Pediatric Neurology (PEDIATR NEUROL )

Publisher: Elsevier


Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system.Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal's editor, Kenneth F. Swaiman, MD, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.

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    Pediatric Neurology website
  • Other titles
    Pediatric neurology
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    Periodical, Internet resource
  • Document type
    Journal / Magazine / Newspaper, Internet Resource

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    • Publisher last contacted on 18/10/2013
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Publications in this journal

  • [Show abstract] [Hide abstract]
    ABSTRACT: Background Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. Patient Described is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformation with subsequent hydrocephalus. Results At birth, clinical examination revealed rachischisis totalis without acrania. The spinal defect extended from the mid-cervical to the lower sacral vertebrae. Serial cranial ultrasounds and brain MRI revealed Chiari II malformation with severe hydrocephalus. The spinal defect was closed and a ventriculoperitoneal shunt placed to relieve the hydrocephalus. The clinical course was complicated by significant central apneic events often necessitating aggressive resuscitation and chest compressions. The infant has survived with expected severe developmental delay but has graduated from hospice care. Conclusion This report demonstrates that survival with variable function and quality of life is possible with severe open neural tube defects. A multidisciplinary team approach including family centered care must be utilized early to overcome the many ethical challenges that such cases present.
    Pediatric Neurology 07/2014;
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    ABSTRACT: Augusta Dejerine-Klumpke (1859-1927) was the first woman to be appointed as an intern (resident) to a French university hospital in Paris. She became renowned, not only because of her marriage to the famous neurologist Joseph Jules Dejerine, but also for her work and publications as a neuroanatomist, a neurologist, a neuroscientist and as the first person to describe lower brachial plexus palsy. She influenced generations of doctors with her contribution to the description and treatment of neurological diseases. She received 2 Legion of Honor medals, one in 1913 with the rank of Chevalier for her scientific work, and one in 1921 with the rank of Officer, for her work in treating wounded soldiers during the Great war. She was elected the first female president of the French Society of Neurology in 1914 and published over 56 papers on neurology and neuroanatomy. She still is an inspiration for all women willing to accomplish a medical career.
    Pediatric Neurology 06/2014;
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    ABSTRACT: Background Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system and its hormones, including sex hormones. PatientS A 19-year-old male patient had presented with failure to thrive, psychomotor deterioration, intractable epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. His serum level of cholesterol was low, ranging from 78.7 to 116.5 mg/dl. Results The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol and dihydrolanosterol, were not increased. In addition, the levels of the urinary cholesterol biosynthesis marker mevalonic acid, the serum cholesterol absorption markers campesterol and sitosterol, and the serum cholesterol catabolism marker 7α-hydroxycholesterol were all low. Conclusions A serum biomarker analysis indicated that the patient’s basic abnormality differed from that of Smith-Lemli-Opitz syndrome and other known disorders of cholesterol metabolism. Therefore, this case may represent a new metabolic disorder with hypocholesterolemia due to decreased biosynthesis and absorption of cholesterol.
    Pediatric Neurology 06/2014;
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    ABSTRACT: Background Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion and rhombencephalosynapsis. We report the second case of this condition presenting consanguineous parents. Patient The male patient was evaluated shortly after birth due to suspicion of craniosynostosis. He is the only son of healthy consanguineous parents: his maternal grandmother and his paternal great-grandfather are sibs. At physical examination, we observed turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set and posteriorly rotated ears and short neck with redundant skin. Radiographies and tridimensional computed tomography scan of skull showed lambdoid craniosynostosis. Brain magnetic resonance imaging revealed complete rhombencephalosynapsis, aqueductal stenosis, fused colliculi, abnormal superior cerebellar penducle, mild ventriculomegaly and dysgenesis of the corpus callosum. Conclusions Since its first description, 34 patients with the same condition were reported. Until now the etiology of Gómez-López-Hernández syndrome is unknown. However, it is noteworthy the description of a patient presenting a family history of consanguinity, as observed in the present report. This finding reinforces the possibility of an autosomal recessive inheritance for this condition.
