Ultimately all conditions are metabolic. In this Unit we will concentrate on those disorders determined by primary metabolic disorders, an increasing number of which have been elucidated genetically. We will learn how clinical acumen can increase the suspicion of a neurometabolic disorder. We shall consider the classification of these disorders and how that can help a rational approach to investigation. As usual we shall consider how information on these conditions, often complex can be relayed to the families involved.
COURSE CONTENT
Unit 09 Metabolic, nutritional & systemic disease
This section deals with the classification, presentation and general approach to the investigation of neurometabolic disease with particular reference to the nervous system.
In this section we shall study the inherited white matter disorders. We shall learn how to differentiate the classical and new leukodystrophies, and how to identify the dysmyelinating disorders on clinical and neuroradiological grounds. We shall begin to think about possible approaches to treating these disorders.
In this section we shall study the inherited grey matter disorders including the neuronal ceroidal lipofuscinoses, other lysosomal storage disorders and neuro-axonal degeneration. As we did with the inherited disorders of white matter, we shall try to relate the underlying cellular and molecular basis to observed neuroradiological and pathological findings, and devise a rational approach to their investigation.
In this section we shall learn about movement disorders in childhood. We shall concentrate on the more common presentations, their biochemical and central nervous system substrate basis, a rational approach to investigation, and how best to inform the families involved of their nature. Dystonia has been covered elsewhere in the Distance Learning Course (in Unit 4 Section 5) but will be discussed again here in the context of the neurotransmitter disorders.
This section should make you feel confident in your clinical approach to the child presenting with a metabolic encephalopathy, with respect to investigations and approach to management.
By the end of this section you should understand the principles of the dietary management of inborn errors of intermediary metabolism, the approaches to the treatment of storage disorders, bone marrow transplantation, and other genetic approaches to the treatment of neurometabolic disorders.
In this section we are going on a virtual ward-round to address some commonly faced clinical scenarios. This will test your current knowledge and guide you where to look if you are unsure.
COURSE DELIVERY
The course is accessed via a dedicated website. On acceptance of your application, we will provide you with a username and password to access the website.
Each Unit is split into smaller Sections (see Course Content for details). For each section, you will download a zip file containing an Activity document and reference papers.
The Activity document leads you through each section, providing work-based activities for you to complete. You may choose to work through the Activity document on your computer or print off the materials so that you can work on a hard copy.
Each activity is designed to lead you through the topic. Sometimes an activity will ask you to read a paper and then answer questions. Other times it will ask you to consider a case. A Commentary follows each activity, to check your learning. For most units there are also a number of lectures to watch.
You will have access to the unit for 3-years from the date of enrolment. We would hope that you will work through it at a rate that is right for you, maintaining a balance between momentum and enjoyment..
CERTIFICATION
As you complete the Activity document for each section, send it by email to the BPNA. Once it has been reviewed, we will provide a certificate of Continuing Professional Development. You can download this from your BPNA personal account.
WHO IS THIS FOR?
Consultant and trainee:
- Paediatric Neurologists
- Paediatricians
ENROL
This unit is included in Bundle 4 (save 40%) High income countries. Click here to see how you could save