Andermann Eva , Ryan Stephen G. , Leach Robin J.
Published: December 2008

Two autosomal dominant forms of benign idiopathic epilepsy of early life have been described: benign neonatal familial convulsions and benign infantile familial convulsions. Herein we describe a pedigree with familial convulsions in which the age of onset is intermediate between that seen in these two disorders. Two genes responsible for benign neonatal familial convulsions have been mapped to chromosome 20q and to chromosome 8q. Previously, the chromosome 20q benign neonatal familial convulsions locus had been excluded in this pedigree. Further linkage analysis in our laboratory revealed that the chromosome 8 benign neonatal familial convulsions locus also is not responsible for seizures in this pedigree. These results indicate that there are at least three loci responsible for autosomal dominant benign epilepsies of early life. ( J Child Neurol 1996;11:211-214).
Natural History, Prognosis, and Lipid Abnormalities of Idiopathic Ischemic Childhood Stroke
Authors: Abram Harry S. , Knepper Laurie E. , Warty Vijay S. , Painter Michael J.
Published: December 2008

A study was performed to assess the natural history, prognostic factors, and lipid and apolipoprotein abnormalities of idiopathic ischemic childhood stroke. A case series of 42 children, retrospectively identified with idiopathic ischemic strokes, were reassessed an average of 7.4 years (range, 1 to 19 years) after presentation. Patients were interviewed and examined, and fasting serum was obtained for lipid and apolipoprotein analysis. Poor outcome was defined as moderate to severe hemiparesis, special educational needs, epilepsy, recurrent stroke, or stroke-related death. Eighteen (43%) of the patients had a poor outcome. Among them were moderate to severe hemiparesis in 14 (78%), recurrent strokes in seven (39%), and one death. Poor outcome was evident early in their clinical course. Independent of outcome, lipid abnormalities including an elevated triglyceride and low-density lipoprotein cholesterol, and a depressed high-density lipoprotein cholesterol were seen in one third of all patients. A depressed ratio of apolipoprotein A-1 to apolipoprotein B (using adult normative values) was seen in half of the entire cohort. Clinical features of children with unexplained ischemic strokes at presentation and their subsequent course are described. Significant risk factors for a poor outcome include (1) persistence of hemiparesis 1 month after the stroke, (2) cortical as opposed to subcortical location, and (3) bilateral occlusive disease with telangiectasia on cerebral angiography. Previously described risk factors for an unfavorable prognosis, including occurrence during infancy and presentation with seizures, were not substantiated. Lipid abnormalities occur at an increased frequency in children after unexplained ischemic strokes. Prospective assessment of lipoprotein profiles are needed to further assess clinical significance. Assessing apolipoproteins may provide further insight than lipid values alone. (J Child Neurol 1996;11:276-282).
Behavioral Outcomes After Pediatric Closed Head Injury: Relationships With Age, Severity, and Lesion Size
Authors: Fletcher Jack M. , Levin Harvey S. , Lachar David , Kusnerik Lori , Harward Harriet , Mendelsohn Dianne , Lilly Matthew A.
Published: December 2008

This study investigated the behavioral outcomes and adaptive functioning of 138 children with mild to severe closed head injury in the 6- to 16-year age range. Each child was evaluated with the Personality Inventory for Children-Revised. A subset of this sample (n = 77) received the Vineland Adaptive Behavior Scales. Results revealed little evidence for group differences based on severity of closed head injury on scales associated with psychopathology on the Personality Inventory for Children-Revised. However, children with severe closed head injury were viewed as experiencing more difficulties than children with mild-moderate closed head injury on those components of the Personality Inventory for Children-Revised most closely associated with cognitive functions. In addition, on the Vineland Adaptive Behavior Scales, severely injured children had lower scores on the Communication and Socialization scales than children with mild-moderate injury. Relationships between the size of frontal and extrafrontal lesions from concurrent magnetic resonance imaging and behavioral outcomes were not apparent. This study suggests that outcome measures assessing adaptive behavior and cognitive functions are more sensitive to severity of closed head injury than parent-based scales of internalizing and externalizing psychopathology. (J Child Neurol 1996; 11: 283-290).
Congenital Muscular Dystrophy Associated With Merosin Deficiency
Authors: North Kathryn N. , Specht Linda A. , Sethi Rajesh K. , Shapiro Frederic , Beggs Alan H.
Published: December 2008

