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6 month older girl: -Brought in because of seizures. -Was able to roll but has lost that ability. -Has diminished responsiveness and progressive blindness. -Vitals normal -Muscles atrophied -No hepatomegaly -Fundoscope shows retinal pallor. 1. What does she likely have? 2. What enzyme is likely decreased in both her parents? 3. What does her condition cause? 4. What is typical feature seen on fundoscope? 5. What is the inheritance? 6. What are general features seen in the disease? 7. What is typical prognosis?

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Neurology is the branch of medicine that focuses on the study, diagnosis, and management of conditions affecting the nervous system.


1. 6 month older girl: -Brought in because of seizures. -Was able to roll but has lost that ability. -Has diminished responsiveness and progressive blindness. -Vitals normal -Muscles atrophied -No hepatomegaly -Fundoscope shows retinal pallor. 1. What does she likely have? 2. What enzyme is likely decreased in both her parents? 3. What does her condition cause? 4. What is typical feature seen on fundoscope? 5. What is the inheritance? 6. What are general features seen in the disease? 7. What is typical prognosis?





 
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