Recent items - Journal of Child Neurology recent issues
Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy
04/09/2010 01:01
The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are [...]
04/09/2010 01:01
The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are [...]
Classification of the Gait Patterns of Boys With Duchenne Muscular Dystrophy and Their Relationship to Function
04/09/2010 01:01
Corticosteroids have recently been shown to reduce expected loss of muscle strength in patients with Duchenne muscular dystrophy and extend the time they can walk. We evaluated 43 boys with the condition to determine whether taking corticosteroids is associated with differences in gait pattern, gross motor skills, energy efficiency, and timed motor performance. We used the gait deviation index to quantify the degree of gait pathology and a single measure of gait quality. There were minimal diff [...]
04/09/2010 01:01
Corticosteroids have recently been shown to reduce expected loss of muscle strength in patients with Duchenne muscular dystrophy and extend the time they can walk. We evaluated 43 boys with the condition to determine whether taking corticosteroids is associated with differences in gait pattern, gross motor skills, energy efficiency, and timed motor performance. We used the gait deviation index to quantify the degree of gait pathology and a single measure of gait quality. There were minimal diff [...]
Cardiac and Pulmonary Function Variability in Duchenne/Becker Muscular Dystrophy: An Initial Report
04/09/2010 01:01
The Duchenne and Becker forms of muscular dystrophy are associated with dilated cardiomyopathy and are diseases in which pulmonary function peaks and then progressively declines. In this report, the authors quantify cardiopulmonary function variability among brothers. Brothers in 3 of 7 eligible sibships had discordant pulmonary function, with significant differences between the brothers’ peak forced vital capacities and their vital capacities at last comparable age. There was no relation [...]
04/09/2010 01:01
The Duchenne and Becker forms of muscular dystrophy are associated with dilated cardiomyopathy and are diseases in which pulmonary function peaks and then progressively declines. In this report, the authors quantify cardiopulmonary function variability among brothers. Brothers in 3 of 7 eligible sibships had discordant pulmonary function, with significant differences between the brothers’ peak forced vital capacities and their vital capacities at last comparable age. There was no relation [...]
Change in Natural History of Duchenne Muscular Dystrophy With Long-term Corticosteroid Treatment: Implications for Management
04/09/2010 01:01
In 2005, the American Academy of Neurology and the Child Neurology Society published a practice parameter, based primarily on studies that involved 6 to 18 months of treatment, indicating that prednisone has a beneficial effect on muscle strength and function in patients with Duchenne muscular dystrophy and recommended that corticosteroids be offered (prednisone 0.75 mg/kg/d and deflazacort 0.9 mg/kg/d) as treatment. Recent reports emphasize that longer term treatment with corticosteroids (grea [...]
04/09/2010 01:01
In 2005, the American Academy of Neurology and the Child Neurology Society published a practice parameter, based primarily on studies that involved 6 to 18 months of treatment, indicating that prednisone has a beneficial effect on muscle strength and function in patients with Duchenne muscular dystrophy and recommended that corticosteroids be offered (prednisone 0.75 mg/kg/d and deflazacort 0.9 mg/kg/d) as treatment. Recent reports emphasize that longer term treatment with corticosteroids (grea [...]
Relationship Between Clinical Outcome Measures and Parent Proxy Reports of Health-Related Quality of Life in Ambulatory Children With Duchenne Muscular Dystrophy
04/09/2010 01:01
In Duchenne muscular dystrophy, data directly linking changes in clinical outcome measures to patient-perceived well-being are lacking. This study evaluated the relationship between clinical outcome measures used in clinical trials of ambulatory Duchenne muscular dystrophy (Vignos functional grade, quantitative knee extension strength, timed functional performance measures, and gait velocity) and 2 health-related quality of life measures—the Pediatric Outcomes Data Collection Instrument a [...]
04/09/2010 01:01
In Duchenne muscular dystrophy, data directly linking changes in clinical outcome measures to patient-perceived well-being are lacking. This study evaluated the relationship between clinical outcome measures used in clinical trials of ambulatory Duchenne muscular dystrophy (Vignos functional grade, quantitative knee extension strength, timed functional performance measures, and gait velocity) and 2 health-related quality of life measures—the Pediatric Outcomes Data Collection Instrument a [...]
Molecular Therapeutic Strategies Targeting Duchenne Muscular Dystrophy
04/09/2010 01:01
Since the discovery of the gene for Duchenne muscular dystrophy more than 20 years ago, scientists have worked to apply molecular principles for restoration of the dystrophin protein and correction of the underlying physiologic defect that predisposes muscle fibers to injury. Recent studies provide realistic hope that molecular therapies may help patients who have this disorder. At present, only corticosteroids can improve walking ability and increase quality of life for boys with this disease. [...]
04/09/2010 01:01
Since the discovery of the gene for Duchenne muscular dystrophy more than 20 years ago, scientists have worked to apply molecular principles for restoration of the dystrophin protein and correction of the underlying physiologic defect that predisposes muscle fibers to injury. Recent studies provide realistic hope that molecular therapies may help patients who have this disorder. At present, only corticosteroids can improve walking ability and increase quality of life for boys with this disease. [...]
Preclinical Studies for Gene Therapy of Duchenne Muscular Dystrophy
04/09/2010 01:01
The muscular dystrophies are a diverse group of genetic disorders without an effective treatment. Because they are caused by mutations in various genes, the most direct way to treat them involves correcting the underlying gene defect (ie, gene therapy). Such a gene therapy approach involves delivering a therapeutic gene cassette to essentially all the muscles of the body in a safe and efficacious manner. The authors describe gene delivery methods using vectors derived from adeno-associated viru [...]
