2.6k. Neurological phenotypes


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SIMD-NAMA

Other painful syndromes can include hemorrhagic cholecystitis in the metachromatic leukodystrophies, acroparesthesias in Fabry Disease. These are the first presenting symptoms in young children with Fabry Disease. Before they have kidney disease, before they have strokes, before they have cardiomyopathy, they will tell their pediatrician that they have burning and achiness in the hands and the feet. That the achiness and the burning will get worse when it’s hot outside, when it’s cold outside, when they play sports, that they tend to seek colder environments, that they will remove their shoes and put their feet on the cold tile. Most pediatricians will diagnose these as growing pains and will not think of Fabry Disease but this is the first symptom that the Fabry child will have, even before they have the GI pain and the constipation and the dysmotility. Other neurological pain and discomfort can include the hyperirritability and the hyperesthesia in Krabbe Disease, intermittent arm and leg pain due to nervous input from the metachromatic leukodystrophy.

 

 

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