European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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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.
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Eur. J. Paediatr. Neurol. · Jan 2002
Case ReportsIsolated hypoglossal nerve palsy in a 14-year-old girl.
Isolated hypoglossal nerve palsy is rare, but occasionally it appears as the initial or solitary sign of an intracranial or extracranial space-occupying lesion or a vascular abnormality of the internal carotid artery. We present a 14-year-old girl who, following an upper respiratory tract infection, presented with isolated right hypoglossal nerve palsy. ⋯ She had a partial improvement at 3 months. This case emphasizes the value of recognizing the existence of benign self-limiting, post-infectious causes of isolated hypoglossal nerve palsies in children.
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Eur. J. Paediatr. Neurol. · Jan 2000
ReviewUpdate on perinatal hypoxic insult: mechanism, diagnosis and interventions.
Cerebral hypoxia-ischaemia in the neonate can produce irreversible tissue injury and is always associated with major perturbations in the energy status of the brain. The major neurological manifestations of brain injury in these babies are spastic motor deficits. ⋯ Important advances in the assessment of cerebral injuries in neonates have been made in the area of neuroimaging, especially in magnetic resonance imaging which may provide useful prognostic information when obtained in the course of brain injury. Future studies may focus on new therapeutic pharmacological and non-pharmacological strategies aimed at the reversal of the pathophysiological mechanisms activated by perinatal hypoxia-ischaemia.