"Classic" congenital muscular dystrophy is a heterogeneous group of disorders, characterized by early-onset muscle weakness and hypotonia, absence of overt cerebral or ocular symptoms, and muscle pathology consistent with a dystrophic process. A subset of patients with congenital muscular dystrophy have recently been found to be deficient in the extracellular matrix protein merosin. Consequently, we reviewed the clinical, pathologic, and immunohistochemical features of 12 patients (six males and six females) with classic congenital muscular dystrophy who have been seen at the Children's Hospital, Boston, over the past 15 years. There was marked clinical heterogeneity within this patient population, with age of independent ambulation ranging from 13 months to 6 years. Immunocytochemical analysis using antibodies to merosin, dystrophin, 43-kDa dystroglycan, adhalin, and laminin was normal in 11 of 12 patients. One patient had markedly abnormal staining for merosin; the majority of fibers were negative, although occasional fibers demonstrated patchy staining. Immunoblot analysis in this patient demonstrated markedly reduced levels of merosin (< 10% compared to controls and other patients), of apparently normal size. Clinically, this patient could be differentiated from the others by a marked elevation of serum creatine kinase (> 1000 U/L) and the presence of early white-matter changes on magnetic resonance imaging. The results of this study support the observation that abnormalities of merosin are present in a subgroup of patients with classic congenital muscular dystrophy. Although marked elevation of serum creatine kinase and white-matter changes on magnetic resonance imaging may serve to distinguish these patients from other patients with congenital muscular dystrophy, there remains a large proportion of patients in whom the underlying pathogenesis remains to be elucidated. (J Child Neurol 1996; 11:291-295).
Electron Microscopic Examination of Skin Biopsy as a Cost-Effective Tool in the Diagnosis of Lysosomal Storage Diseases
Authors: Prasad Asuri , Kaye Edward M. , Alroy Joseph
Published: December 2008

In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and mucolipidosis IV. Although the biopsy was not diagnostic in other categories of storage diseases, it proved to be highly sensitive and provided valuable clues to direct further investigations on the basis of morphologic appearance of stored material and the cell type affected. Only in two cases of biochemically proven lysosomal storage disease was the morphologic diagnosis unable to be confirmed. We have compared the cost of screening for storage disorders using skin biopsy with the cost of performing multiple lysosomal enzyme assays. Our findings indicate that the skin biopsy, although more expensive than a single enzyme assay, provides an efficient, rapid, cost-effective tool to screen for more than 35 lysosomal storage disorders. ( J Child Neurol 1996;11:301-308).
Topical Review: Antidyskinetic Drug Therapy for Pediatric Movement Disorders
Authors: Pranzatelli Michael R.
Published: December 2008

The pharmacologic armamentarium used to treat dyskinesias in childhood is increasing. Anticonvulsant drugs as a class are still some of the broadest-spectrum antidyskinetic agents, probably because the class includes so many differently acting drugs or because dyskinesias are manifestations of subcortical electrical events. This group is enhanced by recent developments in γ-aminobutyric acid and glutamate receptor pharmacology, which promise new antidyskinetic drugs. Other drugs acting at receptors for monoamines (dopamine, norepinephrine, and serotonin), acetylcholine, opioids, or histamine may provide symptomatic improvement. Fewer pharmacotherapies address the underlying pathophysiology of movement disorders. Of these, drugs or biologicals for immunomodulation are the most developed, but the group also includes antioxidants, cofactors, metabolic inhibitors, and chelators. There is potential for drugs that block the neurotoxic effects of glutamate to treat movement disorders and reverse or prevent brain injury. Peripheral blockade of focal dyskinesias through botulinum toxin offers a useful alternative to drugs in some patients. (J Child Neurol 1996;11:355-369).
Comparison of Simultaneous Versus Delayed Ventriculoperitoneal Shunt Insertion in Children Undergoing Myelomeningocele Repair
Authors: Miller Peter D. , Pollack Ian F. , Pang Dachling , Albright A. Leland
Published: December 2008

