5.2. Pediatric Presentations



Andersson H, et al. Pediatrics. 2008;122:1182-90;
Mistry PK, et al. Crit Rev Oncog. 2013;18:235-46;
Kaplan P, et al. Arch Pediatr Adolesc Med. 2006;160:603-8.

The pediatric presentations include hepatosplenomegaly, bone pain and bone manifestations, growth failure, delayed puberty in older patients. There may be malignancies, immunological abnormalities as well as psychosocial adjustment disorder because of chronic fatigue and chronic ill health that these children suffer from as shown here in the children in the International Gaucher Registry where about half of the patients had anemia and growth failure, moderate to severe hepatomegaly was present in nearly 90% of patients while almost all of the children had splenomegaly and bone manifestations were present in about a third of these children.





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