04/09/2010 01:01
The muscular dystrophies are a diverse group of genetic disorders without an effective treatment. Because they are caused by mutations in various genes, the most direct way to treat them involves correcting the underlying gene defect (ie, gene therapy). Such a gene therapy approach involves delivering a therapeutic gene cassette to essentially all the muscles of the body in a safe and efficacious manner. The authors describe gene delivery methods using vectors derived from adeno-associated viru [...]
Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)
04/09/2010 01:01
Nucleotide changes within an exon can alter the trinucleotide normally encoding a particular amino acid, such that a new ‘‘stop’’ signal is transcribed into the mRNA open reading frame. This causes the ribosome to prematurely terminate its reading of the mRNA, leading to nonsense-mediated decay of the transcript and lack of production of a normal full-length protein. Such premature termination codon mutations occur in an estimated 10% to 15% of many genetically based dis [...]
04/09/2010 01:01
Nucleotide changes within an exon can alter the trinucleotide normally encoding a particular amino acid, such that a new ‘‘stop’’ signal is transcribed into the mRNA open reading frame. This causes the ribosome to prematurely terminate its reading of the mRNA, leading to nonsense-mediated decay of the transcript and lack of production of a normal full-length protein. Such premature termination codon mutations occur in an estimated 10% to 15% of many genetically based dis [...]
The Potential of Exon Skipping for Treatment for Duchenne Muscular Dystrophy
04/09/2010 01:01
Duchenne muscular dystrophy is mainly caused by mutations that disrupt the generation of a translatable mRNA transcript. Most such mutations occur in parts of the gene that are not essential for its function and thus might be eliminated from the transcript to permit translation of a partially functional protein that would convert the disease to a milder clinical form. Two such antisense oligonucleotides of different backbone chemistries have been successful when tested on the mdx mouse, targeti [...]
04/09/2010 01:01
Duchenne muscular dystrophy is mainly caused by mutations that disrupt the generation of a translatable mRNA transcript. Most such mutations occur in parts of the gene that are not essential for its function and thus might be eliminated from the transcript to permit translation of a partially functional protein that would convert the disease to a milder clinical form. Two such antisense oligonucleotides of different backbone chemistries have been successful when tested on the mdx mouse, targeti [...]
Weight Gain and Insulin Resistance in Children Treated With Valproate: The Influence of Time
29/08/2010 00:49
This study was undertaken in 2 parts to investigate the relationship between body size and insulin resistance during treatment with valproic acid in children. The cross-sectional part revealed differences in terms of body size and homeostasis model assessment of insulin resistance, which were higher in the group on medication. The longitudinal part showed a major increase in body size and insulin resistance during the first year of therapy. There was a subsequent decrease in insulin resistance [...]
29/08/2010 00:49
This study was undertaken in 2 parts to investigate the relationship between body size and insulin resistance during treatment with valproic acid in children. The cross-sectional part revealed differences in terms of body size and homeostasis model assessment of insulin resistance, which were higher in the group on medication. The longitudinal part showed a major increase in body size and insulin resistance during the first year of therapy. There was a subsequent decrease in insulin resistance [...]
Outcomes in Treatment of Infantile Spasms With Pulse Methylprednisolone
29/08/2010 00:49
The authors report their experience with intravenous methylprednisolone for the treatment of infantile spasms. A pulse dose of 20 mg/kg intravenous methylprednisolone on each of 3 successive days, followed by a 2-month oral prednisolone taper, led to the rapid remission (range, 2-6 days) of infantile spasms in 5 of 10 (50%) infants. In the subgroup of infants treated within 1 month of onset, 5 of 6 (83%) experienced remission within 6 days. The authors estimate the medication cost of intravenou [...]
29/08/2010 00:49
The authors report their experience with intravenous methylprednisolone for the treatment of infantile spasms. A pulse dose of 20 mg/kg intravenous methylprednisolone on each of 3 successive days, followed by a 2-month oral prednisolone taper, led to the rapid remission (range, 2-6 days) of infantile spasms in 5 of 10 (50%) infants. In the subgroup of infants treated within 1 month of onset, 5 of 6 (83%) experienced remission within 6 days. The authors estimate the medication cost of intravenou [...]
Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency
29/08/2010 00:49
We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises, myopat [...]
29/08/2010 00:49
We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises, myopat [...]
Neurodevelopmental Outcomes in Neonates With Seizures: A Numerical Score of Background Encephalography to Help Prognosticate
29/08/2010 00:49
There is a high incidence of mortality and neurodevelopmental sequelae in babies with neonatal seizures. The electroencephalography (EEG) background has been shown to be an excellent predictor of outcome by most studies, with a few suggesting limited value in prognostication. Previous studies suggest poor prognosis with severely abnormal backgrounds, but prediction was difficult with moderate abnormalities. The proposed numerical scoring system for the EEG background provides an objective metho [...]
29/08/2010 00:49
There is a high incidence of mortality and neurodevelopmental sequelae in babies with neonatal seizures. The electroencephalography (EEG) background has been shown to be an excellent predictor of outcome by most studies, with a few suggesting limited value in prognostication. Previous studies suggest poor prognosis with severely abnormal backgrounds, but prediction was difficult with moderate abnormalities. The proposed numerical scoring system for the EEG background provides an objective metho [...]
