Clinical approach to neurodegenerative disorders in childhood: an updated overview
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.
KeywordsLeukoencephalopathies Neuronal ceroid lipofuscinosis Lysosomal storage diseases Epileptic encephalopathies Ponto-cerebellar hypoplasia Spinal muscular atrophy
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Conflict of interest
The author has no funding or conflict of interest to declare. This article does not contain any studies with human participants or animals performed by the author. The MRIs in Fig. 2 were realized during an ordinary diagnostic workup of the involved patients and a parental informed consent for their publication was obtained for each one of them.
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