    Pediatric Neurology 06/2014;
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    ABSTRACT: Background Tick paralysis is an arthropod-transmitted disease causing potentially lethal progressive ascending weakness. The presenting symptoms of tick paralysis overlap with those of acute inflammatory diseases of the peripheral nervous system and spinal cord; thus, the condition is increasingly misdiagnosed, leading to unnecessary treatments and prolonged hospitalization. Patient A two-year-old girl residing in northern New York and having no history of travel to areas endemic to ticks presented with rapidly progressing ascending paralysis, hyporeflexia, and intact sensory examination. Investigation included blood and serum toxicology screens, cerebrospinal fluid (CSF) analysis, and brain imaging. With all tests negative, the patient’s condition was initially misdiagnosed as botulism; however, an engorged tick was later found attached to the head skin. Following tick removal, the patient’s weakness promptly improved with no additional interventions. Conclusion This case illustrates the importance of thorough skin examination in all cases of acute progressive weakness and the necessity to include tick paralysis in the differential diagnosis of paralysis occurring in nonendemic areas.
    Pediatric Neurology 06/2014;
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    ABSTRACT: Atypical nonketotic hyperglycinemia is characterized by heterogeneous phenotypes that often include nonspecific behavioral problems, cognitive deficits, and developmental delays. We describe a girl with late-onset nonketotic hyperglycinemia presenting at 5 years of age with hypotonia, chorea, ataxia, and alterations in consciousness in the setting of febrile illness. Serum amino acid analysis was mildly elevated; however, urine amino acid analysis was instrumental in demonstrating marked hyperglycinuria. Mutation testing showed a heterozygous novel sequence change/point mutation in the glycine decarboxylase gene. This patient illustrates the importance of obtaining urine amino acids in individuals whose clinical manifestations are suspicious for any form of nonketotic hyperglycinemia, because this testing may provide more prominent evidence of elevations in glycine. She also illustrates the potential for a heterozygous mutation to result in manifestations of an atypical form of nonketotic hyperglycinemia.
    Pediatric Neurology 05/2014; 50(5):536-8.
  • Pediatric Neurology 05/2014; 50(5):539.
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    ABSTRACT: We report a patient with hemolytic uremic syndrome who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome. A 13-year-old girl presented with fever and bloody diarrhea and progressed to develop hemolytic uremic syndrome. She subsequently developed encephalopathy, aphasia, and right-sided weakness. Brain magnetic resonance imaging showed presence of vasogenic edema in the left frontal lobe, in addition to T2 and fluid-attenuated inversion recovery changes in white matter bilaterally, compatible with posterior reversible encephalopathy syndrome. Magnetic resonance angiography showed beading of the cerebral vessels. Neurological deficits reversed 8 days after symptom onset, with resolution of the beading pattern on follow-up magnetic resonance angiography after 3 weeks, suggesting reversible cerebral vasoconstriction syndrome. Both posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome may represent manifestations of similar underlying pathophysiologic mechanisms. Recognition of the co-existence of these processes in patients with hemolytic uremic syndrome may aid in judicious management of these patients and avoidance of inappropriate therapeutic interventions.
    Pediatric Neurology 05/2014; 50(5):518-21.
  • Pediatric Neurology 05/2014; 50(5):443-6.
