2.6c. Neurological phenotypes


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Another neurological abnormality that can be seen in LSDs is ophthalmoplegia, which is a restriction in the eye movement. This could be a pathognomonic sign if you have a child who develops neurological symptoms with ophthalmoplegia, there aren’t many things that can cause that. Gaucher Disease type 3, the neuropathic Gaucher Disease, and Niemann-Pick type c and GM1 gangliosidosis are on the top of that list, so really it is almost pathognomonic for these three diseases.

 

 

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