Clinical approach to neurodegenerative disorders in childhood: an updated overview
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REVIEW ARTICLE
Clinical approach to neurodegenerative disorders in childhood: an updated overview Mario Mastrangelo1 Received: 7 March 2019 / Accepted: 27 May 2019 © Belgian Neurological Society 2019
Abstract Neurodegenerative disorders include a group of severe diseases that share a core including a gradual loss of previously acquired motor, sensory and cognitive functions. In pediatric age, the main diagnostic issues are the discrimination between the loss of previously acquired competencies and the lack of achievement of specific developmental milestones. An ideal classification of these disorders could be based on the combination of genetic, clinical and neuroimaging features. Diagnostic workup should be organized with a special attention to the few diseases with an available and effective therapeutic treatment. The present paper reports a proposal of classification that is based on the prominently involved structure and summarizes the hallmarks for clinical approach and therapeutic management. Keywords Leukoencephalopathies · Neuronal ceroid lipofuscinosis · Lysosomal storage diseases · Epileptic encephalopathies · Ponto-cerebellar hypoplasia · Spinal muscular atrophy
Background Neurodegenerative disorders include a group of severe diseases in which a progressive loss of neuronal structures or functions in different areas of central and peripheral nervous system is present [1]. The core clinical features of these disorders can be summarized as the gradual loss of previously acquired motor, sensory and cognitive functions [1]. These patterns are relatively easy to asses in adult neurology where Alzheimer and Parkinson diseases are largely prominent under the epidemiological viewpoint [1]. More challenging differential diagnostic difficulties can be experienced in pediatric age because: (a) the underlying diseases are rare and predominantly genetic with only a few specialized clinical centres having expertise; (b) pathogenetic mechanisms and clinical presentations are wider and more heterogeneous; (c) the discrimination between the loss of a previously acquired cerebral function and the delay in the achievement of specific developmental milestones can be extremely hard [2]. * Mario Mastrangelo [email protected] 1
Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Via dei Sabelli 108, 00141 Rome, Italy
This review aimed to summarize the current principle of clinical management of this expanding group of diseases that is often underdiagnosed.
Classification No optimal and agreed classification is available for childhood onset neurodegenerative disorders because pathogenic mechanisms and molecular genetics basis are not completely known for different clinical entities despite the ever increasing evidences emerging in the last decade. A useful and pragmatical classification should take into account that these conditions involve different cortical or subcortical structures, cellular or sub-cellular networks and disease-causing genes [2]. E
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