POLG: a cause of intractable epilepsy

Excerpt

Occasionally our Journal Club is driven by the identification of a single clinical story or diagnosis encountered in routine clinical practice which sparks interest and identifies a need to develop knowledge of the disorder and a better understanding of what we are able to offer our patient(s). This month’s article is an example of this dynamic and reflects a prolonged diagnostic process in a patient who eventually was found to have a form of mitochondrial disease. This is a commonly proposed, but rarely substantiated, diagnostic consideration when faced with a patient with multiple, seemingly unrelated, neurological symptoms and a series of negative tests and continues to be a favourite of clinico pathological conferences. The ambiguous acronyms, diagnostic challenges, and clinical profiles of these disorders do not result in straightforward clinical management and continue to present a significant challenge for neurologists. However, our understanding of this group of disorders is continuing to evolve and although, for the time being, mitochondrial diseases remain incurable, there are important ways in which initial front line management can influence disease course and prognosis and are, therefore, of relevance to general neurologists. …