The timing of cerebrospinal fluid shunt insertion for those neonates with hydrocephalus in association with myelomeningocele remains controversial. To examine whether there was a difference in either the complication rate or mean hospital stay for neonates undergoing myelomeningocele repair and shunting under the same anesthetic (simultaneous group) versus those in whom shunt insertion was delayed for several days after myelomeningocele closure (sequential group), we reviewed the results obtained with these two approaches in a series of 69 consecutive patients who underwent both myelomeningocele closure and shunt insertion at our institution between 1987 and 1993. Twenty-one infants underwent simultaneous myelomeningocele repair and shunting, and 48 underwent sequential procedures. The decision to shunt concurrently with myelomeningocele repair rather than in a delayed fashion was based primarily on surgeon preference rather than initial head circumference, which did not differ significantly between the two groups. The frequency and type of hydrocephalus-related complications (eg, wound leak, cerebrospinal fluid infection, or shunt malfunction) that occurred during the first 6 months after myelomeningocele closure were compared between the two groups. Neither the overall frequency of complications nor the frequency of cerebrospinal fluid infection, shunt malfunction, or symptomatic Chiari malformation differed significantly between the two groups. In contrast, there was a significantly higher rate of myelomeningocele wound leak in the sequential group versus the simultaneous group (eight versus zero; P = .05). Mean hospital stay for the sequential group was also significantly longer than the simultaneous group (22 days versus 13 days; P = .05). These results suggest that simultaneous myelomeningocele repair and ventriculoperitoneal shunt insertion reduces hospital stay and back wound morbidity in those patients with evidence of hydrocephalus at birth, without an inordinate increase in shunt-related complications. ( J Child Neurol 1996;11:370-372).
Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease
Authors: Topçu Meral , Erdem Guliz , Saatçi Islil , Aktan Gökhan , Simsek Ali , Renda Yavuz , Schutgens Ruud B. H. , Wanders Ronald J. A. , Jacobs Cornelis
Published: December 2008

We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized. Both diseases are characterized by predominant subcortical white-matter involvement and dentate nuclei lesions with variable basal ganglia involvement. Canavan disease differs from L-2-hydroxyglutaric acidemia by the presence of typical brainstem involvement. (J Child Neurol 1996;11:373-377).
Treatment of Neonatal Seizures With Carbamazepine
Authors: Singh Balbir , Singh Poonam , Al Hifzi Ibrahim , Khan Masood , Majeed-Saidan Mohammed
Published: December 2008

Carbamazepine has been used in adults and children for over 30 years. In spite of an excellent therapeutic and side-effect profile in older children, it has never been used as a primary anticonvulsant in neonates. This is the first report of the long-term use of carbamazepine in neonates. Ten full-term neonates with two or more seizures due to hypoxic-ischemic encephalopathy were given 10 mg/kg of carbamazepine as a loading dose via nasogastric tube. Twenty-four hours later, the first five patients began a maintenance regimen of 21 mg/kg/daily, and the remaining five patients began a maintenance regimen of 15 mg/kg/daily, all via nasogastric tube. Therapy was continued for 3 to 9 months. Drug levels were monitored every 2 to 4 hours during the first 24 hours, and on days 2, 4, 8, 15, 30, 45, and 60, and monthly thereafter. Absorption of carbamazepine was excellent even in sick neonates. Therapeutic levels were reached in 2 to 4 hours in all patients. Peak levels were achieved in 4 to 16 hours (mean, 9.2 ± 4.2). Elimination half-life was 24.5 hours. Levels dropped precipitously around 8 to 15 days and thereafter declined slowly over the next 3 months. Seizure control was excellent; only two patients had one seizure each during the first 10 hours. There were no gastrointestinal, hepatic, hematologic, renal, or dermatologic side effects. This preliminary study shows that carbamazepine may be an effective anticonvulsant for neonatal seizures. (J Child Neurol 1996;11:378-382).
Head Circumference Measurements in Children With Autism
Authors: Davidovitch Michael , Patterson Bonnie , Gartside Peter
Published: December 2008

To assess head circumference in children with autism, 148 charts were retrospectively reviewed. All of the children met the Diagnostic and Statistical Manual ofmental Disorders (DSM-III or DSM-III-R) criteria for autism and had no known underlying condition that might affect head circumference. In addition, data were collected regarding height, weight, brain imaging, cognitive development, adaptive behavior, and language. The children were divided into two groups: those with head circumference at or above the 98th percentile (Group 1) and those with head circumference below the 98th percentile (Group 2). Group 1 consisted of 27 (18.2%) of the children. Height measurements were significantly higher in Group 1 as compared with Group 2 (P = .0006) as were weight measurements (P = .0003). Group 1 had a significantly lower percentage of females (P = .04) and lower adaptive behavior scores (P = .0067) than Group 2. Routine brain imaging studies could not explain the macrocephaly in Group 1. The etiology of large head circumference and increased growth indices in children with autism is unclear. (J Child Neurol 1996;11:389-393).
Oxidative Stress in Sudden Infant Death Syndrome
Authors: Huggle Stefanie , Hunsaker John C. , Coyne Carolyn M. , Sparks D. Larry
Published: December 2008

