4.1. Pediatric presentations


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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