An 8-month-old boy exhibits severe motor, sensory, and cognitive impairments. Brain biopsy shows a disease of white matter characterized by the accumulation of “globoid cells.” Biochemical studies reveal an absence of galactocerebroside b-galactosidase activity. What is the appropriate diagnosis?
An 8-month-old boy exhibits severe motor, sensory, and cognitive impairments. Brain biopsy shows a disease of white matter characterized by the accumulation of “globoid cells.” Biochemical studies reveal an absence of galactocerebroside b-galactosidase activity. What is the appropriate diagnosis?
💡 Explanation
An 8-month-old boy exhibits severe motor, sensory, and cognitive impairments. Brain biopsy shows a disease of white matter characterized by the accumulation of "globoid cells." Biochemical studies reveal an absence of galactocerebroside b-galactosidase activity. What is the appropriate diagnosis?
✓ Correct Answer: C. Krabbe disease
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