An 8-month-old presents with Developmental delay, hypotonia, and a cherry-red spot on fundoscopy. Explore this case of progressive neurodegeneration.
An 8-month-old girl presented with strabismus and developmental delay. On examination, she was noted to have macrocephaly, intermittent exotropia in the left eye, and hypotonia. Fundoscopic exam results are shown in the image. MRI of the brain revealed inadequate myelination diffusely and a thin corpus callosum. What is the diagnosis?
What is the most likely diagnosis?
Cherry-Red Spot, Hypotonia, Lysosomal Storage Disorder, Neurodegeneration, Tay-Sachs disease
