DDx
Mapping a Complicated Genetic History of Epilepsy
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Description
A 5-month-old was brought to the emergency department with staring episodes. In this episode of DDx, we’re reminded that even when initial tests come back normal, keep thinking about the patient in front of you and probe parents for any new signs.
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After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. She’s in pain, frustrated, and nothing seems to help. So when a clinical trial presents itself, her doctor isn’t sure she’ll want to participate. While the decision to participate...
Published 05/29/24
DDx
Published 05/29/24
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