Such a classification is probably no longer valid. It may be more correct to say that there is a spectrum, with some patient having predominantly neurological problems, and some having mainly visceral problems, eg in the spleen, liver and bone marrow. This was first described in 1995 in Israel and Spain. These patients have an eye movement abnormality and heart valve calcification. It is often very difficult to identify someone who has Type 3 Gaucher disease merely by looking at them.
Careful assessment is therefore essential.
A patient who is suspected of having NGD has to have a thorough clinical assessment, eye movement studies, audiology and neuropsychometric tests, and imaging. In this way, some patients who were originally diagnosed with Type 1 have been re-diagnosed as having Type 3 Gaucher disease. Clinical examination should include an assessment of cognitive function, looking for movement disorders and assessment of brainstem function. Eye movement and audiology studies were not discussed in detail as they were the subjects of other specialists' talks. It is important that all children have regular tests of their cognitive function to identify deterioration.