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    ABSTRACT: Distinguishing between seizures and nonepileptic events is a key challenge in pediatric neurology. The diagnostic gold standard is prolonged inpatient video electroencephalogram monitoring. However, little is known about preadmission characteristics that are predictive of recording an event during such monitoring. This is a retrospective chart review of children undergoing prolonged inpatient video electroencephalogram monitoring between 2009 and 2012 at a tertiary referral center for the purpose of distinguishing between seizures and nonepileptic events. Demographic information, medical history, event characteristics, and inpatient monitoring course were abstracted. Two-hundred thirteen children were identified. The median recording duration was 25 hours (interquartile range 22.4-48.5), and median time to event of interest (among those with an event recorded) was 4.5 hours (interquartile range 1.4-18.8). An event of interest was recorded in 66% of patients. At the event level, 20% of recorded events were associated with an electroencephalogram correlate, which refers to a change in the pattern seen on the electroencephalogram during a seizure. At the patient level, 112 (79.4%) with events recorded had only nonepileptic events recorded, 25 (17.7%) had only seizures recorded, and 4 (2.8%) had both recorded. Recording an event was predicted by the presence of intellectual disability (P = 0.001), greater preadmission event frequency (P < 0.001), and shorter latency since most recent event (P < 0.001). Prolonged inpatient electroencephalogram monitoring captured an event of interest in two-thirds of patients, with most of these events captured within less than four and a half hours of recording onset. Several factors predict a greater yield with prolonged inpatient video electroencephalogram monitoring-including event frequency, latency since the most recent event, and the presence of intellectual disability-and can be used to counsel patients regarding this study for the purpose of event capture in the context of shared decision making.
    Pediatric Neurology 05/2014; 50(5):458-63.
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    ABSTRACT: Background Cerebellar mutism in children is seen following posterior fossa tumor resection, with lasting effects on cognition, language and behavior. Cerebellar mutism in acute disseminated encephalomyelitis (ADEM) is rare. Patient A 7 year old boy with a 3-day history of fever, vomiting, diarrhea presented with altered mental status and expressive aphasia. Magnetic resonance imaging (MRI) showed new diffusion restriction in bilateral dentate nuclei and right cerebellum. With treatment, he began to verbalize again but had long term cognitive and language difficulties. Conclusion ADEM is commonly a benign process, but its effect on the cerebellum can be long lasting.
    Pediatric Neurology 05/2014;
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    ABSTRACT: Ischemic stroke in the pediatric population is a rare occurrence, and its possible causes span a wide differential that includes atrial myxomas. Myxomas are friable cardiac tumors that produce "showers" of emboli resulting in transient neurological deficits, cutaneous eruptions, and ophthalmologic deficits. We present an 11-year-old boy with a months-long history of an intermittent spotted "rash" who presented with acute ischemic stroke caused by a left atrial myxoma. We also review clinical features in all 16 other cases of cardiac myxoma causing pediatric stroke reported in the literature. Our case, along with the review of the literature, highlights the fact that myxomas often initially present as stroke with acute hemiplegia and transient cutaneous eruptions due to fragmentation of the tumor. Cardiac myxoma should be considered in any child presenting with ischemic stroke, and transient skin findings may provide an important diagnostic clue prior to onset of neurological symptoms.
    Pediatric Neurology 05/2014; 50(5):525-9.
  • Pediatric Neurology 04/2014; 50(4):285-6.
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    ABSTRACT: Acute disseminated encephalomyelitis is an inflammatory-demyelinating disorder of the central nervous system usually with a monophasic course and a favorable neurological outcome. Long-term neurocognitive sequelae and quality of life have not yet been fully investigated. To examine neurocognitive outcome and quality of life in pediatric monophasic acute disseminated encephalomyelitis. Of the 36 patients diagnosed with acute disseminated encephalomyelitis at our institution, six were lost to follow-up and eight relapsed (two with multiphasic forms and six with multiple sclerosis). The outcome of the 22 remaining patients was evaluated using four subscales of the Wechsler Intelligence Scales for estimation of IQ, a battery of neuropsychological tests, and semistructured and PedsQL questionnaires for quality of life. The effect of age at onset, neuroradiological recovery, and time elapsed from the acute event on outcome was also investigated. Estimated IQ, neuropsychological mean group scores, and quality of life at follow-up were within the normal range, but 23% of the patients had pathological scores in various neuropsychological functions, among which attention was the most clearly affected. The neuroradiological recovery was not correlated with the result of the neuropsychological tests. Age at onset correlated with linguistic skills, whereas the time elapsed from the acute event had a significant effect on attention tasks: scores were worse in the group of patients with a follow-up shorter than 7 years. Our results suggest that pediatric monophasic acute disseminated encephalomyelitis has a favorable neurocognitive outcome. Patients with longer follow-up had a better outcome, suggesting a neurocognitive course that is different from that of multiple sclerosis and a potential for long-term recovery of affected functions.
