Unusual cases

Sometimes you welcome the rare diagnoses: It breaks the monotony of hypertension and chest pain (not that they are unimportant, or boring, but they are very common and don’t challenge the intellect in quite the same way). Someone once told me, “If you don’t put a rare disease on your differential diagnosis, you will never see one,” and he was right. Maybe not EVERY differential, but the ones that are out of the ordinary. Like the chap with FUO (fever of unknown origin), who had made the rounds of other internists, and showed up with just fever, and an abnormal hemogram, at the office. Absolutely nothing came out of extensive bloodwork, cultures, serology and radiology. So out comes the weird and wonderfuls. Anemia was the only clue. A bone marrow analysis showed the non-caseating granulomas I was looking for, and with a pulse of steroids, I was his best friend. Good old non-pulmonary sarcoidosis. Maxine was a 43-year-old schoolteacher admitted to the ICU in pulmonary edema. Pure left-sided failure. Normotensive, in sinus, no risk factors or other symptoms, with completely normal cardiac auscultation. Normal EKG and lab. The echo showed us the left atrial myxoma, obstructing flow through the mitral valve. Surgery fixed her pretty easily. Joyce B was in her late 60s. She was a retired community nurse and midwife who worked with my wife. She taught at the local nursing college. We asked her to join us for lunch at a country pub, and she was uncharacteristically late. “I think I ran through a red light on the way here, she said on arrival, which caused some interesting conversation. Before the meal arrived, she became nauseated and fainted. This was a bit embarrassing—not something I was in the habit of dealing with outside of the ER. The pub staff asked if they should call an ambulance, and I said, “No way, she’s fine, let me drive her home and put her to bed.” Of course, we checked her vitals at her house, normal. I booked her into my office for a complete cardiac/neuro exam the following week (completely normal). About a month later, a spell of abdominal distress and nausea took her to the ER, where they documented a 15-second asystole. Ah, problem solved! With normal exam and echo and lab, she was given a diagnosis of degenerative disease of the conduction system and a pacemaker. She was quite happy with this, but her new husband wasn’t satisfied. “She’s so easily distracted, she starts to do something and quits halfway through. And she couldn’t find her car in the parking lot the other day. . .”. She was working as a teacher, and her colleagues had noted changes in her behaviour. I was flummoxed. I did a full neuro exam and a CT head. A tumour the size of a large walnut was sitting in the left frontal lobe. It was removed, and she had another two years of functionality before it returned to take her life. Primary astrocytoma. Stan Goldie was 63. He came to me for diagnosis and treatment of his atrial fibrillation. Nothing too challenging. Then one day I flew back to Scotland, where I met a medical school classmate, David. He said he was into medical genetics and was working on the family history of a rare skin disorder, Ferguson-Smith disease or MSSE (multiple self-healing squamous epithelioma, chromosome 9q, failure of signalling-gene TGFBR1*). These are skin tumours that grow rapidly, outgrow their blood supply, die and fall off leaving a small scar. About 80 cases have been diagnosed. The cute thing about this disease—it runs in 12 family lines, one of which, the Goldies, has a pedigree traced back to James Goldie of Stevenson (Scotland), who was born 1786. I commented that I had one patient with odd facial scarring, named Goldie. “That must be Stan!” he replied gleefully, “I was wondering where in the world he ended up. Can you ask him to send me 20cc of his blood?” When I returned to B.C., I called Stan into the office and asked him about his facial markings. “How did you find out?” he said, in disbelief. Marianne was 57, divorced with one son. She was a retired maternity nurse who worked in the same hospital as I did. She was an active golfer, walker and bridge player. She remarried. At the wedding reception, her friends and I called her over to play a hand of bridge—of course, doctored to have all the aces and kings. I remember her in her wedding dress, revelling in the 2-club opener, making a slam with ease. Two years later, playing golf, she fell over. Her balance was gone, and within a year, many other neurologic functions. Jakob-Creutzfeldt's Disease took her life shortly after. How the hell do you get JCD? Of course, once you’ve come across a very rare presentation of a common disease, or a common presentation of a very rare disease, you start to look for them everywhere. Like when Janice came to the office with her mother. I had just collected a series of patients with acrocyanosis and written a short blurb about them for my colleagues. Janice was 14. Her mother said, “Janice has blue feet,” and true enough, she did. I was excited, particularly given her young age and the potential for a congenital abnormality. I did a full cardiorespiratory review, one the Royal College could be proud of. Family history. Drugs and substances of note. Extensive past medical history, even aspects of footwear and foot health. Then on to my examination. Boy, these were blue feet. The worst cyanosis I’ve seen. I took an alcohol swab, drew it across the dorsum of the foot, and off came blue dye. Good grief. Blue socks. Oh, well, it taught me something. Buy quality socks. For further reading on Ferguson-Smith disease (MSSE), click here.

Unusual cases

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