Tuesday, October 12, 2010

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

A 19-year-old white 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 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) by a physician's assistant 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.

On presentation, the patient does not appear to be in acute distress. Her vital signs include a blood pressure of 110/60 mm Hg, a pulse rate of 88 bpm, and a respiratory rate of 14 breaths/min. She is afebrile. On inspection, a large subcutaneous AVM is apparent on the left side of her face; a right corneal AVM is noted as well. Also visible on her face are tiny ulcers in various stages of healing. Musculoskeletal examination reveals severe tenderness to palpation of the cervical paraspinous muscles, with moderate spasm. The patient has a normal mental status with intact cranial nerves, except for some facial numbness at the area of the left facial AVM. Her strength is 5/5 (5 representing normal strength) bilaterally in both upper and lower extremities, with normal bulk and tone. Deep tendon reflexes are 2+ and symmetric in all 4 extremities. In the rest of the body, sensation is intact to pinprick, temperature, vibration, and proprioception. Her coordination and gait are normal.

Laboratory investigations reveal a normal complete blood cell count, a comprehensive metabolic panel, normal thyroid-stimulating hormone level, and normal coagulation levels. A 3-dimensional reconstructed image from a computed tomography angiogram (CTA; Figure) demonstrates a large, complex facial AVM, as well as one in the basal ganglia (not shown). No vascular stenosis is noted

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