Originally Posted to the Sermo Community
By: A Psychiatrist on Sermo

I'm looking for stories about patients for whom you made the correct diagnosis when previous or current doctors missed it. Yes, I know, none of us is perfect either, but this is your chance to brag. No stories about catching malingerers or drug-seekers, please; it should be a genuine medical condition.

Extra points for any of the following:

+1 if diagnosis was missed by at least one specialist in that field of medicine or if diagnosis was missed by at least two other colleagues; +2 if missed by an expert in that field

+1 if patient has been told s/he is "crazy," "psychosomatic," or "histrionic"; +2 points if it's been written in the chart or in the referral letter

+1 if you tentatively diagnosed the condition based on the history and exam, without labs or other studies; +2 if you diagnosed it based on history alone or diagnosed it on the very first visit

Some of my favorite catches: On the first visit, hyperparathyroidism in a patient who'd been in psychoanalysis with a non-MD for 10 years for depression; and also on the first visit, multiple sclerosis with demyelinating brain lesions in a patient who had been diagnosed as psychotic with "unremarkable" labs and head CT, and had just completed a psychiatric day treatment program. (I admit that on the second patient I suspected a breast cancer recurrence with brain mets, but it was still the brain MRI with and w/o contrast that I sent her for which caught it, so I'm counting it.)

Response from a Critical Care Physician: "As a medical student in Detroit, I saw a patient for one of those 12 page H+P you do in medical school. He had a white patch on his arm, and I noted it didn't seem to have much feeling. The only condition I knew that fit was leprosy. Imagine the scoffing on rounds when I suggested it. One of 4 cases diagnosed in the country that year."

Response from a Pediatrician: "8 year old with cough/boogers. First time I have ever seen him, walked in the room and knew he just didn't look right. Very long limbs, skinny, thin thin bones, + wrist wrap test-- pretty clearly Marfan's. I mentioned this to mom and she said "He looks just like dad so it must be normal." I sent them to Genetics and told her to make sure dad goes too. Sure enough dx with Marfan's. Dad had an echo done shortly after and he was found to have a dissecting aortic aneurysm that required surgical correction. So me paying attention saved the dad!"

Response from a Family Medicine Physician: “One of my students and I diagnosed a case of Huntington's in a 23-year-old woman who we followed through her pregnancy and delivery. It became obvious after delivery, and I gotta give the student credit for spotting it first. The neurologist we sent her to said she was depressed and needed a psychiatrist. The psychiatrist said her strange movements were responses to her inner voices and she needed to go on a vacation. We sent her to a world-renowned movement disorders specialist and he took one look at her from across the room and said "This is obviously Huntington's. Why did you bring her to me?" No prior family history. Just that her mother died in a mental institution of unknown causes and one of her mother's parents (the one with the gene, presumably) died young in an accident.”

Response from a Psychiatrist: "As a medical student on GYN, I was examining a new patient who had already been examined by the resident and attending. One of her breasts had peau d'orange. The exams by the resident and attending said normal....she had a mastectomy a few days later."

Response from a General Surgeon: “Diagnosed a pt with nausea for three years without a source. Had multiple abdominal procedures including a lap chole, EGDs , CT scans galore. Real diagnosis? Benign positional vertigo. Noticed she was dizzy with nystagmus in her room. I asked if the dizziness caused the nausea or came after. She said she was always dizzy, made her nauseous. Looked it up, started meclizine, all better. Go figure."

Response from an Emergency Medicine Physician: "I have had several cases where I elicited strong family histories of multiple DVT/PEs....ended up getting whole families tested and diagnosed with a familial thrombotic disorder....especially proud of this because based on one patient visit - it potentially cascaded into dozens of lives saved....now and in the future."

Response from a Neurologist: “A patient who was diagnosed with ALS by two different doctors due to progressive spasticity and "abnormal EMG's." On exam, she had a spastic paraplegia but had severe sensory loss particularly in vibration and proprioception and had classic steppage gait. I suspected B12 deficiency which was confirmed by labs and her spine MRI showed classic posterior column involvement."

Response from a Family Medicine Physician: "I have "caught" three adult patients with major cardiac defects requiring surgical treatment. These are people who were misdiagnosed as "asthma" or had been told they "have a murmur" but apparently nobody thought to check and ECHO in the 20-30 years of having the murmur. I also think some of these were missed because the patient underplayed it as in "I've always had a murmur since childhood" and everyone in between figured someone else had checked it. One of them had frank heart failure at the age of 26."

Response from an Emergency Medicine Physician: " 300#, 6'5" female, actually had known osteogenesis imperfecta (blue sclera and all). History of LBP, becoming frequent flyer. PE reveals a "full" abdomen - CT confirms 7 LITER ovarian cyst!"

Response from an Emergency Medicine Physician: "Just diagnosed malaria this week. Only second time in my career. Had been seen in another ER 24 hours before. Diagnosed as a viral syndrome. We just don't see a lot of malaria in rural Pa.”

Response from a Neurologist: "Diagnosed a retired doc with viral meningitis not too long ago - he'd been hospitalized for a week with "DT's", (first ever DT's in an nearly 90 year old retired doc who was a 2 martini a day man. Come on now!) I insisted on the LP, and glad I did.”

Response from a Gastroenterologist: "Addiction to kimchi in an older Korean woman with a long history of abdominal pain, gas, extensive negative gi work up. Just weaned her off the kimchi and she is now forever grateful.”

Response from an Internal Medicine Physician: "Myasthenia Gravis...in a 22 year old female who complained that her "eyes always got tired when driving home from work each evening." Initially diagnosed as "allergies" and "chronic fatigue" by others. There was just something in her story and how she said that she wasn't particularly "tired" per say, but that her eyelids felt droopy. Subsequent testing proved the diagnosis and she underwent successful thymectomy.

So the old saying proved true in this case..."When in doubt, LISTEN TO YOUR PATIENTS...They're telling you the diagnosis!”

Response from a Psychiatrist: "As resident, diagnosed diaphragmatic hernia with bowels in chest cavity by auscultation in 46 yo male admitted for depression because of chronic pain complaints that were "delusional in nature". Confirmed by chest xray, transferred to surgery and lived happily ever after.”

Response from a Family Medicine Physician: "An early 20's Hispanic male that had been bounced by ER's with headaches as a drug seeker for 2 years came to my office where I noticed slightly asymmetric pupils, an MRI confirmed he was about to herniate his brain from an intracranial parasitic infestation."