We investigated the hippocampus and parahippocampal cortex of victims of sudden infant death syndrome and of age-matched infants dying acutely of known causes (non-sudden infant death syndrome controls). Tissue sections were investigated for the presence of neurons expressing signs of elevated levels of free radical using immunohistochemical markers for superoxide dismutase and glutathione peroxidase. Brain tissues displayed immunopositive neurons in every infant. In control infants, an age-related decline in the number of superoxide dismutase- and glutathione peroxidase-immunoreactive neurons was apparent in the hippocampus and parahippocampal cortex. Significantly increased numbers of immunoreactive neurons were found in victims of sudden infant death syndrome under 6 months of age compared to age-matched controls. This suggests that infants who later become victims of sudden infant death syndrome may experience antemortem periods of oxidative stress, elevated levels of free radicals, and compensatory up-regulation of the free radical scavenger enzymes superoxide dismutase and glutathione peroxidase. (J Child Neurol 1996; 11:433-438).
3,4-Diaminopyridine in Childhood Myasthenia: Double-Blind, Placebo-Controlled Trial
Authors: Anlar Banu , Varli Kubilay , Ozdirim Emire , Ertan Mevlut
Published: December 2008

Eleven patients with congenital and five with juvenile myasthenia gravis, aged 5 to 24 years, were given 3,4-diaminopyridine in a double-blind, placebo-controlled, crossover study. Clinical improvement was observed in 5 of 11 congenital myasthenia patients, and placebo effect, in 3 of 11. Juvenile myasthenia patients did not respond. Single-fiber electromyographic studies did not reveal any changes correlating with the clinical status of the patient. This study demonstrates the importance of double-blind and placebo-controlled studies to determine the effect of 3,4-diaminopyridine in congenital myasthenia. This drug may have different effects on various presynaptic and postsynaptic defects of neuromuscular transmission resulting in congenital myasthenia syndromes. (J Child Neurol 1996;11:458-461).
Study of Nerve Conduction and Late Responses in Normal Chinese Infants, Children, and Adults
Authors: Cai Fangcheng , Zhang Jiemin
Published: December 2008

Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all subjects as well as in the median and ulnar nerves in infants; (3) sensory conduction velocity, latency, and amplitude in the median, ulnar, and sural nerves; and (4) the dif ference in minimal latencies of both H-reflex and F-waves between corresponding nerves in opposite limbs and between two nerves in the same limb. The motor conduction velocities, sensory conduction velocities, F-wave velocities, and H-reflex velocities in newborns were approximately 50%, 40%, 40 to 45%, and 40 to 45% of adult values, respectively. At age 3 years, the normal values were in the adult range for all motor conduction velocities and for the sensory conduction velocities in the upper limbs. The sensory conduction velocities, H-reflex velocities, and F-wave velocities in the lower limbs did not reach adult values until age 6 years whereas the upper limb F-wave velocities reached adult levels between 6 and 14 years in different nerves. These results indicate that adult values for nerve conduction velocities, including the late responses, are reached earlier in the lower extremities; however, conduction velocities at any age are always faster in the upper limbs and in the proximal compared to the distal segments. The maturation process occurs most rapidly during the first 3 to 6 years of life, especially in the first year. This parallels the histologic development of peripheral nerves during childhood. (J Child Neurol 1997; 12:13-18).
Pediatric Leptomeningeal Metastases: Outcome Following Combined Therapy
Authors: Chamberlain Marc C.
Published: December 2008

