A child presents with neurodegeneration and a cherry-red spot on fundus examination. Enzyme assay reveals hexosaminidase A deficiency. What is the most likely diagnosis?
A 3-year-old child is brought to the emergency room with a generalized seizure following a high-grade fever. What is the first-line drug of choice for seizure control in this acute febrile setting?
A 6-month-old infant presents with recurrent infections and failure to thrive. Laboratory investigations reveal a deficiency of adenosine deaminase (ADA). Which of the following immunodeficiency disorders is most likely associated?
A child presents with developmental delay and coarsefacial features. Enzyme assay reveals a deficiency of α-L-iduronidase. Which of the following substances is most likely to accumulate in this condition?
The pedigree diagram of a family is shown below. Affected individuals present with progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. Based on the pedigree and clinical features, what is the most likely diagnosis?
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