Hi everyone!
Lets talk about a 2 year old girl with a h/o seizure disorder who presents to your clinic for the first time for routine care. Past medical records shows that the patient is on anti-seizure medication since the last year. There is no family history of seizures. Parents report poor feeding and sleep disturbances. The girl appears to be very happy, laughing all the time for no reason. On examination, her head circumference is in the 10th percentile and is noted to have hand flapping behavior. She has not met the expected milestones for her age. What is the diagnosis?
???
ANGELMAN SYNDROME
Fun fact: Angelman Syndrome was previously known as "Happy Puppet Syndrome"😄
- Padma Sri Katikaneni
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