Foot Involvement - A Presenting Feature for Gaucher Disease, A Case Report

Gaucher disease is one of recessive autosomal diseases, wide range of childhood diseases to the absence of symptoms throughout its life. That three types of is more common than other types, that comprises a wide range of clinical findings in childhood and may be seen in different parts of the body but Long bone involvement is common in Gaucher disease.
In this paper, 11-month-old baby girl suddenly lost the ability to walk and her loss of appetite, night sweats, severe irritability and weight reduction, Her parents were healthy and there was not a history of any special disease in both families and She hasn’t had a history of previous hospitalization, so using different tests and biopsies the Gaucher disease was diagnosed.
Careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders. Signs such as splenomegaly, anemia, thrombocytopenia and developmental delay can be signs of Gaucher disease, so the presence of these signs should be investigated.