A 7-year-old boy presents with progressive developmental delay, aggressive behavior, and coarse facial features. Vital signs show BP 95/60, HR 102, RR 22, Temp 37.2°C, SpO2 98% on room air. Physical examination reveals hepatosplenomegaly without jaundice. Slit lamp examination shows clear corneas. Recent laboratory studies demonstrate elevated urinary heparan sulfate and normal serum mucopolysaccharide levels. Which enzyme deficiency most likely explains this clinical presentation?
- A)Alpha L iduronidase
- B)Galactocerebrosidase
- C)Iduronate 2 sulfataseGABARITO
- D)Arylsulfatase A
- E)Sphingomyelinase
Explicação
This patient has Hunter syndrome caused by iduronate 2 sulfatase deficiency. Hunter syndrome is X linked and presents with coarse facies, developmental delay, and hepatosplenomegaly, but unlike Hurler syndrome it does not cause corneal clouding. Clear corneas ... Ver explicação completa e trilha adaptativa →