| 1. |
- Abul-Kasim, Kasim, et al.
(författare)
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The Neuroanatomic Localization of Epstein-Barr Virus Encephalitis May Be a Predictive Factor for Its Clinical Outcome: A Case Report and Review of 100 Cases in 28 Reports.
- 2009
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Ingår i: Journal of Child Neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24, s. 720-726
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Tidskriftsartikel (refereegranskat)abstract
- Encephalitis is one of the manifestations of infection with Epstein-Barr virus with clinical outcome varying from complete recovery to death. A 16-year-old boy with Epstein-Barr virus encephalitis with global cortical and subcortical gray matter involvement and a full clinical recovery is reported. The case inspired a literature review which yielded 100 cases of Epstein-Barr virus encephalitis subjected to radiological investigation and published in 28 reports. Cerebellum and basal ganglia were reported to be equally involved by Epstein-Barr virus infection, next to cerebral hemisphere. Patients with isolated hemispheric gray or white matter involvement were reported to achieve good recovery while almost half of the patients with thalamic involvement developed sequelae. The highest mortality rate was among patients with isolated brain stem involvement. In conclusion, neuroanatomic distribution of the radiological abnormalities in Epstein-Barr virus encephalitis may be useful as a prognostic marker.
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| 2. |
- Almojuela, A, et al.
(författare)
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The Full Outline of UnResponsiveness (FOUR) Score and Its Use in Outcome Prediction: A Scoping Review of the Pediatric Literature
- 2019
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 34:4, s. 189-198
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Tidskriftsartikel (refereegranskat)abstract
- The Full Outline of UnResponsiveness (FOUR) score is a neurologic assessment score. Its benefit over pre-existing scores is its evaluation of brainstem reflexes and respiratory pattern. Our goal was to perform a scoping systematic review of the literature on the application of the FOUR score within pediatric patients. Six databases were searched and 2 reviewers independently screened the results. The initial search yielded 1709 citations; ultimately, 6 studies composed of 571 pediatric patients were used. Four studies examined interobserver reliability of the FOUR score and found it to be good to excellent. All 6 studies demonstrated equivalency of the FOUR score and Glasgow Coma Scale (GCS) in predicting outcome. The existing literature suggests the FOUR score is equivalent to GCS in outcome prediction in pediatric patients; its true superiority over the GCS has not yet been established. It displays good to excellent inter-rater reliability among physicians and nurses.
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| 3. |
- Alpman, A, et al.
(författare)
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Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy
- 2010
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1485-1490
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Tidskriftsartikel (refereegranskat)abstract
- Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. Haplotype analysis showed no significant association. Compound genotype analysis showed that CC3435/GG2677 was significantly higher in the control group compared to the patient group. In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response.
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| 4. |
- Autti, Taina, et al.
(författare)
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Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation
- 1997
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Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 12:6, s. 369-75
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Tidskriftsartikel (refereegranskat)abstract
- Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were done on the brains of four additional adult patients. Signal intensities determined quantitatively on T2-weighted images differed significantly between patients and controls, being higher from the white matter (P < .0002) and lower from the thalami (P < .03) in the patients. The generally increased signal intensity of the white matter was most obvious in the young patients, with many focal areas of very high signal intensity in the subcortical white matter. The subcortical white matter showed a somewhat increased signal intensity even at the age of 32 years. In two of the four postmortem MR images, the distinction between the gray and white matter was still poor. At histopathologic analysis, the basic cortical cytoarchitecture was generally preserved but most neurons contained vacuoles, which were also found in the neurons of the deep gray matter. In two of the four autopsy cases the white matter showed diffuse pallor of myelin staining and some gliosis. Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.
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| 5. |
- Babcock, M. A., et al.
(författare)
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Injury to the preterm brain and cerebral palsy: clinical aspects, molecular mechanisms, unanswered questions, and future research directions
- 2009
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Ingår i: J Child Neurol. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 24:9, s. 1064-84
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Tidskriftsartikel (refereegranskat)abstract
- Cerebral palsy will affect nearly 10% of the 60,000 very low-birth-weight infants born in the United States in the next year, and an even greater percentage will display some form of permanent neurological impairment resulting from injury to the preterm brain. The 2008 Neurobiology of Disease in Children Symposium, held in conjunction with the 37th annual meeting of the Child Neurology Society, aimed to define current knowledge and to develop specific aims for future clinical, translational, and fundamental science. A complex interplay of both destructive and developmental forces is responsible for injury to the preterm brain. Advances in imaging and histology have implicated a variety of cell types, though preoligodendrocyte injury remains the focus. Research into different mechanisms of injury is facilitating new neuroprotective and rehabilitative interventions. A cooperative effort is necessary to translate basic research findings into clinically effective therapies and better care for these children.
