A 7-month-old infant presents with extreme irritability, developmental regression, and feeding difficulty over the past 6 weeks. Vital signs show HR 128/min, RR 26/min, temp 37.2°C. Physical examination reveals hypertonia, optic atrophy, and no hepatosplenomegaly. Nerve conduction studies demonstrate demyelination. Brain MRI shows white matter abnormalities. Cerebrospinal fluid protein is elevated at 89 mg/dL. Sural nerve biopsy reveals pathognomonic multinucleated globoid cells. Which enzyme deficiency best explains these findings?
- A)GalactocerebrosidaseGABARITO
- B)Arylsulfatase A
- C)Beta glucocerebrosidase
- D)Hexosaminidase A
- E)Acid alpha glucosidase
Explicação
This infant has Krabbe disease due to galactocerebrosidase deficiency. Psychosine accumulation is toxic to oligodendrocytes and Schwann cells, causing severe central and peripheral demyelination, optic atrophy, and globoid cells. Early infancy onset with marke... Ver explicação completa e trilha adaptativa →