European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Eur. J. Paediatr. Neurol. · Mar 2009
ReviewThe use of generic medication in epilepsy: a review of potential issues and challenges.
Changing from brand name to generic antiepileptic drugs (AEDs) is increasingly being advocated by the authorities, principally for budgetary reasons. However, caution should be exercised since AEDs may have a narrow therapeutic margin, the regimen with AEDs may be complex, the consequences of uncontrolled seizures may be severe, and risk of side effects is relatively high, particularly when seizures are difficult to control. This article focuses on the possible problems that can arise from the substitution of AEDs formulations, such as loss of seizure control and emergence of new side effects. ⋯ Switching AED formulations should always be done with the necessary caution and under the physician's supervision. Closer follow-up during the transitional period is necessary, and dosage adjustment may be required. The patient should be given full and correct advice about risks involved in switching AED formulations.
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In 1984, Jean Aicardi and Françoise Goutières described 8 children showing both severe brain atrophy and chronic cerebrospinal fluid lymphocytosis, with basal ganglia calcification in at least one member of each affected family. The course was rapid to death or a vegetative outcome. Aicardi and Goutières correctly predicted that the disorder would be genetic, but emphasised that "some features, especially the pleocytosis, may erroneously suggest an inflammatory condition". ⋯ At the time of writing, Crow's team has discovered that over 80% of families with Aicardi-Goutières syndrome have mutations in one of four nuclease genes, the exonuclease TREX1 and the genes for all three subunits of the ribonuclease H2 enzyme complex. Aicardi-Goutières syndrome is both genetically and phenotypically heterogeneous, with a range of severity from life-threatening perinatal illness to mild late infancy onset. All infants of whatever genotype have increased interferon-alpha in the first year of life and this appears to be the final common pathway that links Aicardi-Goutières syndrome, congenital virus infection and systemic lupus erythematosus.
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Eur. J. Paediatr. Neurol. · Jan 2005
Review Case ReportsPancreatitis, complicated by a pancreatic pseudocyst associated with the use of valproic acid.
A 12-year-old boy developed pancreatitis, complicated by a pancreatic pseudocyst, as an adverse reaction to valproic acid (VPA) treatment for epilepsy. Pancreatitis subsided within three weeks after discontinuation of VPA. The pancreatic pseudocyst was managed without surgery and resolved spontaneously in four weeks. ⋯ All patients recovered. Patients using VPA, especially children, presenting with acute abdominal pain should be suspected of valproic acid-induced pancreatitis. If VPA induced pancreatitis is complicated by a pseudocyst, conservative treatment should be the first line of treatment.
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Eur. J. Paediatr. Neurol. · Jan 2003
ReviewOrnithine transcarbamylase deficiency: a urea cycle defect.
The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. Pathological findings are non-specific. ⋯ Treatment can be given with a low protein diet, and with alternate pathway drugs such as sodium benzoate and phenylbutyrate. Liver transplant can be considered when symptoms are life-threatening, although there may be severe complications. Gene replacement therapy is the hope of the future.
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Eur. J. Paediatr. Neurol. · Jan 2002
ReviewPantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
The arguments over the nomenclature of the syndrome are reviewed. Ethical considerations favour replacing the present eponyms with the title of panthothenate kinase-associated neurodegeneration (PKAN), now that more is known about the cause of the condition. The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. ⋯ Drugs may be needed to control epilepsy, and when dystonia is severe it may be possible to alleviate this by medical or surgical means. Also there will be other problems needing expert management, such as the provision of alternative means of communication if dysarthria is marked. The hope for the future is that now the cause has been found it will be possible to use methods such as antioxidative therapy and gene induction procedures.