A 13-year-old boy presents with progressive fatigue, easy bruising, and recurrent bone pain over 6 months. Vital signs show BP 105/68, HR 92, RR 18, temp 37.2°C, SpO2 98%. Examination reveals massive splenomegaly; liver is not enlarged. Laboratory studies demonstrate hemoglobin 9.2 g/dL and platelets 65,000/μL. Bone marrow biopsy shows characteristic lipid-laden macrophages with wrinkled tissue paper appearance. Which enzyme deficiency best explains these findings?
- A)Alpha galactosidase A
- B)Beta glucocerebrosidaseGABARITO
- C)Sphingomyelinase
- D)Lysyl hydroxylase
- E)Hexosaminidase A
Explicação
This patient has Gaucher disease due to beta glucocerebrosidase deficiency. Accumulation of glucocerebroside in macrophages produces hepatosplenomegaly, cytopenias, and painful bone crises, and the macrophages have a classic crumpled or wrinkled tissue paper a... Ver explicação completa e trilha adaptativa →