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