VALUE OF CFS INVESTIGATION IN DIAGNOSIS AND THERAPY OF INHERITED METABOLIC ENCEPHALOMYOPATHIES

RON A. WEVERS

The cerebrospinal fluid is the neurologist's window to the brain. In order to find neurometabolic diseases this window provides a far better view on central nervous system metabolism than the conventional metabolic screening in urine samples. Several metabolic diseases are known where diagnostic work up of CSF provides the clue to the diagnosis. Well known examples are non-ketotic hyperglycinaemia, some cases of mitochondrial encephalomyopathies, serine synthesis defects and defects in the pathways of biogenic amines. A paper by Hoffmann, Surtees and Wevers (Neuropediatrics 1998; 29: 59-71) gives a review on this topic and deals with the diagnostic strategies for neurometabolic disorders. In this lecture three examples will be given of disorders that can only be diagnosed via the CSF. Two of these diseases can be treated very well and therefore it is of utmost importance to be aware of these diseases.