A 4-year-old girl presents with progressive gait instability and loss of speech over 6 months. Vital signs show BP 98/62, HR 102, RR 22, temp 37.2°C, SpO2 98%. Neurologic examination reveals spasticity, peripheral neuropathy, and absent deep tendon reflexes. MRI demonstrates diffuse CNS demyelination. Serum arylsulfatase A activity is markedly decreased. She denies recent infections and takes no medications. Which enzyme deficiency most likely explains these findings?
- A)Sphingomyelinase
- B)Hexosaminidase A
- C)Galactocerebrosidase
- D)Arylsulfatase AGABARITO
- E)Alpha galactosidase A
Explicação
This child has metachromatic leukodystrophy due to arylsulfatase A deficiency. Sulfatide accumulation causes central and peripheral demyelination, producing progressive motor and cognitive decline with neuropathy. The combination of leukodystrophy plus periphe... Ver explicação completa e trilha adaptativa →