Botulinum Toxin Injections for Pediatric Patients With Hereditary Spastic Paraparesis
29/08/2010 00:49
Limited information is available on the use of botulinum toxin type A injections for children with hereditary spastic paraplegia. This report includes 12 children with hereditary spastic paraplegia (mean age 4.8 ± 2.5 years) who underwent 1 to 6 sessions of botulinum toxin A injections to the hamstrings, adductors and gastrocnemius muscles. Patients showed both improved muscle tone (mean 1.9 ± 0.5 vs 1.18 ± 0.33, P < .001, Ashworth Scale) and motor function (75.3 ± [...]
29/08/2010 00:49
Limited information is available on the use of botulinum toxin type A injections for children with hereditary spastic paraplegia. This report includes 12 children with hereditary spastic paraplegia (mean age 4.8 ± 2.5 years) who underwent 1 to 6 sessions of botulinum toxin A injections to the hamstrings, adductors and gastrocnemius muscles. Patients showed both improved muscle tone (mean 1.9 ± 0.5 vs 1.18 ± 0.33, P < .001, Ashworth Scale) and motor function (75.3 ± [...]
Diffusion Tensor Imaging Analysis of Frontal Lobes in Pediatric Traumatic Brain Injury
29/08/2010 00:49
This study examined the use of diffusion tensor imaging in detecting white matter changes in the frontal lobes following pediatric traumatic brain injury. A total of 46 children (ages 8-16 years) with moderate to severe traumatic brain injury and 47 children with orthopedic injury underwent 1.5 Tesla magnetic resonance imaging (MRI) at 3 months postinjury. Conventional MRI studies were obtained along with diffusion tensor imaging. Diffusion tensor imaging metrics, including fractional anisotrop [...]
29/08/2010 00:49
This study examined the use of diffusion tensor imaging in detecting white matter changes in the frontal lobes following pediatric traumatic brain injury. A total of 46 children (ages 8-16 years) with moderate to severe traumatic brain injury and 47 children with orthopedic injury underwent 1.5 Tesla magnetic resonance imaging (MRI) at 3 months postinjury. Conventional MRI studies were obtained along with diffusion tensor imaging. Diffusion tensor imaging metrics, including fractional anisotrop [...]
Atypical Propositional Language Organization in Prenatal and Early-Acquired Temporal Lobe Lesions
29/08/2010 00:49
This study investigated differences in propositional language organization in children with developmental and acquired brain lesions. We evaluated 30 right-handed subjects with intractable epilepsy due to either focal cortical dysplasia or hippocampal sclerosis with neuropsychological testing and functional MRI prior to epilepsy surgery. Atypical activations were seen in both prenatal and early postnatal lesions, but the contribution of specific histopathological substrate was minimal. Atypical [...]
29/08/2010 00:49
This study investigated differences in propositional language organization in children with developmental and acquired brain lesions. We evaluated 30 right-handed subjects with intractable epilepsy due to either focal cortical dysplasia or hippocampal sclerosis with neuropsychological testing and functional MRI prior to epilepsy surgery. Atypical activations were seen in both prenatal and early postnatal lesions, but the contribution of specific histopathological substrate was minimal. Atypical [...]
Midazolam or Diazepam Administration During Electroencephalography Helps to Diagnose Subacute Sclerosing Panencephalitis (SSPE)
29/08/2010 00:49
Although diagnostic contribution of intravenous diazepam administration during electroencephalography (EEG) recording in subacute sclerosing panencephalitis has been known, no another drug with less potential side effects has been studied in this procedure. In this study, diazepam is compared with midazolam in 25 subacute sclerosing panencephalitis-diagnosed children and 10 children with subacute sclerosing panencephalitis-suggesting symptoms, normal EEG findings and no certain diagnosis. Neith [...]
29/08/2010 00:49
Although diagnostic contribution of intravenous diazepam administration during electroencephalography (EEG) recording in subacute sclerosing panencephalitis has been known, no another drug with less potential side effects has been studied in this procedure. In this study, diazepam is compared with midazolam in 25 subacute sclerosing panencephalitis-diagnosed children and 10 children with subacute sclerosing panencephalitis-suggesting symptoms, normal EEG findings and no certain diagnosis. Neith [...]
Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome
29/08/2010 00:49
Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy), allowing to avoid tissue biopsies. Hypocitrullinemia, an occasional finding in mitochondrial diseases, has been specifically associated with T8 [...]
29/08/2010 00:49
Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy), allowing to avoid tissue biopsies. Hypocitrullinemia, an occasional finding in mitochondrial diseases, has been specifically associated with T8 [...]
A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjogren-Larsson Syndrome
29/08/2010 00:49
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glisteni [...]
29/08/2010 00:49
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glisteni [...]
Idiopathic Intracranial Hypertension in Two Patients With Alagille Syndrome
29/08/2010 00:49
Alagille syndrome is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and skeletal abnormalities. In addition, the association of Alagille syndrome with ocular abnormalities is well known and is considered one of the characteristic features of this condition. Most commonly, posterior embryotoxon, glaucoma, or retinopathy has been identified in these children. The authors present 2 patients with Alagille syndrome who, before the age of 3 [...]
29/08/2010 00:49
Alagille syndrome is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and skeletal abnormalities. In addition, the association of Alagille syndrome with ocular abnormalities is well known and is considered one of the characteristic features of this condition. Most commonly, posterior embryotoxon, glaucoma, or retinopathy has been identified in these children. The authors present 2 patients with Alagille syndrome who, before the age of 3 [...]
