Manual of Child Neurology: Problem Based Approach to Common Disorders

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Since the last century, remarkable advances at both the basic and clinical levels have considerably improved our ability to evaluate and treat children with neurological disorders. Many cases seen by ...
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Neurodegenerative Disorders

Pp. 35-41 (7)

Mohammed M. S. Jan


The evaluation of children with suspected neurodegenerative disorders (NDD) requires good background knowledge, accurate assessment, and formulation of a list of differential diagnoses. The initial clinical assessment would guide the physician in requesting the required laboratory investigations in order to reach a specific diagnosis. Reaching a specific diagnosis is of clear importance for providing appropriate therapy, prognosis, and genetic counselling. Many students, residents, and fellows consider neurological disorders, particularly NDD, difficult to master. This reflects the diversity and complexity of various neurological disorders. Different classification systems exist making these disorders confusing to most physicians. However, in this chapter a concise and simple outline with practical tips to facilitate the diagnosis of various NDD will be presented. Important diagnostic tips and possible pitfalls will be discussed, as well as updates in terms of the diagnostic and therapeutic interventions.


Degenerative, Metabolic, Motor, Development, Regression, White matter, Grey matter, Leukodystrophy, Mitochondria, Lysosomal.


Professor & Consultant of Pediatric Neurology Department of Pediatrics Faculty of Medicine King Abdulaziz University Jeddah Kingdom of Saudi Arabia