Niemann-pick types a/b


What are the first symptoms of Niemann-Pick disease (SMPD1-associated) type A?

The first symptom in children with Niemann-Pick disease type A is usually a very large liver and spleen (also known as "hepatosplenomegaly"). This typically appears by 3 months of age. At the same time, children with this condition do not grow and gain weight as much as expected. This is called "failure to thrive." Children with Niemann-Pick disease type A usually develop normally until about age 1, but then start to regress, or lose skills they had previously learned. They also usually develop problems with their lungs. Children with Niemann-Pick disease also have a cherry-red spot seen at the back of the eye, which may not present at birth but eventually is noted on eye examination.

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