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| 6. |
- Beernaert, Kim, et al.
(författare)
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Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy : A Population Survey
- 2019
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Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 34:4, s. 210-215
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE:: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness.STUDY DESIGN:: A full population survey, conducted in 2015, among parents of children with severe spinal muscular atrophy who were born in Denmark between January 1, 2003, and December 31, 2013. We used a study-specific questionnaire with items about experiences and wishes concerning the provision of information about diagnosis, treatment, and end-of-life care.RESULTS:: Among the 47 parents that were identified, 34 parents of 21 children participated. Eleven of them were nonbereaved and 23 were bereaved parents. All parents stated that health care staff did not take any decisions without informing them. A proportion of parents indicated that they were not informed about what spinal muscular atrophy entails (32%), possible treatment options (18%), or the fact that their child would have a short life (26%) or that death was imminent (57%). Most of the bereaved parents who had wishes concerning how and where their child would pass away had their wishes fulfilled.CONCLUSIONS:: The study showed that health care staff did not take treatment decisions without parents being informed. However, there is room for improvement concerning information about what spinal muscular atrophy entails, treatment options, and prognosis. Possibilities of palliative care and advance care planning should be investigated for these parents, their child, and health care staff.
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| 7. |
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| 8. |
- Eeg-Olofsson, O, et al.
(författare)
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D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy
- 2000
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Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 15:7, s. 488-492
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Tidskriftsartikel (refereegranskat)abstract
- D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process. (J Child Neurol 2000;15:488-492).
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| 9. |
- FALCK, G, et al.
(författare)
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Brain weight and sudden infant death syndrome
- 1995
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Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:2, s. 123-126
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Tidskriftsartikel (refereegranskat)abstract
- Increased brain weights have been reported in the literature to occur among infants who have died from sudden infant death syndrome, suggesting that cerebral edema might play a role in the cause of death among these children. We have compared brain weights from children between the ages of 1 week and 1 year, autopsied between 1980 and 1992. One group consisted of 125 victims of sudden infant death syndrome and the other of 38 children who had died with a diagnosis other than the sudden infant death syndrome. Brain weights from both groups exceeded the 50th percentile in previously published reference material. We were unable to show any significant differences between the groups in either the ratio between observed and expected brain weights or the ratio between brain weight and body weight. We conclude that there is no evidence for the notion that victims of sudden infant death syndrome have an increased brain weight. Other authors (in previous studies) may have overlooked the low overall weight at gestational age of prematurely born children while collecting data for reference levels. A revision of the figures seems to be necessary. (J Child Neurol 1995;10:123-126).
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| 10. |
- Georgakis, MK, et al.
(författare)
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Gliomatosis Cerebri Among Children and Adolescents: An Individual-Patient Data Meta-analysis of 182 Patients
- 2019
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 34:7, s. 394-401
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Tidskriftsartikel (refereegranskat)abstract
- Gliomatosis cerebri is a rare but fatal widespread infiltrating central nervous system tumor. We aimed to describe diagnostic and prognostic features of gliomatosis cerebri among children and adolescents. Methods: We conducted a systematic literature review for published case reports and case series on patients with histologically confirmed gliomatosis cerebri and extracted data on an individual patient level for those aged 0-18 years. Multivariable Cox proportional hazard models were fit for overall survival. Results: Following screening of 274 published studies, 182 gliomatosis cerebri patients (63% males) aged 0-18 years with individual-level data available were identified. The most common presenting symptoms were seizures (52%), focal motor deficits (36%), and headache (30%). Imaging showed bilateral hemisphere involvement in 60%, infratentorial infiltration in 39%, and a focal contrast-enhanced mass (type II gliomatosis cerebri) in 27% of cases. Anaplastic astrocytoma was the most common histologic subtype of pediatric gliomatosis cerebri, whereas MGMT promoter methylation, IDH1 mutations, and codeletion of 1p/19q were less common molecular aberrations, as compared to adult gliomatosis cerebri. In the multivariable analyses, age at diagnosis >4 years, extended central nervous system infiltration, coordination abnormalities, and cognitive decline were predictors of worse outcome. Conversely, IDH1 mutations were associated with prolonged overall survival. Chemotherapy and extended surgical resection were associated with improved outcome, whereas radiotherapy was not associated with overall survival and was inferior to chemotherapy alone. Conclusion: Gliomatosis cerebri among children and adolescents presents distinct histopathologic and molecular features compared to adults. However, similar associations of chemotherapy, and, when feasible, extended surgical resection, with favorable outcomes were noted among the 2 age groups.
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