The Challenge: Can you solve the mystery of a 56-year-old woman who goes for a routine eye exam but ends up with a diagnosis of a disease she had never heard of and never suspected?
Every month, the Diagnosis column of The New York Times Magazine asks Well readers to sift through a difficult case and solve a diagnostic riddle. Usually I provide all kinds of detailed lab reports and images from the patient’s medical chart. But not this time.
Today, I’m presenting a case in which the diagnosis was made based on very little information. I’ll share everything that the doctor involved had to work with, but I warn you, it’s a tough one. As usual, the first reader to figure out this puzzle gets a signed copy of my book “Every Patient Tells a Story.”
Let’s get started.
The Presenting Problem:
A middle-aged woman with newly diagnosed diabetes is referred to a specialist eye doctor after her own ophthalmologist notes an abnormality on exam.
The Patient’s Story:
The patient scheduled an appointment with her eye doctor a few months after learning she had diabetes. She already saw him pretty regularly because of childhood amblyopia (lazy eye), and then because of early glaucoma. After reading that diabetes could cause significant damage to the eyes, she was concerned that she might have yet another ophthalmological problem. She had no particular complaints about her vision and was feeling pretty well over all but was just being cautious and wanted to be certain that her eyes were fine; after all, she didn’t know she had glaucoma, either, until it was picked up on a routine exam some years ago.
Unfortunately, her ophthalmologist hadn’t been able to give her that reassurance. He was certain that she didn’t have the most common eye problem associated with diabetes: the development of abnormal blood vessels that can leak and diminish vision. But he thought that one of the nerves entering the back of the eye from the brain appeared thicker than normal, as if it was swollen. That was consistent with one of the more unusual but well-known complications of diabetes, a condition called diabetic papillopathy.
(You can see pictures of the patient’s retinas, below, with light-colored circles appearing where the optic nerve enters the eye. In the left eye, the circle has a fuzzy edge on the left side, suggesting swelling; in the right eye, in contrast, the border of the disc is sharp all the way around.)
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Images of the patient’s left and right retinas.Credit
Once her eye doctor told her about his concern, she was more than willing to follow up with a subspecialist. And so she was referred to Dr. Robert Lesser, a neuro-ophthalmologist.
The Patient’s Medical History:
When the patient first entered Dr. Lesser’s office, in Southbury, Conn., she felt as if she had boarded a well-run ship. She was briskly checked in, then taken back to an exam room where a nurse inquired about her current symptoms and her medical history.
Over all, she felt pretty healthy — she really had no symptoms. Her few medical problems were all very well controlled, she told the nurse. She had diabetes, as well as a history of high blood pressure and high cholesterol. She took medications for each of these problems, as well as the occasional Motrin for arthritis.
The only significant illness she reported was a hospitalization two years ago for meningitis and encephalitis. At that time she’d had a severe headache, fever and confusion. She went to her doctor, who sent her straight to the emergency room. Her husband was out of town but hurried home as soon as he heard.
She stayed in the hospital for three weeks. During that illness she developed intermittent double vision because one of her eyes stopped moving in certain directions. To her it felt as if her lazy eye had come back. But even that got better, though it took several nerve-racking weeks.
A year or so later she developed urinary incontinence. She saw a urologist who wanted to put some kind of electronic device into her bladder to help her relax the muscle. Instead, she went to her primary care doctor, who checked her blood glucose and found it wildly elevated at 558. Once she was handed a diagnosis of diabetes, the patient decided it was time to lose her excess weight. She began watching what she ate and using a meal replacement intermittently. She started exercising, too, and over the next year lost more than 50 pounds.
She didn’t smoke or drink alcohol, although she had smoked in the past. She worked in an urban office. She had no family history of diabetes or cancer. Her mother had heart disease.
The Doctor’s Exam:
When she finished stating her medical history, she was taken to Dr. Lesser’s exam room. She waited only a few minutes before he came in. He was a trim man, tidy of dress with a youthful face, his hair streaked with white.
After the pleasantries, the doctor looked at her closely and asked her a question that no one had ever asked her before. That question ultimately led to a diagnosis with a disease she had never heard of or suspected, since she didn’t feel sick. The patient gave me permission to show you her picture, which you can see below.
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The doctor asked the patient a question that led to the correct diagnosis.Credit
Solving the Mystery:
My question to you, dear readers, is this: What question did the doctor ask, and what was the diagnosis?
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