2.6. Neurological phenotypes



The biggest area is the neurological phenotype because most LSDs have a neurological phenotype. There are very rare LSDs who only have a visceral phenotype like Gaucher Disease, most of them have either mild to very severe neurological phenotypes. Here they are divided by types of events and phenotypes. There are LSDs that can have sudden neurological events such as strokes in Fabry Disease and even though this is rare in the pediatric population it can happen in late adolescence, early adulthood. Some pediatricians do continue to see patients until age 22 to 24. They may have a patient with Fabry Disease who may develop a stroke without reason, and most of these will be described as idiopathic strokes and nobody really understands why they have them. If you have a stroke in a male with no apparent reason you really have to suspect Fabry Disease. Spinal cord compression, again that goes with that atlanto-axial instability, if that instability becomes very prominent and you have a mild incident or a mild shakiness or accident, it can compress the spinal cord and that is a neurological emergency. Mucopolysaccharidosis have their own neurological abnormalities, and the reason why the patients' heads are sometimes big is because they have these communicating hydrocephalus with accumulation of the CSF in the brain, and sometimes a pediatrician can see a child who looks normal at one visit and at the follow up visit find that their head circumference is increasing for no reason and it takes a long while before the child will develop neurological finding because it takes a while for the brain tissue to suffer from that expansion of the CSF. A quick test to do would be to get a CT of the skin or an MRI, to look at the enlargement of these ventricles. Carpal tunnel syndrome can also occur due to median nerve injury. Again, there is thickening and there is abnormal bone positioning that can entrap the nerves that go in the wrist and can cause median nerve injury.





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