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?
A.Myotonic dystrophy
B.Pompe disease
C.Prader-Willi syndrome
D.Spinal muscular atrophy
E.Tay-Sachs disease
答案解析：
Tay-Sachs病是一种常染色体隐性遗传性溶酶体贮积症，导致进行性神经变性。黄斑部樱桃红斑是本病的特征性表现，由异常变白、富含脂质的神经元围绕并加重正常中心凹的颜色引起。
正确答案：E
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