Neurological indications and complications of storage diseases

Storage diseases, as one of the groups of inherited metabolic diseases, are a major challenge to medical practitioners. The majority appear in early childhood and affect the nervous system, more frequently than the other systems. As a rule these are disease which are very difficult to differentiate in clinical terms from each other, as the same symptoms and signs occur in several different diseases. Moreover, one disease may appear in several different forms depending on the age of the patient and the level of development already achieved in the nervous system. The age when symptoms appear varies and depends, of course, on the disease itself, but also on the level of residual enzyme activity. The nervous system itself is still very immature after birth and over the years it goes through many changes until it reaches the peak of its development, which is not usual for other organs and organ systems. Precisely for this reason specific diagnosis is almost impossible on the basis of merely the clinical picture as seen, but for a well-informed medical practitioner it serves to narrow down the differential diagnosis.