Fifteen children ranging in age from 4 to 18 years with leptomeningeal metastases were evaluated for extent of tumor and treated with radiotherapy or chemotherapy. Histologic diagnosis included: acute lymphoblastic leukemia (4); anaplastic astrocytoma (1); ependymoma (2); nonseminomatous germ cell tumor (1); non-Hodgkin's lymphoma (1); pineoblastoma (1); and primitive neuroectodermal tumor not otherwise specified (2). Pretreatment imaging studies demonstrated recurrent intracranial parenchymal disease in nine, spinal disease in four, and abnormal radioisotope ventriculography in six. Systemic disease was seen in four children (3 leukemia; 1 non-Hodgkin's lymphoma). All children were treated with systemic chemotherapy and intraventricular chemotherapy. Nine children received radiotherapy to bulky or symptomatic leptomeningeal disease. Median survival was 6 months (range, 4-18 months). Children with hematologic malignancies had superior outcomes compared to children with solid tumors. Three children with leukemic or lymphomatous meningitis are alive and disease free whereas all children with carcinomatous meningitis died. In conclusion, leptomeningeal metastases in children portends a limited survival, and therapies at this time remain palliative except in children with hematologic malignancies. (J Child Neurol 1997;12:53-59).
Expression of HLA Class I Antigens in Skeletal Muscle Is a Diagnostic Marker in Juvenile Dermatomyositis
Authors: Topaloglu Haluk , Muntoni Francesco , Dubowitz Victor , Sewry Caroline
Published: December 2008

HLA class I gene products are immunocytochemically detectable in the skeletal muscle of many patients with inflammatory conditions. We report three cases of juvenile dermatomyositis with minimal histologic abnormalities and no inflammation in the muscle biopsies. All three showed strong expression of HLA class I antigens on muscle fibers. Analysis of HLA class I expression is thus a useful marker for the diagnosis of inflammatory muscle disease, even in the absence of histologic changes. (J Child Neurol 1997;12:60-63).
Cortical Tuber Count: A Biomarker Indicating Neurologic Severity of Tuberous Sclerosis Complex
Authors: Goodman Michael , Lamm Steven H. , Engel Arnold , Shepherd Charles W. , Houser O. Wayne , Gomez Manuel R.
Published: December 2008

The relationship between the number of cortical tubers observed by magnetic resonance imaging (MRI) and the severity of cerebral dysfunction of tuberous sclerosis patients has been examined in a meta-analysis of the published literature. The literature review has identified five independent studies for examining the association. These studies consistently reveal that the cortical tuber count detected on MRI scans is increased among those with more severe cerebral disease. Severity of the cerebral dysfunction is measured by the seizure status and its control and by the developmental status and the level of mental retardation. Meta-analysis demonstrates that within a study population, the MRI-detected cortical tuber count is six times more likely to be above the median count for tuberous sclerosis patients with severe cerebral dysfunction (poor seizure control or moderate-severe retardation or both) than more mildly affected tuberous sclerosis patients. Similarly, across studies, moderately to severely affected patients are five times more likely to have greater than seven MRI-detected cortical tubers than those more mildly affected. These associations are both statistically significant and strong. The cortical tuber count is a biomarker that reasonably predicts the severity of cerebral dysfunction of tuberous sclerosis. Cortical tubers of tuberous sclerosis form in the early gestational period. The embryologic disruption determining the clinical severity of the cortical dysfunction of tuberous sclerosis is set in the early gestational period. (J Child Neurol 1997;12:85-90).
Chiari I Malformation: Association With Seizures and Developmental Disabilities
Authors: Brill Charles B. , Gutierrez Juan , Mishkin Mark M.
Published: December 2008

Chiari I malformation, a congenital abnormality in which deformed cerebellar tonsils are displaced downward through the foramen magnum, commonly presents in patients with headache or symptoms of dysfunction of the cerebellum, brain stem, and cervical spinal cord. We report 11 children with Chiari I malformation who presented with seizures and developmental delay in motor or language function with or without autistic features. To our knowledge, an association between Chiari I malformation and seizures or neurodevelopmental deficits or both has not been previously reported. We believe that Chiari I malformation should not be considered an incidental finding in these patients, but may be a marker for subtle cerebral dysgenesis. Chiari I and II malformations may constitute a complex but continuous spectrum, related to the timing and severity of a shared underlying embryologic mechanism. ( J Child Neurol 1997;12:101-106).
Barbiturate Anticonvulsants: A Neuropsychological and Quantitative Electroencephalographic Study
Authors: Willis John , Nelson Arden , Black F. William , Borges Alicia , An Arthur , Rice Janet
Published: December 2008

