Decreased eye contact and exaggerated startle response

Reference no: EM133726276

Question

A 6-month-old boy presents with decreased eye contact and an exaggerated startle response. He was developing normally until about 1 month ago when his mother says he started to lose his motor skills. He has a rapidly increasing head circumference and retinal cherry red spots on examination. No cataracts are noted. Skin examination notes normal pigmentation and no eczema. He has no myoclonic activity. What diagnosis should be suspected?

Reference no: EM133726276

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