X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder
29/08/2010 00:49
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a patient who was initially suspected of having a mitochondrial disorder but was later found to have a creatine transporter defect. The abnormal laboratory study results seen in this patient suggesting [...]
29/08/2010 00:49
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a patient who was initially suspected of having a mitochondrial disorder but was later found to have a creatine transporter defect. The abnormal laboratory study results seen in this patient suggesting [...]
Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth Disease
29/08/2010 00:49
X-linked hereditary demyelinating neuropathy (Charcot-Marie-Tooth 1X) accounts for 10% to 20% of all hereditary demyelinating neuropathies and is caused by mutations in the GJB1 gene, which codes for connexin 32. Connexin 32 is a gap junction protein widely expressed in Schwann cells as well as oligodendrocytes. Transient leukoencephalopathy has been reported in children and adults with Charcot-Marie-Tooth 1X. The case of a previously healthy 10-year-old boy who presented with fluctuating neuro [...]
29/08/2010 00:49
X-linked hereditary demyelinating neuropathy (Charcot-Marie-Tooth 1X) accounts for 10% to 20% of all hereditary demyelinating neuropathies and is caused by mutations in the GJB1 gene, which codes for connexin 32. Connexin 32 is a gap junction protein widely expressed in Schwann cells as well as oligodendrocytes. Transient leukoencephalopathy has been reported in children and adults with Charcot-Marie-Tooth 1X. The case of a previously healthy 10-year-old boy who presented with fluctuating neuro [...]
Posterior Subcapsular Cataracts in Children Receiving Adrenocorticotropic Hormone (ACTH) for Infantile Spasms
29/08/2010 00:49
Posterior subcapsular cataract is a well-known complication of corticosteroid treatment. While this association has not been established for adrenocorticotropic hormone (ACTH) treatment, similar side effects would be expected for the 2 drugs given the mechanism of ACTH, which stimulates glucocorticoid synthesis and secretion. The authors report 2 children who were treated with ACTH for infantile spasms who developed bilateral posterior subcapsular cataracts. The authors recommend that children [...]
29/08/2010 00:49
Posterior subcapsular cataract is a well-known complication of corticosteroid treatment. While this association has not been established for adrenocorticotropic hormone (ACTH) treatment, similar side effects would be expected for the 2 drugs given the mechanism of ACTH, which stimulates glucocorticoid synthesis and secretion. The authors report 2 children who were treated with ACTH for infantile spasms who developed bilateral posterior subcapsular cataracts. The authors recommend that children [...]
Schizencephaly: Pre- and Postnatal Magnetic Resonance Imaging
29/08/2010 00:49
Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral ventricles to the pial lining of the cortex. The authors present the case of a female patient with a prenatal diagnosis made by magnetic resonance imaging (MRI), her clinical course, and neurorradiological evolution following birth. A 6-year-old female, with right open lip schizencephaly, was diagnosed by means of prenatal cerebral magneti [...]
29/08/2010 00:49
Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral ventricles to the pial lining of the cortex. The authors present the case of a female patient with a prenatal diagnosis made by magnetic resonance imaging (MRI), her clinical course, and neurorradiological evolution following birth. A 6-year-old female, with right open lip schizencephaly, was diagnosed by means of prenatal cerebral magneti [...]
Spinal Cord Infarction Due to Fibrocartilaginous Embolization: The Role of Diffusion Weighted Imaging and Short-Tau Inversion Recovery Sequences
29/08/2010 00:49
Fibrocartilaginous embolization is a rare cause of ischemic myelopathy caused by embolization of intersomatic disk nucleus pulposus into spinal vasculature during Valsalva-like maneuvers. Diagnostic criteria are based on patient’s clinical history, magnetic resonance evidence of T2-hyperintense spinal cord lesion, and exclusion of other causes of ischemic myelopathy. These criteria do not take into account the development of magnetic resonance techniques able to enhance signal abnormaliti [...]
29/08/2010 00:49
Fibrocartilaginous embolization is a rare cause of ischemic myelopathy caused by embolization of intersomatic disk nucleus pulposus into spinal vasculature during Valsalva-like maneuvers. Diagnostic criteria are based on patient’s clinical history, magnetic resonance evidence of T2-hyperintense spinal cord lesion, and exclusion of other causes of ischemic myelopathy. These criteria do not take into account the development of magnetic resonance techniques able to enhance signal abnormaliti [...]
Transient Basal Ganglia and Thalamic Involvement Following Mycoplasma pneumoniae Infection Associated With Antiganglioside Antibodies
29/08/2010 00:49
A case of acute and reversible bilateral basal ganglia with thalami involvement associated with serological evidence of Mycoplasma pneumoniae infection is reported. Increased titers of immunoglobulin M antibodies against GM1 ganglioside components were found during an acute phase of neurological illness. Brain magnetic resonance imaging (MRI) showed bilateral involvement of the basal ganglia and thalamus, which disappeared 1 month later. The child recovered fully after corticosteroid and immuno [...]
29/08/2010 00:49
A case of acute and reversible bilateral basal ganglia with thalami involvement associated with serological evidence of Mycoplasma pneumoniae infection is reported. Increased titers of immunoglobulin M antibodies against GM1 ganglioside components were found during an acute phase of neurological illness. Brain magnetic resonance imaging (MRI) showed bilateral involvement of the basal ganglia and thalamus, which disappeared 1 month later. The child recovered fully after corticosteroid and immuno [...]
Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid {alpha}-Glucosidase Gene
29/08/2010 00:49
Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid -glucosidase gene. Late-onset GSD2 resembles some limb-girdle and Becker muscular dystrophies. The screening of GSD2 through the measurement of acid -glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. Only 1 male patient showed a low level of acid -glucosidase activity a [...]
29/08/2010 00:49
Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid -glucosidase gene. Late-onset GSD2 resembles some limb-girdle and Becker muscular dystrophies. The screening of GSD2 through the measurement of acid -glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. Only 1 male patient showed a low level of acid -glucosidase activity a [...]
Morvan Syndrome Following B-cell Lymphoma
29/08/2010 00:49
Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lymphoma, who presented with multiple asynchronous fasciculations of the long muscles of his lower extremities accompanied by numbness. The patient responded initially to pulse corticost [...]
29/08/2010 00:49
Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lymphoma, who presented with multiple asynchronous fasciculations of the long muscles of his lower extremities accompanied by numbness. The patient responded initially to pulse corticost [...]
Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation
29/08/2010 00:49
Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3'UTR of the MECP2 gene. We also detected in another pati [...]
29/08/2010 00:49
Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3'UTR of the MECP2 gene. We also detected in another pati [...]
Ischemic Stroke in a 7-Month-Old Infant With Antiphospholipid Antibody and Homozygous C677T Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism
29/08/2010 00:49
Prothrombotic risk factors in children with ischemic stroke have been increasingly recognized with recent developments in technology. Extensive evaluation including a detailed family history is required to identify various inherited or acquired prothrombotic conditions. We report a 7-month-old male who presented with right hemiparesis. Acute cerebral infarction in the area supplied by the left lenticulostriate artery was confirmed through magnetic resonance imaging. De novo synthesis of antipho [...]
29/08/2010 00:49
Prothrombotic risk factors in children with ischemic stroke have been increasingly recognized with recent developments in technology. Extensive evaluation including a detailed family history is required to identify various inherited or acquired prothrombotic conditions. We report a 7-month-old male who presented with right hemiparesis. Acute cerebral infarction in the area supplied by the left lenticulostriate artery was confirmed through magnetic resonance imaging. De novo synthesis of antipho [...]
Acute Transient Deafness Representing a Negative Epileptic Phenomenon
17/08/2010 03:07
We report herein 2 children who presented with acute deafness heralding an epileptic event manifesting thereafter by loss of consciousness and tonic generalized posturing, possibly reflecting a negative epileptic phenomenon. The first previously healthy male had 2 paroxysmal episodes 7 months apart, starting with acute deafness lasting for a few minutes followed by loss of consciousness and generalized tonic posturing for 10 minutes. Electroencephalography (EEG) during the second episodes demon [...]
17/08/2010 03:07
We report herein 2 children who presented with acute deafness heralding an epileptic event manifesting thereafter by loss of consciousness and tonic generalized posturing, possibly reflecting a negative epileptic phenomenon. The first previously healthy male had 2 paroxysmal episodes 7 months apart, starting with acute deafness lasting for a few minutes followed by loss of consciousness and generalized tonic posturing for 10 minutes. Electroencephalography (EEG) during the second episodes demon [...]
Book Review: Douglas C. Miller Modern Surgical Neuropathology. 1st ed. New York, NY: Cambridge University Press. 2009. $235.00. ISBN 9780521869324
17/08/2010 03:07
17/08/2010 03:07
Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy
17/08/2010 03:07
Sudden unexpected death in epilepsy is the sudden, unexplained, unexpected death of an individual with epilepsy in which postmortem examination does not reveal an anatomic or toxicologic cause of death. Patients with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia have been frequently initially diagnosed with epilepsy. A cardiac channel molecular autopsy of the common long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-susceptibility [...]
17/08/2010 03:07
Sudden unexpected death in epilepsy is the sudden, unexplained, unexpected death of an individual with epilepsy in which postmortem examination does not reveal an anatomic or toxicologic cause of death. Patients with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia have been frequently initially diagnosed with epilepsy. A cardiac channel molecular autopsy of the common long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-susceptibility [...]
Propriospinal Myoclonus in a Child
17/08/2010 03:07
A 6-year-old girl was experiencing repetitive involuntary and massive jerks immediately involving limbs and trunk. The first motor events appeared approximately at 1 year old and only 5 months after a back trauma. Myoclonus became progressively more frequent and more violent, causing episodes of falls. Neurological examination showed jerks characterized by upper limb abduction, lower limb abduction, and head—body hyperextension. Apart from these motor events, the neurological examination [...]
17/08/2010 03:07
A 6-year-old girl was experiencing repetitive involuntary and massive jerks immediately involving limbs and trunk. The first motor events appeared approximately at 1 year old and only 5 months after a back trauma. Myoclonus became progressively more frequent and more violent, causing episodes of falls. Neurological examination showed jerks characterized by upper limb abduction, lower limb abduction, and head—body hyperextension. Apart from these motor events, the neurological examination [...]
Melatonin in Epilepsy and Febrile Seizures
17/08/2010 03:07
A study on melatonin rhythm in children with generalized idiopathic epilepsy and simple fever is presented in this article. A population of 40 children was divided into 4 groups, namely, epilepsy, febrile seizure, and 2 control groups. Salivary melatonin was measured by means of radioimmunoassay. Friedman 2-way analysis of variance (ANOVA) and Wilcoxon tests were employed to assess the existence of melatonin rhythm. Comparison across groups was performed by means of ANOVA and Mann-Whitney tests [...]