We studied 11 epileptic children aged 7 to 14 years with quantitative electroencephalographic (EEG) and neuropsychological tests, both on and off the barbiturate anticonvulsants phenobarbital and mephobarbital, comparing them to 13 controls matched for age and IQ who received testing at similar intervals. Neuropsychological tests employed were the Wechsler Intelligence Scale for Children-Revised (WISC-R), Bender-Gestalt, controlled oral word association test (COWAT), selected subtests of the Wechsler Memory Scale-Revised, Purdue Peg Board, Stroop Test, Trail Making Test, Wide Range Achievement Test-Revised, and Achenbach Behavior Rating Scale. There was no difference between on- and off-drug quantitative EEG in percentage power of any frequency band between 0.6 and 32 Hz. Neuropsychological data from all 11 subjects were analyzed with a two-factor analysis of variance with repeated measures on the time factor. The only difference from controls was on the Stroop Test. Parents reported clear behavioral changes in 6 of 11 subjects, but in 4 of these children the behavioral changes were sufficiently mild that parents chose to continue the barbiturate anticonvulsants: irritability, oppositional attitude, and overactivity were described. Mephobarbital was reported by parents to cause less severe problems than phenobarbital in subjects who had taken both barbiturate anticonvulsants. Barbiturate anticonvulsants have no effect on quantitative EEG and limited effects on neuropsychological tests in school-aged children. (J Child Neurol 1997;12:169-171).
Ischemic Cerebrovascular Disease in Children: Retrospective Study of 35 Patients
Authors: Mancini Josette , Girard Nadine , Chabrol Brigitte , Lamoureux Sylvie , Livet Marie-Odile , Thuret Isabelle , Pinsard Nicole
Published: December 2008

A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some are acquired and others are congenital. Twenty-eight associated conditions (80%) were found in our patients and we identified 17 specific causes (48.5%) among them. The cause of stroke in children is important to recognize because stroke is likely to recur depending on the etiology. (J Child Neurol 1997;12:193-199).
Recurrent Cerebellar Gliomas: Salvage Therapy With Oral Etoposide
Authors: Chamberlain Marc C.
Published: December 2008

The purpose of this investigation was to assess the toxicity and activity of chronic oral etoposide in the management of children with recurrent juvenile pilocytic cerebellar astrocytomas. Twelve children with recurrent juvenile pilocytic cerebellar astrocytomas, refractory to surgical resection, radiotherapy, and chemotherapy were treated with chronic oral etoposide. Treatment related complications included alopecia, diarrhea, weight loss, and thrombocytopenia. Three children required transfusion and one child developed neutropenic fever. No treatment related deaths occurred. Six children demonstrated either a radiographic response or stable disease with a median duration of 7 months. Oral etoposide was well tolerated, produced modest toxicity, and had apparent activity in this small cohort of children with recurrent juvenile pilocytic cerebellar astrocytomas. (J Child Neurol 1997;12:200-204).
Interactions of Clobazam With Conventional Antiepileptics in Children
Authors: Theis Jochen G.W. , Koren Gideon , Daneman Richard , Sherwin Allan L. , Menzano Enrique , Cortez Miguel , Hwang Paul
Published: December 2008

Clobazam is a 1,5-benzodiazepine effective in antiepileptic therapy of children and adults. Presently it is mainly used as adjuvant therapy for intractable seizures. Our objective was to evaluate the effect of clobazam on the apparent clearance of other antiepileptic drugs at steady state, and to determine the factors that determine the plasma levels of clobazam and its active metabolite N-desmethylclobazam. Patients were 74 children with intractable seizures who received treatment with clobazam at our institution as part of the Canadian Cooperative Clobazam Study Group during the years 1987 to 1991. Serum concentrations of clobazam, N-desmethylclobazam, and of concomitant antiepileptic drugs were monitored and prospectively collected. The effect of clobazam treatment on the apparent clearance steady state of the other antiepileptic drugs was determined by statistical comparison of the clearances of each drug before and after initiation of clobazam treatment using Wilcoxon's signed rank test. The effects of dosage, age, and concomitant antiepileptic therapy on the levels of clobazam and N-desmethylclobazam was assessed by multivariate analysis. Response to treatment and incidence of adverse effects were evaluated for each conventional antiepileptic drug to possibly identify favorable or unfavorable combinations with clobazam. Whereas the clearances of most conventional antiepileptics are not affected by cotherapy with clobazam, the apparent clearances of valproic acid and primidone are significantly reduced in the presence of clobazam. Serum concentrations of clobazam increased with dosage and age, and decreased with phenobarbital cotherapy. Serum concentrations of N-desmethylclobazam significantly correlated with clobazam serum levels, age, or clobazam dosage and were significantly increased by cotherapy with phenytoin or carbamazepine. None of the concomitantly used drugs were associated with increased or decreased rate of seizure control. Twelve patients experienced mild adverse drug effects that were not associated with particular cotherapy, clobazam dose, or plasma concentrations. When clobazam is added to a therapy regimen that includes valproic acid, the patient should be closely followed for possible adverse drug reactions caused by elevated valproic acid serum concentrations, and monitoring of valproate serum levels should be considered. When clobazam doses are gradually increased to achieve an optimal clinical effect, the interactions with phenobarbital, carbamazepine, and phenytoin do not necessitate therapeutic drug monitoring of clobazam or N-desmethylclobazam, because there is a large therapeutic window and a poor correlation between plasma concentrations and therapeutic efficacy. (J Child Neurol 1997; 12:208-213).
Topical Review: Pediatric Noninvasive Nasal Ventilation
Authors: Bimkrant David J. , Pope John F. , Eiben Robert M.
Published: December 2008

