4.1. Pediatric presentations


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Therefore, in the world of pediatrics Gaucher Disease can present at any time, and in any speciality, so it could present in the neonatal intensive care unit with fulminant type 2 Gaucher Disease, it can present in the first or the second year of life with failure to thrive, developmental delay and these patients are usually affected with type 2 or type 3 Gaucher Disease. From year 2 and beyond, in pediatrics children can present to a whole range of specialities, neurology with a squint due to occular motor apraxia, hematology oncology with low platelets, anemia, coagulopathy and bruising, to a general pediatrician with asymptomatic splenomegaly discovered during a routine well-child examination. It can present to an endocrinologist with the unexplained growth failure, and it can present to a orthopedic surgeon with avascular osteonecrosis which can be misdiagnosed as osteomyelitis or even bone cancer.

 

 

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