Medical Mystery: The case of the moon face

Many doctors couldn't help with Shelly Matheson's medical problem. Emory Special Diagnostic Services solved it in minutes.

Top Doctors 2018 moon face

Illustration by Chris Gash

During the winter holiday, Jackie Roché, a middle school teacher from Marietta, looked at some pictures taken at a family gathering and wondered why her cheeks seemed so full. Had she stuffed them with food just before the photo was taken? A few days later, she noticed her face was getting even rounder—although her clothes fit normally, and she hadn’t gained weight.

At first, she looked for a simple explanation. She went to the dentist, who said she had no problems with her teeth or gums. She picked up some nasal spray, in case she had an allergy or congestion. She visited a primary care doctor, who told her it could be a sinus infection and gave her an antibiotic and steroids.

As the weeks went by, she began feeling worse. She was overcome with fatigue. An ear, nose, and throat doctor examined her sinuses and, after three visits and a CT scan, said they were clear. Another internist tested her for lupus and rheumatoid arthritis, but she didn’t have either. “It’s so scary to not know what’s wrong with you,” says Roché, 48.

Diagnosis: Cushing’s syndrome. At Emory’s Special Diagnostic Services clinic, Roché handed Dr. Clyde Partin a photo taken in early December, so he could see the difference in her face. At first, he thought she was showing him a picture from years before. When he realized it was recent, he began asking questions. “I don’t know if it took him 10 minutes to say, ‘I really think you have Cushing’s syndrome. Now, we have to figure out how you got it,’” recalls Roché. The syndrome often causes a “moon face.”

Just before the symptoms began, Roché had been treated with steroid injections for neck pain. Too much steroid treatment can cause the adrenal gland to stop making cortisol, a hormone the body needs for daily functioning and to respond to stress. “It had all shut down. I was tired all the time,” she says. An endocrinologist put Roché on a different steroid as a treatment, until her adrenal glands began gradually to produce cortisol again.

This mystery was solved by Emory Clinic’s Special Diagnostic Services. For more about the clinic and Dr. Clyde Partin, check out our story, Doctor Detective.

This article appears in our July 2018 issue.