A 3-year-old boy presents with developmental delay and recurrent upper airway infections. Vital signs show HR 110/min, RR 28/min, BP 105/65 mmHg, temperature 37.2°C. Physical examination reveals coarse facial features, corneal clouding, macroglossia, and hepatosplenomegaly. Laboratory studies demonstrate elevated urinary glycosaminoglycans. No cardiac murmurs are appreciated. Which enzyme deficiency most likely explains this clinical presentation?
- A)Iduronate 2 sulfatase
- B)Acid alpha glucosidase
- C)Alpha L iduronidaseGABARITO
- D)Hexosaminidase A
- E)Phenylalanine hydroxylase
Explicação
This child has Hurler syndrome due to alpha L iduronidase deficiency, leading to accumulation of heparan sulfate and dermatan sulfate. Coarse facies, developmental delay, airway problems, hepatosplenomegaly, and corneal clouding are classic. Corneal clouding h... Ver explicação completa e trilha adaptativa →