system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A 5-year-old girl is brought in for a routine checkup. She was born at 39 weeks gestation via spontaneous vaginal delivery and is up to date on all vaccines and is meeting all developmental milestones. Upon examination, she is pale with a few petechiae on her chest neck and back. Examination of the abdomen reveals painless hepatosplenomegaly. Liver enzymes are mildly elevated and complete blood cell count shows slight anemia and thrombocytopenia. Iron, B12, and folate are normal. A bone marrow biopsy shows mildly hypocellular marrows with diffuse macrophages with eosinophilic cytoplasm. The cytoplasm looks like wrinkled tissue paper on further inspection. No blasts are observed. What is the most likely diagnosis in the present case?
assistant
Gaucher disease type I