Noninvasive nasal ventilation is an effective but underutilized method of chronic respiratory support for patients with respiratory insufficiency due to neuromuscular disease. Noninvasive nasal ventilation corrects nocturnal hypoxia and hypercapnia, resolving symptoms of chronic alveolar hypoventilation. Noninvasive nasal ventilation can allow selected patients with acute respiratory failure to avoid intubation and it can facilitate endotracheal extubation. Practical guidelines and the rationale for pediatric noninvasive nasal ventilation therapy will be discussed in this review. (J Child Neurol 1997;12:231-236).
Argininemia: A Treatable Genetic Cause of Progressive Spastic Diplegia Simulating Cerebral Palsy: Case Reports and Literature Review
Authors: Prasad Asuri N. , Breen Joan C. , Ampola Mary G. , Rosman N. Paul
Published: December 2008

Argininemia, a rare autosomal recessive urea cycle disorder, is caused by a deficiency of arginase, with resulting elevated plasma arginine and ammonia levels. Reports to date have focused little on the neurology of this disorder or the efficacy of treatments. A MEDLINE search revealed 25 previously reported cases, to which we have added two brothers who presented with late onset progressive spastic diplegia. Though their degree of enzyme deficiency was comparable, the severity of their phenotypic abnormalities differed substantially. With dietary therapy, both showed improved cognitive and motor function. Late metabolic crises occurred in both, resulting in death of the less severely affected brother. Based on analysis of our clinical database, we report on the full spectrum of neurologic abnormalities seen in argininemia with particular focus on the accompanying progressive spastic diplegia and its response to treatment; progressive decline in head growth; distinctive neuroradiologic findings; and life-threatening later complications. Current and potential future therapies and long-term outcome are summarized. ( J Child Neurol 1997;12:301-309).
Gene Deletions in Arab Patients With Spinal Muscular Atrophy
Authors: Haider Mohammad Z. , Moosa Allie
Published: December 2008

Spinal muscular atrophy is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have investigated the presence of survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletions in 17 Arab and 1 Indian families with spinal muscular atrophy (15 type I and 3 type II). Homologous deletions were detected in exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene in all patients with type I spinal muscular atrophy. Exon 13 of the neuronal apoptosis inhibitory protein gene was deleted in only one patient with type I spinal muscular atrophy. In two patients with type II spinal muscular atrophy, only exons 7 and 8 of the survival motor neuron gene were deleted whereas exons 5 and 13 of the neuronal apoptosis inhibitory protein gene were present. In another patient with spinal muscular atrophy type II, exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene were deleted. This latter patient also had the Pierre Robin syndrome. No deletion was detected in healthy siblings or the parents. The deletions found in our patients are similar to those reported in other population groups. ( J Child Neurol 1997;12:310-313).
Correlation Between Gadolinium-Diethylenetriaminepentaacetic Acid Contrast Enhancement and Thallium-201 Chloride Uptake in Pediatric Brainstem Glioma
Authors: Maria Bernard L. , Drane Walter B. , Quisling Ronald J. , Hoang Karin B. N.
Published: December 2008