17/08/2010 03:07
A study on melatonin rhythm in children with generalized idiopathic epilepsy and simple fever is presented in this article. A population of 40 children was divided into 4 groups, namely, epilepsy, febrile seizure, and 2 control groups. Salivary melatonin was measured by means of radioimmunoassay. Friedman 2-way analysis of variance (ANOVA) and Wilcoxon tests were employed to assess the existence of melatonin rhythm. Comparison across groups was performed by means of ANOVA and Mann-Whitney tests [...]
Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation
17/08/2010 03:07
The CACNA1A gene encodes the pore forming alpha-1A subunit of neuronal voltage-dependant P/Q-type Ca 2+ channels. Mutations in this gene result in clinical heterogeneity, and present with either chronic progressive symptoms, paroxysmal events, or both, with clinical overlap among the different phenotypes. The authors describe a seven year-old boy with mental retardation and congenital cerebellar ataxia that developed dyskinesia at the age of a few months, and recurrent episodes of coma followin [...]
17/08/2010 03:07
The CACNA1A gene encodes the pore forming alpha-1A subunit of neuronal voltage-dependant P/Q-type Ca 2+ channels. Mutations in this gene result in clinical heterogeneity, and present with either chronic progressive symptoms, paroxysmal events, or both, with clinical overlap among the different phenotypes. The authors describe a seven year-old boy with mental retardation and congenital cerebellar ataxia that developed dyskinesia at the age of a few months, and recurrent episodes of coma followin [...]
Cerebral Folate Deficiency Presenting as Adolescent Catatonic Schizophrenia: A Case Report
17/08/2010 03:07
Cerebral folate deficiency presents during infancy with irritability, deceleration of head growth, seizures, and progressive cognitive and motor impairment. Although low serum folate levels have been found in patients with schizophrenia, we describe the first case of cerebral folate deficiency presenting as catatonic schizophrenia. A 13-year-old previously healthy boy presented to our hospital with a 17-month history of schizophrenic symptoms with progressively worsening catatonia. On admission [...]
17/08/2010 03:07
Cerebral folate deficiency presents during infancy with irritability, deceleration of head growth, seizures, and progressive cognitive and motor impairment. Although low serum folate levels have been found in patients with schizophrenia, we describe the first case of cerebral folate deficiency presenting as catatonic schizophrenia. A 13-year-old previously healthy boy presented to our hospital with a 17-month history of schizophrenic symptoms with progressively worsening catatonia. On admission [...]
Chronic Active Herpes Simplex Type 2 Encephalitis in an Asymptomatic Immunocompetent Child
17/08/2010 03:07
A unique form of chronic, active, granulomatous herpes simplex type 2 encephalitis is described in an asymptomatic, immunocompetent 8-year-old girl who acquired the virus as a neonate. The extensive, bilateral cerebral parenchymal involvement was discovered incidentally. Diagnosis was confirmed by a combination of serial neuroimaging, brain biopsy, and quantitative polymerase chain reaction targeted to DNA sequences in the glycoprotein G gene, allowing differentiation between herpes simplex vir [...]
17/08/2010 03:07
A unique form of chronic, active, granulomatous herpes simplex type 2 encephalitis is described in an asymptomatic, immunocompetent 8-year-old girl who acquired the virus as a neonate. The extensive, bilateral cerebral parenchymal involvement was discovered incidentally. Diagnosis was confirmed by a combination of serial neuroimaging, brain biopsy, and quantitative polymerase chain reaction targeted to DNA sequences in the glycoprotein G gene, allowing differentiation between herpes simplex vir [...]
Valproic Acid-Associated Vanishing Bile Duct Syndrome
17/08/2010 03:07
Hepatotoxicity as a result of valproic acid therapy is well documented. Elevation in aminotransferase activities is rarely associated with symptoms. It sometimes manifests as acute liver failure. Here, we report a 8-year-old girl who was referred for unresolving jaundice and itching for 3 months. Past history revealed afebrile convulsion 5 months previously and beginning of valproic acid treatment. Valproic acid was discontinued after the development of jaundice. Physical examination revealed i [...]
17/08/2010 03:07
Hepatotoxicity as a result of valproic acid therapy is well documented. Elevation in aminotransferase activities is rarely associated with symptoms. It sometimes manifests as acute liver failure. Here, we report a 8-year-old girl who was referred for unresolving jaundice and itching for 3 months. Past history revealed afebrile convulsion 5 months previously and beginning of valproic acid treatment. Valproic acid was discontinued after the development of jaundice. Physical examination revealed i [...]
Shuddering Attacks Are Not Related to Essential Tremor
17/08/2010 03:07
Shuddering attacks are benign shivering movements occurring in young children. The etiology is unknown; however, a relationship to essential tremor has been postulated. A series of 12 consecutive children were identified over a 6-year period ending January 1, 2007. Shuddering attacks were diagnosed based on descriptive history and videotape review. Their referral diagnosis was epilepsy in 7 (58%) and movement disorder in 5 (42%). The referring physician never suspected the diagnosis. The age of [...]
17/08/2010 03:07
Shuddering attacks are benign shivering movements occurring in young children. The etiology is unknown; however, a relationship to essential tremor has been postulated. A series of 12 consecutive children were identified over a 6-year period ending January 1, 2007. Shuddering attacks were diagnosed based on descriptive history and videotape review. Their referral diagnosis was epilepsy in 7 (58%) and movement disorder in 5 (42%). The referring physician never suspected the diagnosis. The age of [...]
