A 1-year-old girl presents with developmental regression, abdominal distention, and failure to thrive. Vital signs show HR 110/min, RR 28/min, temp 37.2°C. Physical examination reveals hepatosplenomegaly without jaundice. Funduscopic examination demonstrates a cherry red spot. Serum acid phosphatase is markedly elevated at 45 U/L (normal <5). Bone marrow biopsy reveals lipid-laden foam cells. Which enzyme deficiency most likely explains these findings?
- A)Iduronate 2 sulfatase
- B)Acid alpha glucosidase
- C)Alpha galactosidase A
- D)Hexosaminidase A
- E)SphingomyelinaseGABARITO
Explicação
This child has Niemann Pick disease due to sphingomyelinase deficiency, causing sphingomyelin accumulation in macrophages and neurons. Cherry red macula, neurodegeneration, foam cells, and hepatosplenomegaly are characteristic. The presence of organomegaly hel... Ver explicação completa e trilha adaptativa →