We previously showed that thallium-201 (201Tl) chloride is accumulated in over 75% of brain tumors, including brainstem gliomas. The imaging of 201Tl with single photon emission computed tomography (SPECT) may require an abnormal increase in permeability of tumor vessels to allow penetration of the blood-brain barrier. To test this hypothesis, we evaluated the correlation between gadolinium enhancement and the degree of 201T1 uptake on SPECT and the contributions of either gadolinium enhancement or 201Tl uptake to the prognosis in children with brainstem gliomas. Forty-two sets of paired SPECT scans and magnetic resonance imaging (MRI) scans were obtained longitudinally in 13 cases. Altogether, 31 of 42 pairs (74%) of scans showed concordance between the presence of gadolinium enhancement and 201Tl uptake. There were no cases that demonstrated 201Tl uptake but lacked gadolinium enhancement. The results indicate that 201Tl SPECT is of value primarily when brainstem tumors have vessels that are demonstrably permeable to gadolinium, prior to or as a result of radiotherapy. (J Child Neurol 1997; 12:341-348).
Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a Second Family
Authors: Maller Alfreda , Hyland Keith , Milstien Sheldon , Biaggioni Italo , Butler Ian J.
Published: December 2008

Aromatic L-amino acid decarboxylase deficiency is an inborn error of metabolism that leads to combined serotonin and catecholamine deficiency, first described by Hyland et al in 1990. The clinical features, biochemical findings, and treatment of the second family with this condition are reported. Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. The diagnosis of this inborn error of biogenic amine metabolism was accomplished by determining low concentrations of homovanillic, 5-hydroxyindoleacetic acid, and 3-methoxy-4-hydroxyphenyl-ethyleneglycol in cerebrospinal fluid with normal biopterin metabolism and increased L-dopa, in plasma, cerebrospinal fluid, and urine. Greatly reduced activity of aromatic L-amino acid decarboxylase in plasma confirmed this diagnosis. Combined treatment with pyridoxine, tranylcypromine, and bromocriptine produced some clinical improvement. (J Child Neurol 1997;12:349-354).
Rett Syndrome: An Analysis Using Sartwell's Incubation Period Model
Authors: Kozinetz Claudia A. , Skender Martha L. , MacNaughton Nancy L. , del Junco Deborah J. , Yamamura Yuko
Published: December 2008

Evidence suggests that Rett syndrome is a genetic disorder; however, an etiologic genetic model has yet to be identified. The purpose of this study was to apply a statistical model, Sartwell's incubation period model, to estimate the incubation period of Rett syndrome and postulate further on the etiology of Rett syndrome. Sartwell's model was used to test the hypothesis that the age of onset of developmental regression distributions approximate a logarithmic normal model and thus the etiologic factors of Rett syndrome occur in utero or prior to conception. Data from three case-series of Rett syndrome from different geographic regions were used for the analyses. Curves resulting from the analyses demonstrated a good approximation to the logarithmic normal distribution, indicating a good fit of the data to Sartwell's model. In conclusion, the incubation period of Rett syndrome fits the logarithmic normal model, which is consistent with the theory that a major causal factor for Rett syndrome most likely occurs in utero or prior to conception, eg, a defective gene. (J Child Neurol 1997;12:361-364).
Intravenous Immunoglobulin as Therapy for Pediatric Guillain-Barré Syndrome
Authors: Abd-Allah Shamel A. , Jansen Paul W. , Ashwal Stephen , Perkin Ronald M.
Published: December 2008

Seven children with Guillain-Barré syndrome were treated with intravenous immunoglobulin. Median patient age was 5.8 years. A standard dosage of 0.4 g/kg/day for 5 days was administered. Clinical improvement occurred on average within 2.4 ± 1.3 days of beginning intravenous immunoglobulin. One child required mechanical ventilation for 7 days. Eight comparable children with Guillain-Barré syndrome at our institution in a prior study treated with plasmapheresis alone had similar clinical results. However, the need for admission to the pediatric intensive care unit and duration of pediatric intensive care unit stay were lower in the intravenous immunoglobulin treated group (P < .05). There were no complications with intravenous immunoglobulin therapy except for a brief episode of hypotension in one patient. Review of the literature identified 74 additional children with Guillain-Barré syndrome successfully receiving intravenous immunoglobulin therapy. We suggest intravenous immunoglobulin as initial therapy for pediatric Guillain-Barré syndrome, because it appears equally as effective as plasmapheresis and is associated with fewer complications. (J Child Neurol 1997;12:376-380).