    Pediatric Neurology 04/2014; 50(4):363-7.
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    ABSTRACT: Febrile convulsions and allergic rhinitis are both common childhood disorders and both are considered as generally benign disorders. Yet, especially in the case of allergic rhinitis, adverse effects on school performance and limited socialization are found. The relationship between febrile convulsions and allergic rhinitis has not been previously reported; thus, this article seeks to explore the association between these two disorders by collecting data from the Taiwanese nationwide cohort database. A total of 1304 children with febrile convulsions were identified as the case cohort, and controls were matched based on age, sex, urbanization levels, and parents' occupation on a 1 to 4 ratio. Cox's proportional hazards regression model was used to estimate the hazard ratio and confidence interval of allergic rhinitis disorder among children with febrile convulsions. During an average 6.7 years follow-up period, the incidence of allergic rhinitis in the febrile convulsions case group was higher (65.16 vs 51.45 per 1000 person-years). After 11 years of follow-up, the allergic rhinitis incidence in the febrile convulsion patients was approximate 4% higher than controls (log-rank test P < 0.0001). Risk of allergic rhinitis in the febrile convulsions group was found to be 1.21 times higher than in the control group (95% confidence interval, 1.08-1.36). This risk of allergic rhinitis development is further increased (0.94 vs 18.9) with frequency of febrile convulsions-related medical visits (one to three visits vs more than three visits, P < 0.0001). Febrile convulsions may be associated with allergic rhinitis occurrence in children. Children with more than three febrile convulsion-related medical visits had a significantly higher cumulative incidence of allergic rhinitis. Both disorders have previously been reported to have similar cytokine profiles and specific viral infection association. More studies are required to explore a possible link between the two disorders.
    Pediatric Neurology 04/2014; 50(4):329-33.
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    ABSTRACT: Fragile X syndrome, the most common form of inherited intellectual disability, is caused by expansion of CGG trinucleotide repeat at the 5' untranslated region of the FMR1 gene at Xq27. In affected individuals, the CGG repeat expansion leads to hypermethylation and the gene is transcriptionally inactive. Our aim was to identify fragile X syndrome among children with intellectual disability in Saudi Arabia. The study included 63 patients (53 males, 10 females) presented with intellectual disability, 29 normal subjects, and 23 other family members. DNA samples from six patients previously diagnosed with fragile X syndrome by Southern blot technique were used as positive controls. The method was based on bisulfite treatment of DNA followed by two different techniques. The first technique applied polymerase chain reaction amplification using one set of primers specific for amplifying methylated CpG dinucleotide region; another set designed to amplify the unmethylated CGG repeats. The second technique used the methylation-specific melting curve analysis for detection of methylation status of the FMR1 promoter region. Molecular testing using methylation sensitive polymerase chain reaction had shown amplified products in all normal subjects using unmethylated but not methylated primers indicating normal alleles, whereas amplified products were obtained using methylated polymerase chain reaction primers in fragile X syndrome-positive samples and in 9 of 53 males, indicating affected individuals. Molecular testing using melting curve analysis has shown a single low melting peak in all normal males and in (44/53) patients indicating unmethylated FMR1 gene, whereas high melting peak indicating methylated gene was observed in the fragile X syndrome-positive samples and in 9 of 53 patients. We found 100% concordance between results of both techniques and the results of Southern blot analysis. Three samples have shown both methylated and unmethylated alleles, indicating possible mosaicism. No female patients or carriers could be detected by both techniques. The technique can be applied for the rapid screening for fragile X syndrome among patients with intellectual disability. The impact of mosaicism on clinical severity needs further investigation.
    Pediatric Neurology 04/2014; 50(4):368-76.