Headache in a 19-Year-Old Woman With a Genetic Disorder

Chad A. Whyte, MD


October 26, 2017

Editorial Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please contact us.


A 19-year-old woman presents to the clinic after a hospital visit for headaches. She has had headaches for approximately 5 years and they have been progressively increasing in frequency. She experiences a daily headache that she rates as 5 out of 10 in severity, with a more severe one occurring once a week. The severe headaches are accompanied by nausea, photophobia, and an increase in pain with movement. She is worried because the daily headaches are located in the occipital region, whereas the severe headaches typically occur behind her eyes. She was started on divalproex sodium (valproic acid) in the emergency department.

Her past medical history is significant for Wyburn-Mason syndrome, a phakomatosis characterized by multiple arteriovenous malformations (AVMs) located above the neck. She has had various laser ablations to attempt to minimize bleeding complications. Besides divalproex sodium (valproic acid), she is taking duloxetine and methylphenidate, as well as over-the-counter nonsteroidal anti-inflammatory drugs (NSAIDs) more than twice a week. Her family history reveals that both parents experience headaches. She does not use alcohol or tobacco, but she does consume approximately 6 cans of caffeinated cola per day.


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