Neuropsychiatric Manifestations in Langerhans' Cell Histiocytosis Disease: A Case Report and Review of the Literature
17/08/2010 03:07
The spectrum of the possible manifestations of Langerhans’ cell histiocytosis in children is very wide, ranging from a simple rash to major multiorgan disease. There may be hypothalamic and pituitary dysfunction or more global neurological and neuropsychiatric manifestations when the central nervous system is affected. The cerebellum is preferentially affected for yet undetermined reasons. The clinical presentation includes motor dysfunction as well as cognitive, behavioral, and psychiatr [...]
17/08/2010 03:07
The spectrum of the possible manifestations of Langerhans’ cell histiocytosis in children is very wide, ranging from a simple rash to major multiorgan disease. There may be hypothalamic and pituitary dysfunction or more global neurological and neuropsychiatric manifestations when the central nervous system is affected. The cerebellum is preferentially affected for yet undetermined reasons. The clinical presentation includes motor dysfunction as well as cognitive, behavioral, and psychiatr [...]
Neural Tube Defects in the North of Jordan: Is There a Seasonal Variation?
17/08/2010 03:07
Neural tube defects are serious birth defects of the brain and the spinal cord due to interference with neural tube closure about the 28th day after fertilization. Seasonal variation in the development of neural tube defects has been reported. The objective of this study was to demonstrate any association between the season of conception and the development of neural tube defects in the north of Jordan. For a 7-year period between January 2000 and December 2006, data of 78 neonates born with ne [...]
17/08/2010 03:07
Neural tube defects are serious birth defects of the brain and the spinal cord due to interference with neural tube closure about the 28th day after fertilization. Seasonal variation in the development of neural tube defects has been reported. The objective of this study was to demonstrate any association between the season of conception and the development of neural tube defects in the north of Jordan. For a 7-year period between January 2000 and December 2006, data of 78 neonates born with ne [...]
Feeding Problems in Children With Neonatal Arterial Ischemic Stroke
17/08/2010 03:07
Feeding disorders and the association of neonatal feeding disorders with other outcomes were assessed in a cohort of 84 children with neonatal arterial ischemic stroke at a tertiary children’s hospital. Both 2 tests and Fisher’s exact test were used to test associations. Forty-one of 84 children (48.8%) had feeding difficulties. Infarcted vascular territory (unilateral vs bilateral, P = .24) and neonatal seizures (P = .39) were not associated with feeding problems. Children with at [...]
17/08/2010 03:07
Feeding disorders and the association of neonatal feeding disorders with other outcomes were assessed in a cohort of 84 children with neonatal arterial ischemic stroke at a tertiary children’s hospital. Both 2 tests and Fisher’s exact test were used to test associations. Forty-one of 84 children (48.8%) had feeding difficulties. Infarcted vascular territory (unilateral vs bilateral, P = .24) and neonatal seizures (P = .39) were not associated with feeding problems. Children with at [...]
Autism Spectrum Disorders in Tuberous Sclerosis: Pathogenetic Pathways and Implications for Treatment
17/08/2010 03:07
Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear. The dysregulation of intracellular signaling through the activation of mTOR pathway could play a direct role in determining susceptibil [...]
17/08/2010 03:07
Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear. The dysregulation of intracellular signaling through the activation of mTOR pathway could play a direct role in determining susceptibil [...]
Dorsolateral Prefrontal Cortex Magnetic Resonance Imaging Measurements and Cognitive Performance in Autism
17/08/2010 03:07
This study examined the relationships between volumetric measurements of frontal lobe structures and performance on executive function tasks in individuals with autism. Magnetic resonance imaging (MRI) scans were obtained from 38 individuals with autism and 40 matched controls between the ages of 8 and 45 years. Executive function was assessed using neuropsychological measures including the Wisconsin Card Sorting Test and Tower of Hanoi. Differences in performance on the neuropsychological test [...]
17/08/2010 03:07
This study examined the relationships between volumetric measurements of frontal lobe structures and performance on executive function tasks in individuals with autism. Magnetic resonance imaging (MRI) scans were obtained from 38 individuals with autism and 40 matched controls between the ages of 8 and 45 years. Executive function was assessed using neuropsychological measures including the Wisconsin Card Sorting Test and Tower of Hanoi. Differences in performance on the neuropsychological test [...]
Functional Magnetic Resonance Imaging Activation of the Brain in Children: Real Acupoint Versus Sham Acupoint
17/08/2010 03:07
The purpose was to examine the brain activation patterns with acupuncture using real acupoint (Liv3) versus sham acupoint in healthy, sedated children using functional magnetic resonance imaging (fMRI). Functional magnetic resonance imaging scans of the brain for 10 healthy, sedated children were taken during stimulation of real acupoint (Liv3 [Taichong]) and a nearby sham acupoint in a randomized order, employing twisting and nontwisting methods using a blocked paradigm using a 2.0-T scanner. [...]
17/08/2010 03:07
The purpose was to examine the brain activation patterns with acupuncture using real acupoint (Liv3) versus sham acupoint in healthy, sedated children using functional magnetic resonance imaging (fMRI). Functional magnetic resonance imaging scans of the brain for 10 healthy, sedated children were taken during stimulation of real acupoint (Liv3 [Taichong]) and a nearby sham acupoint in a randomized order, employing twisting and nontwisting methods using a blocked paradigm using a 2.0-T scanner. [...]
Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1
17/08/2010 03:07
Neurofibromatosis type 1 (NF1) is associated with cognitive dysfunction and structural brain abnormalities such as an enlarged corpus callosum. This study aimed to determine the relationship between corpus callosum morphology and cognitive function in children with neurofibromatosis type 1 using quantitative neuroanatomic imaging techniques. Children with neurofibromatosis type 1 (n = 46) demonstrated a significantly larger total corpus callosum and corpus callosum index compared with control p [...]
17/08/2010 03:07
Neurofibromatosis type 1 (NF1) is associated with cognitive dysfunction and structural brain abnormalities such as an enlarged corpus callosum. This study aimed to determine the relationship between corpus callosum morphology and cognitive function in children with neurofibromatosis type 1 using quantitative neuroanatomic imaging techniques. Children with neurofibromatosis type 1 (n = 46) demonstrated a significantly larger total corpus callosum and corpus callosum index compared with control p [...]
Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China
17/08/2010 03:07
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding pr [...]
17/08/2010 03:07
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding pr [...]
Tuberculous Meningitis-Related Optic Neuritis: Recovery of Vision With Thalidomide in 4 Consecutive Cases
17/08/2010 03:07
Blindness is an uncommon but devastating complication of tuberculosis meningitis. The main causes are chronically raised intracranial pressure (hydrocephalus and/or tuberculomas) or direct involvement of the optic chiasm or optic nerves by the basal arachnoiditis (inflammation and/or compression). Antituberculosis therapy combined with corticosteroids and control of intracranial pressure constitutes the mainstay of therapy for tuberculous meningitis. Despite these treatment measures, some patie [...]
17/08/2010 03:07
Blindness is an uncommon but devastating complication of tuberculosis meningitis. The main causes are chronically raised intracranial pressure (hydrocephalus and/or tuberculomas) or direct involvement of the optic chiasm or optic nerves by the basal arachnoiditis (inflammation and/or compression). Antituberculosis therapy combined with corticosteroids and control of intracranial pressure constitutes the mainstay of therapy for tuberculous meningitis. Despite these treatment measures, some patie [...]
Language and Focal Brain Lesion in Childhood
17/08/2010 03:07
Childhood ischemic strokes can lead to problems like hemiplegias, epilepsies, cognitive changes (memory and mathematical solutions), and language ability (reading, writing, and aphasias). The purpose of this study was to evaluate language and its aspects in children with unilateral ischemic stroke and associate them with the age during the event, injured side, and occurrence of epilepsy. Thirty-two children between 8 months and 19 years of age were evaluated. Among them, 21 (65%) had a change i [...]
17/08/2010 03:07
Childhood ischemic strokes can lead to problems like hemiplegias, epilepsies, cognitive changes (memory and mathematical solutions), and language ability (reading, writing, and aphasias). The purpose of this study was to evaluate language and its aspects in children with unilateral ischemic stroke and associate them with the age during the event, injured side, and occurrence of epilepsy. Thirty-two children between 8 months and 19 years of age were evaluated. Among them, 21 (65%) had a change i [...]
Late Germinal Matrix Hemorrhage-Like Lesions in Very Preterm Infants
17/08/2010 03:07
In preterm infants, the germinal matrix is a common origin of hemorrhages during the first 7 days of life. Sonographically, germinal matrix hemorrhages present as subventricular echodensities evolving into pseudocysts. Similar lesions have been reported as incidental findings also beyond 7 days of life. They may result from vasculitis and ischemic infarction, rather than hemorrhage. To assess the occurrence, time course, and significance for neurodevelopment of such late germinal matrix hemorrh [...]
17/08/2010 03:07
In preterm infants, the germinal matrix is a common origin of hemorrhages during the first 7 days of life. Sonographically, germinal matrix hemorrhages present as subventricular echodensities evolving into pseudocysts. Similar lesions have been reported as incidental findings also beyond 7 days of life. They may result from vasculitis and ischemic infarction, rather than hemorrhage. To assess the occurrence, time course, and significance for neurodevelopment of such late germinal matrix hemorrh [...]
Safety, Tolerability, and Efficacy of High-Frequency Chest Wall Oscillation in Pediatric Patients With Cerebral Palsy and Neuromuscular Diseases: An Exploratory Randomized Controlled Trial
17/08/2010 03:07
Airway secretions and infections are common in cerebral palsy and neuromuscular diseases. Chest physiotherapy is standard therapy but effort is substantial. High-frequency chest wall oscillation is used in cystic fibrosis but tolerability and safety data in cerebral palsy and neuromuscular disease are limited. A prospective, randomized, controlled trial of high-frequency chest wall oscillation and standard chest physiotherapy was performed in participants with neuromuscular disease or cerebral [...]
17/08/2010 03:07
Airway secretions and infections are common in cerebral palsy and neuromuscular diseases. Chest physiotherapy is standard therapy but effort is substantial. High-frequency chest wall oscillation is used in cystic fibrosis but tolerability and safety data in cerebral palsy and neuromuscular disease are limited. A prospective, randomized, controlled trial of high-frequency chest wall oscillation and standard chest physiotherapy was performed in participants with neuromuscular disease or cerebral [...]
Erratum
05/08/2010 13:35
In the above referenced article in the April 2010 issue of the Journal of Child Neurology, the name of the second author appears incorrectly. The author’s name appeared as Arvind Hoskappal and it should have appeared as Arvind Hoskoppal.
05/08/2010 13:35
In the above referenced article in the April 2010 issue of the Journal of Child Neurology, the name of the second author appears incorrectly. The author’s name appeared as Arvind Hoskappal and it should have appeared as Arvind Hoskoppal.