Q:

An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise

Anwaar
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2022-09-11
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An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise,and large head. Ophthalmic exam revealed cherry-red spot. Of the following, the MOST likely diagnosis is

  1. Tyrosine
  2. Fabry disease
  3. Gaucher disease
  4. Tay-Sachs disease
  5. Niemann-pick disease
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Anwaar
2022-09-11
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(D). Tay-Sachs disease results from the deficiency of B-hexosaminidase activity. Clinical manifestations in infancy including loss of motor skills, increased startle reaction, and macular pallor and retinal cherry-red spots.

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